This document discusses congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. It describes the key enzymes involved in cortisol and aldosterone synthesis, the genetics and clinical presentations of classic and nonclassic forms of the condition, diagnostic testing including elevated 17-hydroxyprogesterone levels, and treatment approaches using glucocorticoids like dexamethasone. The classic salt-losing form is most severe and presents in infancy while the nonclassic late-onset form involves androgen excess in adolescent/adult females and may be asymptomatic.
Congenital Adrenal Hyperplasia (CAH)
For 5th Year Medical Students and Endocrinology Modules and Master and MD Degree Internal Medicine and Endocrinology
By Dr Usama Ragab Youssif
References: Oxford Handbook of Endocrinology & Diabetes
Congenital adrenal hyperplasia (CAH) is a family of inherited disorders affecting the adrenal glands caused by a deficiency in enzymes involved in cortisol and aldosterone production. The most common type (over 90% of cases) is 21-hydroxylase deficiency, which is autosomal recessive and can cause ambiguous genitalia in females and other symptoms. Clinical manifestations include salt wasting, low blood sugar, and excessive male hormone production leading to virilization. Diagnosis involves blood tests to measure hormone levels before and after stimulation with ACTH. Treatment consists of glucocorticoid and mineralocorticoid hormone replacement, monitoring of hormone levels, and surgery to correct ambiguous genitalia.
This document provides information on congenital adrenal hyperplasia caused by various enzyme deficiencies in the cortisol biosynthesis pathway. It begins by introducing congenital adrenal hyperplasia as autosomal recessive disorders of cortisol biosynthesis. It then discusses the common causes of congenital adrenal hyperplasia, focusing on 21-hydroxylase deficiency as the most common cause, accounting for over 90% of cases. The document provides details on the etiology, epidemiology, clinical manifestations, diagnosis, and treatment of 21-hydroxylase deficiency. It also briefly summarizes information about other causes of congenital adrenal hyperplasia including 11β-hydroxylase deficiency and 3β-hydroxysteroid dehydrogenase deficiency.
Congenital Adr Hyperplasia (CAH) can appear at any age from birth to puberty where it can lead to ambiguous genitalia. It is due to absolute or relative deficiency of 17 Hydroxylase or 21 Hydroxylase enzyme.
This document summarizes congenital adrenal hyperplasia (CAH), which is caused by a deficiency in the 21-hydroxylase enzyme. This leads to a deficiency in cortisol and aldosterone, causing salt-wasting in infants. It also causes prenatal androgen excess in females, resulting in virilization of the external genitalia. Prenatally, this causes enlarged clitoris and fused labia in females. Postnatally, both sexes experience signs of androgen excess like accelerated growth and premature epiphyseal closure. The document outlines the various clinical features and complications of both the cortisol/aldosterone deficiency and androgen excess aspects of CAH.
This document summarizes several forms of congenital adrenal hyperplasia including:
- 21-hydroxylase deficiency, which can cause glucocorticoid and mineralocorticoid deficiency, ambiguous genitalia, and is treated with glucocorticoid and mineralocorticoid replacement along with surgical correction if needed.
- 11β-hydroxylase deficiency which causes similar symptoms and is treated similarly.
- Other rare forms are also summarized, along with their signs, laboratory findings and treatment approaches.
1) Congenital adrenal hyperplasia (CAH) is a group of disorders caused by deficiencies in cortisol biosynthesis. This leads to excess production of androgens, causing virilization in females and precocious puberty in males.
2) The most common type is 21-hydroxylase deficiency, which accounts for 95% of CAH cases. It can present as the severe salt-wasting form or the milder simple virilizing form.
3) Diagnosis is based on elevated 17-hydroxyprogesterone levels in the presence of clinical signs. Genetic testing can confirm the type of enzyme deficiency causing CAH.
Congenital adrenal hyperplasia (CAH) is caused by deficiencies in enzymes involved in cortisol production. This leads to increased ACTH and overproduction of adrenal androgens. The most common type (90% of cases) is due to 21-hydroxylase deficiency. In affected females, virilization of external genitalia occurs prenatally due to high androgen exposure. Treatment involves glucocorticoid and mineralocorticoid replacement to control symptoms and prevent adrenal crisis. Long-term management may also include surgery to correct ambiguous genitalia in females.
Congenital Adrenal Hyperplasia (CAH)
For 5th Year Medical Students and Endocrinology Modules and Master and MD Degree Internal Medicine and Endocrinology
By Dr Usama Ragab Youssif
References: Oxford Handbook of Endocrinology & Diabetes
Congenital adrenal hyperplasia (CAH) is a family of inherited disorders affecting the adrenal glands caused by a deficiency in enzymes involved in cortisol and aldosterone production. The most common type (over 90% of cases) is 21-hydroxylase deficiency, which is autosomal recessive and can cause ambiguous genitalia in females and other symptoms. Clinical manifestations include salt wasting, low blood sugar, and excessive male hormone production leading to virilization. Diagnosis involves blood tests to measure hormone levels before and after stimulation with ACTH. Treatment consists of glucocorticoid and mineralocorticoid hormone replacement, monitoring of hormone levels, and surgery to correct ambiguous genitalia.
This document provides information on congenital adrenal hyperplasia caused by various enzyme deficiencies in the cortisol biosynthesis pathway. It begins by introducing congenital adrenal hyperplasia as autosomal recessive disorders of cortisol biosynthesis. It then discusses the common causes of congenital adrenal hyperplasia, focusing on 21-hydroxylase deficiency as the most common cause, accounting for over 90% of cases. The document provides details on the etiology, epidemiology, clinical manifestations, diagnosis, and treatment of 21-hydroxylase deficiency. It also briefly summarizes information about other causes of congenital adrenal hyperplasia including 11β-hydroxylase deficiency and 3β-hydroxysteroid dehydrogenase deficiency.
Congenital Adr Hyperplasia (CAH) can appear at any age from birth to puberty where it can lead to ambiguous genitalia. It is due to absolute or relative deficiency of 17 Hydroxylase or 21 Hydroxylase enzyme.
This document summarizes congenital adrenal hyperplasia (CAH), which is caused by a deficiency in the 21-hydroxylase enzyme. This leads to a deficiency in cortisol and aldosterone, causing salt-wasting in infants. It also causes prenatal androgen excess in females, resulting in virilization of the external genitalia. Prenatally, this causes enlarged clitoris and fused labia in females. Postnatally, both sexes experience signs of androgen excess like accelerated growth and premature epiphyseal closure. The document outlines the various clinical features and complications of both the cortisol/aldosterone deficiency and androgen excess aspects of CAH.
This document summarizes several forms of congenital adrenal hyperplasia including:
- 21-hydroxylase deficiency, which can cause glucocorticoid and mineralocorticoid deficiency, ambiguous genitalia, and is treated with glucocorticoid and mineralocorticoid replacement along with surgical correction if needed.
- 11β-hydroxylase deficiency which causes similar symptoms and is treated similarly.
- Other rare forms are also summarized, along with their signs, laboratory findings and treatment approaches.
1) Congenital adrenal hyperplasia (CAH) is a group of disorders caused by deficiencies in cortisol biosynthesis. This leads to excess production of androgens, causing virilization in females and precocious puberty in males.
2) The most common type is 21-hydroxylase deficiency, which accounts for 95% of CAH cases. It can present as the severe salt-wasting form or the milder simple virilizing form.
3) Diagnosis is based on elevated 17-hydroxyprogesterone levels in the presence of clinical signs. Genetic testing can confirm the type of enzyme deficiency causing CAH.
Congenital adrenal hyperplasia (CAH) is caused by deficiencies in enzymes involved in cortisol production. This leads to increased ACTH and overproduction of adrenal androgens. The most common type (90% of cases) is due to 21-hydroxylase deficiency. In affected females, virilization of external genitalia occurs prenatally due to high androgen exposure. Treatment involves glucocorticoid and mineralocorticoid replacement to control symptoms and prevent adrenal crisis. Long-term management may also include surgery to correct ambiguous genitalia in females.
This study analyzed mutations in the CYP21A2 gene in Pakistani patients with congenital adrenal hyperplasia (CAH). CAH is caused by defects in enzymes involved in cortisol synthesis and results in virilization in females and salt-wasting in both sexes. The study identified CYP21A2 mutations in Pakistani CAH patients and correlated genotypes to phenotypes. Major findings included several common mutations that matched clinical severity and helped explain the diversity of CAH presentations. Relating genetic mutations to clinical features could improve prenatal diagnosis and management of CAH in Pakistan.
Fanconi anemia is a rare genetic disorder that affects DNA repair and increases cancer risk. It is caused by mutations in one of several genes involved in the FA DNA repair pathway. Symptoms include bone marrow failure, physical abnormalities, and blood cancers. While there is no cure, treatment focuses on managing symptoms and complications through blood transfusions, antibiotics, bone marrow transplants, and cancer therapies.
Congenital adrenal hyperplasia (CAH) is caused by deficiencies in enzymes involved in cortisol production, leading to increased corticotropin levels and adrenal hyperplasia. The most common type (90% of cases) is due to 21-hydroxylase deficiency, causing cortisol and aldosterone deficiency or excess androgen levels. In females this causes virilization of external genitalia. Treatment involves glucocorticoid and mineralocorticoid replacement and surgery to correct ambiguous genitalia in females. Less common types involve 11β-hydroxylase and 17α-hydroxylase deficiencies, also resulting in hypertension and androgen excess.
Hypogonadotrophic Hypogonadism
its congenital disease, failure of communication between the hypothalamus and the anterior pituitary gland.
symptom of an altered sense of smell either completely absent (anosmia) or highly reduced (hyposmia).
for diagnosis wait and see" approach applied
This document discusses the diagnosis of growth hormone deficiency (GHD). It begins by outlining the objectives which are an introduction to short stature, indications for GHD investigations, GH testing methods including physiological and pharmacological tests, and international criteria for GHD diagnosis. It then provides details on the GH gene and physiological GH secretion patterns controlled by GHRH and somatostatin. The functions of GH and IGF/IGFBP systems are described. Various GH stimulation tests including pharmacological tests using insulin, L-dopa, arginine and GHRH are outlined. International criteria for GHD diagnosis incorporate auxological parameters, biochemical markers, and subnormal responses to provocative tests.
Dynamic endocrine tests involve stimulating or suppressing hormonal axes to assess endocrine function. Dr. Sahana discusses several key dynamic tests, including:
1. The Insulin Tolerance Test which triggers GH and ACTH release to assess pituitary function.
2. The Synacthen Test which uses ACTH to assess adrenal response and diagnose adrenal insufficiency.
3. Growth Hormone stimulation tests like the Insulin Tolerance Test which provoke GH release to diagnose growth hormone deficiency.
4. The Water Deprivation Test which restricts fluid intake to raise osmolality and assess ADH response, diagnosing diabetes insipidus.
Turner syndrome is a genetic condition characterized by complete or partial monosomy of the X chromosome, affecting about 1 in 2,500-5,000 females. Clinical features include short stature, neck webbing, protruding ears, and gonadal dysgenesis leading to infertility. It is diagnosed through karyotyping and fetal ultrasound may suggest it. Treatment involves growth hormone therapy, estrogen replacement, and managing associated conditions such as hypothyroidism, diabetes, and heart problems. Prognosis is generally good with treatment, though individuals are often shorter and infertile.
This document provides information on chronic myelogenous leukemia (CML), including its definition, history, epidemiology, etiology, pathogenesis, clinical features, diagnosis, disease course, treatment, and more. Some key points:
- CML is a stem cell disease characterized by increased white blood cells, anemia, splenomegaly, and the Philadelphia chromosome.
- It has three phases: chronic, accelerated, and blast crisis. Treatment depends on the phase and may include tyrosine kinase inhibitors like imatinib, interferon, chemotherapy, and stem cell transplantation.
- The disease is caused by the BCR-ABL fusion gene which results in uncontrolled tyrosine kinase activity and increased proliferation of
The document discusses ambiguous genitalia, which occurs when the external genitalia do not have a typical male or female appearance. It describes the normal process of sexual differentiation and various disorders of sexual development that can cause ambiguous genitalia, including congenital adrenal hyperplasia, androgen insensitivity, and true hermaphroditism. Evaluation of ambiguous genitalia involves assessing the medical history, physical exam, and laboratory tests to determine the underlying condition.
07-08-2013
Faculty of medicine of Syrian Private University.
Please LIKE my page! http://facebook.com/NawrasAlHalabi
متلازمة كلاينفلتر وتقانات أطفال الأنابيب
.كلية الطب البشري في الجامعة السورية الخاصة
This document provides information on delayed puberty, including its definition, causes, evaluation, and treatment. Delayed puberty can be functional, due to hypogonadotropic hypogonadism, or hypergonadotropic hypogonadism. The most common cause is constitutional delay of growth and puberty. Evaluation involves medical history, physical exam, lab tests like LH, FSH and bone age. Treatment depends on the underlying cause, but aims to induce normal pubertal development and growth. For constitutional delay, watchful waiting is often recommended, while permanent hypogonadism requires hormone therapy like testosterone to initiate puberty.
This document provides an overview of myelodysplastic syndrome (MDS). It discusses the history and changing definitions of MDS, current WHO classification, clinical features, pathogenesis involving genetic and epigenetic abnormalities, dysplastic changes seen in the bone marrow, and identification of blast cells. MDS is a heterogenous stem cell disorder characterized by cytopenias, dysplasia, and increased risk of acute myeloid leukemia. The disease results from acquired mutations in hematopoietic stem/progenitor cells and involves dysregulated apoptosis, ineffective hematopoiesis, and genetic and epigenetic changes.
Edward's Syndrome, also known as Trisomy 18, is a rare genetic disorder caused by the presence of an extra chromosome 18. It occurs in about 1 in 3,000 live births. Babies with Edward's Syndrome often have significant developmental delays and physical abnormalities. They frequently experience problems with their heart, brain, and other internal organs. Most infants with Edward's Syndrome do not survive past their first year due to issues with feeding and underlying health complications. While treatment aims to address any feeding difficulties or other medical needs, there is no cure for the condition.
The document discusses delayed puberty, defined as the absence or incomplete development of secondary sex characteristics past a certain age. It then focuses on hypogonadotrophic hypogonadism, which affects about 1 in 10,000 male births and can be associated with loss of smell. Sixteen gene defects have been linked to Kallmann syndrome. Short term goals of treatment include attaining appropriate sexual development and growth, while long term goals include maintaining normal hormone levels and inducing fertility. Pretreatment with FSH before GnRH therapy has shown promise in inducing testicular growth and fertility in men with congenital hypogonadotropic hypogonadism and underdeveloped testes.
THIS PRESENTATION IS FOCUSSES ON CONGENITAL HYPERPLASIA, ITS DEFINITION, EPIDEMIOLOGY, ITS TYPES, PATHOGENESIS DIAGNOSIS AND MANAGEMENT OPTIONS IT DESCRIBES HOW CAH AFFECTS ON BODY, AND HOW BODY RESPONSES TO THIS CONDITION THIS IS THE CONDITION IN WHICH ADRENOMEGALY IS SEEN
1) Androgen Insensitivity Syndrome is a genetic condition where people have male chromosomes and male gonads but experience partial or complete feminization due to a mutation in the Androgen Receptor gene.
2) There are three main types - complete androgen insensitivity (CAIS) where external genitalia are fully female, partial androgen insensitivity (PAIS) where genitalia range from fully female to ambiguous, and mild androgen insensitivity (MAIS) with impaired sperm development.
3) Treatment involves hormone replacement therapy, psychological support, and potentially surgery to address medical issues or gender identity. Orchidectomy is usually recommended to prevent cancer risks.
Micropenis, or a penis that is less than 2.5 standard deviations below the average length for age, can be caused by several genetic factors or conditions that decrease testosterone production and signaling. Evaluation is needed if a newborn male's penis is less than 2-2.5 cm to determine the underlying cause and begin treatment. Testosterone therapy through injections can help increase penis size in infants and children with micropenis, while phalloplasty surgery is also an option for enlargement in some cases.
Klinefelter syndrome is a genetic condition that results from two or more X chromosomes in males who normally have one X and one Y chromosome. It occurs in around 1 in 500-1000 live male births. Signs and symptoms vary by age but may include weaker muscles, slower development, less body hair, enlarged breasts, smaller testes, and infertility. Diagnosis is made through a karyotype blood test detecting the extra X chromosome. While there is no cure, testosterone treatment can help develop secondary sex characteristics and managing health issues.
CAH is caused by a deficiency in enzymes involved in cortisol or aldosterone synthesis. The most common type (90-95% of cases) is due to 21-hydroxylase deficiency which results in decreased cortisol and aldosterone. Symptoms vary in severity from virilization in females to salt-wasting crisis in infants. Treatment involves glucocorticoid and mineralocorticoid replacement tailored to the individual. Long-term monitoring is needed to ensure appropriate development and prevent health complications.
Addison's disease results from destruction of the adrenal glands, leading to a lack of cortisol and aldosterone production. It causes symptoms like fatigue, low blood pressure, and skin discoloration. Treatment involves replacing cortisol and mineralocorticoid hormones through medications like hydrocortisone and fludrocortisone. Acute adrenal insufficiency can occur during periods of stress and requires high doses of intravenous hydrocortisone.
This study analyzed mutations in the CYP21A2 gene in Pakistani patients with congenital adrenal hyperplasia (CAH). CAH is caused by defects in enzymes involved in cortisol synthesis and results in virilization in females and salt-wasting in both sexes. The study identified CYP21A2 mutations in Pakistani CAH patients and correlated genotypes to phenotypes. Major findings included several common mutations that matched clinical severity and helped explain the diversity of CAH presentations. Relating genetic mutations to clinical features could improve prenatal diagnosis and management of CAH in Pakistan.
Fanconi anemia is a rare genetic disorder that affects DNA repair and increases cancer risk. It is caused by mutations in one of several genes involved in the FA DNA repair pathway. Symptoms include bone marrow failure, physical abnormalities, and blood cancers. While there is no cure, treatment focuses on managing symptoms and complications through blood transfusions, antibiotics, bone marrow transplants, and cancer therapies.
Congenital adrenal hyperplasia (CAH) is caused by deficiencies in enzymes involved in cortisol production, leading to increased corticotropin levels and adrenal hyperplasia. The most common type (90% of cases) is due to 21-hydroxylase deficiency, causing cortisol and aldosterone deficiency or excess androgen levels. In females this causes virilization of external genitalia. Treatment involves glucocorticoid and mineralocorticoid replacement and surgery to correct ambiguous genitalia in females. Less common types involve 11β-hydroxylase and 17α-hydroxylase deficiencies, also resulting in hypertension and androgen excess.
Hypogonadotrophic Hypogonadism
its congenital disease, failure of communication between the hypothalamus and the anterior pituitary gland.
symptom of an altered sense of smell either completely absent (anosmia) or highly reduced (hyposmia).
for diagnosis wait and see" approach applied
This document discusses the diagnosis of growth hormone deficiency (GHD). It begins by outlining the objectives which are an introduction to short stature, indications for GHD investigations, GH testing methods including physiological and pharmacological tests, and international criteria for GHD diagnosis. It then provides details on the GH gene and physiological GH secretion patterns controlled by GHRH and somatostatin. The functions of GH and IGF/IGFBP systems are described. Various GH stimulation tests including pharmacological tests using insulin, L-dopa, arginine and GHRH are outlined. International criteria for GHD diagnosis incorporate auxological parameters, biochemical markers, and subnormal responses to provocative tests.
Dynamic endocrine tests involve stimulating or suppressing hormonal axes to assess endocrine function. Dr. Sahana discusses several key dynamic tests, including:
1. The Insulin Tolerance Test which triggers GH and ACTH release to assess pituitary function.
2. The Synacthen Test which uses ACTH to assess adrenal response and diagnose adrenal insufficiency.
3. Growth Hormone stimulation tests like the Insulin Tolerance Test which provoke GH release to diagnose growth hormone deficiency.
4. The Water Deprivation Test which restricts fluid intake to raise osmolality and assess ADH response, diagnosing diabetes insipidus.
Turner syndrome is a genetic condition characterized by complete or partial monosomy of the X chromosome, affecting about 1 in 2,500-5,000 females. Clinical features include short stature, neck webbing, protruding ears, and gonadal dysgenesis leading to infertility. It is diagnosed through karyotyping and fetal ultrasound may suggest it. Treatment involves growth hormone therapy, estrogen replacement, and managing associated conditions such as hypothyroidism, diabetes, and heart problems. Prognosis is generally good with treatment, though individuals are often shorter and infertile.
This document provides information on chronic myelogenous leukemia (CML), including its definition, history, epidemiology, etiology, pathogenesis, clinical features, diagnosis, disease course, treatment, and more. Some key points:
- CML is a stem cell disease characterized by increased white blood cells, anemia, splenomegaly, and the Philadelphia chromosome.
- It has three phases: chronic, accelerated, and blast crisis. Treatment depends on the phase and may include tyrosine kinase inhibitors like imatinib, interferon, chemotherapy, and stem cell transplantation.
- The disease is caused by the BCR-ABL fusion gene which results in uncontrolled tyrosine kinase activity and increased proliferation of
The document discusses ambiguous genitalia, which occurs when the external genitalia do not have a typical male or female appearance. It describes the normal process of sexual differentiation and various disorders of sexual development that can cause ambiguous genitalia, including congenital adrenal hyperplasia, androgen insensitivity, and true hermaphroditism. Evaluation of ambiguous genitalia involves assessing the medical history, physical exam, and laboratory tests to determine the underlying condition.
07-08-2013
Faculty of medicine of Syrian Private University.
Please LIKE my page! http://facebook.com/NawrasAlHalabi
متلازمة كلاينفلتر وتقانات أطفال الأنابيب
.كلية الطب البشري في الجامعة السورية الخاصة
This document provides information on delayed puberty, including its definition, causes, evaluation, and treatment. Delayed puberty can be functional, due to hypogonadotropic hypogonadism, or hypergonadotropic hypogonadism. The most common cause is constitutional delay of growth and puberty. Evaluation involves medical history, physical exam, lab tests like LH, FSH and bone age. Treatment depends on the underlying cause, but aims to induce normal pubertal development and growth. For constitutional delay, watchful waiting is often recommended, while permanent hypogonadism requires hormone therapy like testosterone to initiate puberty.
This document provides an overview of myelodysplastic syndrome (MDS). It discusses the history and changing definitions of MDS, current WHO classification, clinical features, pathogenesis involving genetic and epigenetic abnormalities, dysplastic changes seen in the bone marrow, and identification of blast cells. MDS is a heterogenous stem cell disorder characterized by cytopenias, dysplasia, and increased risk of acute myeloid leukemia. The disease results from acquired mutations in hematopoietic stem/progenitor cells and involves dysregulated apoptosis, ineffective hematopoiesis, and genetic and epigenetic changes.
Edward's Syndrome, also known as Trisomy 18, is a rare genetic disorder caused by the presence of an extra chromosome 18. It occurs in about 1 in 3,000 live births. Babies with Edward's Syndrome often have significant developmental delays and physical abnormalities. They frequently experience problems with their heart, brain, and other internal organs. Most infants with Edward's Syndrome do not survive past their first year due to issues with feeding and underlying health complications. While treatment aims to address any feeding difficulties or other medical needs, there is no cure for the condition.
The document discusses delayed puberty, defined as the absence or incomplete development of secondary sex characteristics past a certain age. It then focuses on hypogonadotrophic hypogonadism, which affects about 1 in 10,000 male births and can be associated with loss of smell. Sixteen gene defects have been linked to Kallmann syndrome. Short term goals of treatment include attaining appropriate sexual development and growth, while long term goals include maintaining normal hormone levels and inducing fertility. Pretreatment with FSH before GnRH therapy has shown promise in inducing testicular growth and fertility in men with congenital hypogonadotropic hypogonadism and underdeveloped testes.
THIS PRESENTATION IS FOCUSSES ON CONGENITAL HYPERPLASIA, ITS DEFINITION, EPIDEMIOLOGY, ITS TYPES, PATHOGENESIS DIAGNOSIS AND MANAGEMENT OPTIONS IT DESCRIBES HOW CAH AFFECTS ON BODY, AND HOW BODY RESPONSES TO THIS CONDITION THIS IS THE CONDITION IN WHICH ADRENOMEGALY IS SEEN
1) Androgen Insensitivity Syndrome is a genetic condition where people have male chromosomes and male gonads but experience partial or complete feminization due to a mutation in the Androgen Receptor gene.
2) There are three main types - complete androgen insensitivity (CAIS) where external genitalia are fully female, partial androgen insensitivity (PAIS) where genitalia range from fully female to ambiguous, and mild androgen insensitivity (MAIS) with impaired sperm development.
3) Treatment involves hormone replacement therapy, psychological support, and potentially surgery to address medical issues or gender identity. Orchidectomy is usually recommended to prevent cancer risks.
Micropenis, or a penis that is less than 2.5 standard deviations below the average length for age, can be caused by several genetic factors or conditions that decrease testosterone production and signaling. Evaluation is needed if a newborn male's penis is less than 2-2.5 cm to determine the underlying cause and begin treatment. Testosterone therapy through injections can help increase penis size in infants and children with micropenis, while phalloplasty surgery is also an option for enlargement in some cases.
Klinefelter syndrome is a genetic condition that results from two or more X chromosomes in males who normally have one X and one Y chromosome. It occurs in around 1 in 500-1000 live male births. Signs and symptoms vary by age but may include weaker muscles, slower development, less body hair, enlarged breasts, smaller testes, and infertility. Diagnosis is made through a karyotype blood test detecting the extra X chromosome. While there is no cure, testosterone treatment can help develop secondary sex characteristics and managing health issues.
CAH is caused by a deficiency in enzymes involved in cortisol or aldosterone synthesis. The most common type (90-95% of cases) is due to 21-hydroxylase deficiency which results in decreased cortisol and aldosterone. Symptoms vary in severity from virilization in females to salt-wasting crisis in infants. Treatment involves glucocorticoid and mineralocorticoid replacement tailored to the individual. Long-term monitoring is needed to ensure appropriate development and prevent health complications.
Addison's disease results from destruction of the adrenal glands, leading to a lack of cortisol and aldosterone production. It causes symptoms like fatigue, low blood pressure, and skin discoloration. Treatment involves replacing cortisol and mineralocorticoid hormones through medications like hydrocortisone and fludrocortisone. Acute adrenal insufficiency can occur during periods of stress and requires high doses of intravenous hydrocortisone.
Chronic kidney disease can lead to numerous endocrine disorders and dysfunctions. The kidneys play a key role in hormone production, metabolism, and excretion. CKD commonly results in abnormalities of erythropoietin, vitamin D, PTH, insulin, growth hormone, and sexual hormones. Precise testing and targeted treatment of the underlying endocrine disorders are needed to manage the complications of CKD.
A 19-year-old man presented with red urine, periorbital and pretibial edema. He was diagnosed with tonsillitis 3 weeks prior. Examination found hypertension and crackles in both lung bases. Urine analysis showed proteinuria and dysmorphic red blood cells. The most likely diagnosis is poststreptococcal glomerulonephritis resulting from the recent streptococcal infection. Treatment involves controlling hypertension, edema and complications through diuretics and sodium restriction. Renal biopsy showed diffuse proliferative glomerulonephritis with neutrophils and immune deposits consistent with poststreptococcal glomerulonephritis.
This document discusses the management of hyperosmolar hyperglycemic state (HHS), a metabolic emergency seen in uncontrolled type 2 diabetes. It defines HHS as severe hyperglycemia with plasma glucose over 33 mmol/L, altered mental status, and serum osmolarity over 320 mosm/L. Precipitating factors include newly diagnosed diabetes, consumption of sugary drinks, discontinuing medications, surgery, steroids or diuretics. Treatment involves rehydration, insulin to lower blood glucose, electrolyte replacement, and treating any underlying causes. Insulin doses are lower than in diabetic ketoacidosis but doubled if glucose does not fall adequately.
This document provides an overview of congenital adrenal hyperplasia (CAH). It discusses the different types of CAH, caused by deficiencies in enzymes involved in cortisol biosynthesis. The most common type is 21-hydroxylase deficiency, which can present as classic salt-wasting, simple virilizing, or non-classic forms. Signs and symptoms vary depending on the type and severity but may include ambiguous genitalia, precocious puberty, and hypertension. Treatment involves glucocorticoid and mineralocorticoid hormone replacement therapy. Prenatal screening and diagnosis aim to detect affected females and enable prenatal dexamethasone treatment to prevent virilization.
- The patient is a 9-year-old girl who was diagnosed with hypoparathyroidism at age 2 and Addison's disease at age 8. She presents symptoms of both conditions.
- She likely has polyglandular autoimmune syndrome type 1, a rare disorder caused by AIRE gene mutations where patients develop multiple autoimmune endocrine conditions, most commonly involving the parathyroid glands, adrenal glands, and gonads.
- Her conditions are treated with hydrocortisone and fludrocortisone replacement for adrenal insufficiency and calcium and calcitriol supplementation for hypoparathyroidism. Close monitoring of her treatment is needed to
This document provides an overview of pharmacotherapy for Parkinsonism. It discusses the clinical features and etiology of Parkinson's disease and outlines the mechanisms and uses of various drug classes for treatment, including levodopa, dopamine agonists, COMT inhibitors, MAO-B inhibitors, and other drugs. Side effects and considerations for each class are also reviewed. Non-motor symptoms can be treated with additional drugs like antidepressants, anxiolytics, and atypical antipsychotics as adjunctive therapy.
Introduce on anatomy and physiology of the adrenal gland.
Brief on etiologies and Classification of adrenal insufficiency.
Brief on clinical manifestations, diagnosis, and treatment of adrenal insufficiency.
Digoxin toxicity is caused by digoxin, a plant-derived cardiac glycoside used to treat heart conditions. It has a narrow therapeutic window, so toxicity can easily occur. Common signs of toxicity include arrhythmias such as heart block or tachycardia. Management involves discontinuing digoxin, treating arrhythmias, correcting electrolyte imbalances, and using digoxin antibody fragments for severe toxicity. Factors like renal impairment, hypokalemia, and drug interactions can precipitate or worsen digoxin toxicity.
Place of Mineralocorticoid replacement in CAH : ESICON2018: Mohan T Shenoy MD DMMohan Shenoy
Namasthe. These are my powerpoint slides at the just concluded ESICON 2018 in Bhubaneshwar. I thought of sharing my effort to my medical colleagues.
Topic: Place of Mineralocorticoid replacement in CAH
Alternate Link : https://uploadfiles.io/ba0cw
Valid till Jan 4, 2019
Hope you find it useful for clinical purpose.
Regards
Mohan Shenoy
This document discusses various endocrine causes of hypertension. Adrenal causes include pheochromocytoma, primary aldosteronism, congenital adrenal hyperplasia, apparent mineralocorticoid excess, and Cushing's syndrome. Thyroid disorders like hyperthyroidism and hypothyroidism can also cause hypertension. Other endocrine conditions that may increase blood pressure include primary hyperparathyroidism and acromegaly. The treatment for endocrine hypertension involves treating the underlying endocrine disorder through medications, surgery, or other therapies.
This patient was admitted with persistent hypoglycemia since birth. The mother's previous child died of sepsis at 1 month and her older child was diagnosed with PHHI and required near total pancreatectomy. This baby required positive pressure ventilation at birth and had low blood glucose levels that were difficult to manage. Genetic testing confirmed a diagnosis of PHHI, likely due to mutations in genes encoding the KATP channel. He was treated with glucagon, octreotide, and pancreatectomy, and has since achieved normal blood glucose control. PHHI is a genetic disorder characterized by inappropriate insulin secretion causing hypoglycemia. Management involves glucose supplementation, medical therapies, and potentially pancreatectomy.
This document provides information about congenital adrenal hyperplasia (CAH), a genetic disorder where the adrenal glands do not produce essential hormones like cortisol properly. It discusses the relevance, signs and symptoms, diagnosis, and treatment of CAH. CAH can range from mild to life-threatening and is treated through hormone replacement and supplements. Proper treatment is necessary for patients to live normal lives, though genetic counseling is recommended for family planning due to the hereditary nature of the condition.
The document discusses adrenocorticosteroids and their uses. It describes the adrenal glands and hormones they produce, including mineralocorticoids, glucocorticoids, and adrenal androgens. It outlines the therapeutic uses of adrenocorticosteroids in treating adrenal insufficiency, Cushing's syndrome, inflammatory disorders, and more. Side effects are noted if used long-term or withdrawn abruptly.
The document discusses adrenocorticosteroids and their uses. It describes the adrenal glands and hormones they produce, including mineralocorticoids, glucocorticoids, and adrenal androgens. It outlines the therapeutic uses of adrenocorticosteroids in treating adrenal insufficiency, Cushing's syndrome, inflammatory disorders, and more. Side effects are noted if used long-term or withdrawn abruptly.
The document discusses adrenocorticosteroids and their uses. It describes the adrenal glands and hormones they produce, including mineralocorticoids, glucocorticoids, and adrenal androgens. It outlines the therapeutic uses of adrenocorticosteroids in treating adrenal insufficiency, Cushing's syndrome, inflammatory disorders, and more. Side effects are also summarized.
The document discusses several topics:
1. Baxdrostat, a new drug to treat resistant hypertension by inhibiting aldosterone synthase. It was well tolerated in trials and significantly lowered blood pressure.
2. Finerenone, a mineralocorticoid receptor antagonist approved to reduce kidney disease progression in type 2 diabetes. It has fewer side effects like hyperkalemia than existing drugs.
3. Zavegepant, the first intranasal CGRP receptor antagonist approved for acute migraine treatment. It provided pain relief within 2 hours and was generally well tolerated in trials.
4. New guidelines for gastroparesis diagnosis and management, recommending pharmacologic treatment like metoclopramide
The child ingested 15 iron tablets containing a total of 975 mg of elemental iron, which is a potentially lethal dose. Diagnostic workup included an abdominal x-ray showing tablets in the stomach and intestine, and serum iron level. Whole bowel irrigation with polyethylene glycol was used for decontamination. The chelating agent desferoxamine was administered at 15 mg/kg/hr due to the large iron ingestion and presence of symptoms. Parameters like anion gap metabolic acidosis, leukocytosis, and hyperglycemia indicate severity. The prognosis depends on the ingested dose, time to treatment, and presence of complications.
The document discusses definitions of remission for rheumatoid arthritis (RA) and the goals of treating RA. It provides context on the history of RA treatment goals moving from symptom relief to preventing joint damage and achieving remission. The key points are:
1) Definitions of remission have evolved from the original ACR criteria to the 2011 ACR-EULAR definition, which includes boolean and index-based definitions for use in clinical trials.
2) Achieving early remission through aggressive treatment is associated with better long-term outcomes for RA patients.
3) The 2011 definition was developed for clinical trials but needs validation for use in practice to guide treatment and measure remission.
This document discusses the differential diagnosis and evaluation of various cardiac murmurs. It presents 6 clinical cases involving patients with different cardiac murmurs and conditions such as aortic stenosis, aortic regurgitation, mitral stenosis, mitral regurgitation, tricuspid regurgitation, and prosthetic valve dysfunction. For each case, it describes the history, physical exam findings, appropriate tests, diagnosis, complications, and management considerations for the underlying heart condition.
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Rasamanikya is a excellent preparation in the field of Rasashastra, it is used in various Kushtha Roga, Shwasa, Vicharchika, Bhagandara, Vatarakta, and Phiranga Roga. In this article Preparation& Comparative analytical profile for both Formulationon i.e Rasamanikya prepared by Kushmanda swarasa & Churnodhaka Shodita Haratala. The study aims to provide insights into the comparative efficacy and analytical aspects of these formulations for enhanced therapeutic outcomes.
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2. 17α: 17α-hydroxylase (P450c17); 17,20: 17,20 lyase which is part of the P450c17 enzyme; 3β: 3β-
hydroxysteroid dehydrogenase; 21: 21-hydroxylase (P450c21); 11β: 11β-hydroxylase; (P450c11); 18
refers to the two-step process of aldosterone synthase (P450c11as), resulting in the addition of an
hydroxyl group that is then oxidized to an aldehyde group at the 18-carbon position; ?: unclear if
pathway functions in vivo; DHEA: dehydroepiandrostenedione; 17KSR: 17-ketosteroid reductase;
and A: aromatase.
3.
4. INTRODUCTION
•Defective conversion of 17-hydroxyprogesterone to 11-
deoxycortisol accounts for more than 90 percent of cases of
congenital adrenal hyperplasia
•this conversion is mediated by 21-hydroxylase, the enzyme
encoded by the CYP21A2 gene.
5. •Patients with "classic" or the most severe form of congenital
adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency
present during the neonatal period and early infancy with
adrenal insufficiency with or without salt losing, or as toddlers
with virilization. Females have genital ambiguity.
•"Nonclassic," or late-onset 21-hydroxylase deficiency, presents
later in life with signs of androgen excess, and without
neonatal genital ambiguity. Clinical features in childhood may
include premature pubarche, and accelerated bone age;
adolescent and adult females may present with hirsutism,
menstrual irregularity, infertility, and acne. Some patients with
nonclassic CAH remain asymptomatic.
6. GENETICS
•The salt-losing form of the disorder is most often associated with large
deletions or intron 2 mutations that affect splicing and result in no
enzyme activity.
Patients with simple virilizing form have low but detectable enzyme
activity (ie, 1 to 2 percent) that supports sufficient aldosterone and
glucocorticoid production.
Women with the nonclassic form may be either compound heterozygotes
(with a classic mutation and a variant allele) or heterozygotes with
two variant alleles, allowing for 20 to 60 percent of normal enzymatic
activity
Patients who are compound heterozygotes for two different CYP21A2
mutations usually have the phenotype associated with the less severe
of the two genetic defects . Heterozygotes may have mild biochemical
abnormalities, but no clinically important endocrine disorder...
7.
8. CLINICAL PRESENTATION
•The clinical spectrum of disease ranges from the most severe to
mild forms, depending on the degree of 21-hydroxylase
deficiency.
•Three main clinical phenotypes have been described:
•classic salt-losing,
•classic non-salt-losing (simple-virilizing)
•and nonclassic (late-onset):
9. Females with the classic form (salt-losing and non-salt-losing) present
with genital ambiguity.
Males with the salt-losing form who are not identified by neonatal
screening present with failure to thrive, dehydration,
hyponatremia, and hyperkalemia typically at 7 to 14 days of life.
Males with the classic non-salt-losing form who are not identified
by neonatal screening typically present at two to four years of
age with early virilization (pubic hair, growth spurt, adult body
odor).
Nonclassic or late-onset 21-hydroxylase deficiency may present as
hirsutism and menstrual irregularity in young women, early
pubarche or sexual precocity in school age children, or there
may be no symptoms.
10.
11. DIAGNOSIS
Classic 21-hydroxylase deficiency results in one of two clinical
syndromes:
a salt-losing form or a non-salt-losing (simple virilizing) form. Girls
with either form present as neonates with ambiguous
genitalia.
Boys present as neonates with a salt-losing adrenal crisis
(hyponatremia, hyperkalemia, and failure to thrive) or as
toddlers with signs of puberty (non-salt-losing form)
12. Classic 21-hydroxylase deficiency — The characteristic biochemical
abnormality in patients with 21-hydroxylase deficiency is an
elevated serum concentration of 17-hydroxyprogesterone, the
normal substrate for 21-hydroxylase.
A very high serum concentration of 17-hydroxyprogesterone in a
randomly timed blood sample is diagnostic of classic 21-
hydroxylase.
Most affected neonates have concentrations greater than 3500
ng/dL (105 nmol/L)
13. The non-salt-losing (simple-virilizing) form of 21-hydroxylase
deficiency cannot be distinguished from the salt-losing form on
the basis of serum 17-hydroxyprogesterone values , However,
patients with the most complete enzyme deficiency typically
have the highest 17-hydroxyprogesterone levels.
To assess borderline cases, the standard high-dose (250 mcg
cosyntropin) test, not the low-dose (1 mcg) test, should be
used.
Genetic testing also can be used to evaluate borderline cases.
Genetic testing detects approximately 90 to 95 percent of
mutant alleles.
14. Patients with the salt-losing form of 21-hydroxylase deficiency have
low serum concentrations of aldosterone and 11-
deoxycorticosterone and increased plasma renin activity.
The mineralocorticoid deficiency can lead to volume depletion,
hyponatremia, and hyperkalemia.
Patients are also at risk for hypoglycemia during an adrenal crisis.
15. Nonclassic CYP21A2 deficiency —
The biochemical findings are less severe in patients with the late-
onset form of the disorder.
Basal serum 17-hydroxyprogesterone concentrations (during the
follicular phase of the menstrual cycle) may be only slightly high,
especially late in the day, but are always greater than 200 ng/dL
(6 nmol/L) in adult women and greater than 82 ng/dL (2.5
nmol/L) in children.
A morning value greater than 200 ng/dL (6 nmol/L) in the early
follicular phase or greater than 82 ng/dL in children strongly
suggests the diagnosis.
16. The diagnosis may be confirmed by a high dose (250 mcg) ACTH
stimulation test. The response to ACTH is exaggerated, and most
patients have values exceeding 1500 ng/dL (43 nmol/L) after
ACTH stimulation
Stimulated values of serum 17-hydroxyprogesterone
concentrations at 60 minutes range between 1000 ng/dL (30
nmol/L) and 10,000 ng/dl (300 nmol/L).
17. Other abnormalities that may be present include high serum
concentrations of 17-hydroxypregnenolone,
dehydroepiandrosterone (DHEA),
dehydroepiandrosterone sulfate (DHEA-S)
18.
19. treatment
Women
Hirsutism and acne in women — Antiandrogen therapy,
including cyproterone acetate may be superior to
glucocorticoids for the treatment of hirsutism.
Oral contraceptives, which suppress ovarian androgens, also
suppress ACTH and adrenal androgens . Given the potential
risks and side effects of glucocorticoids, and the fact that
hirsutism typically requires long-term therapy, oral
contraceptives and/or antiandrogens are reasonable
options for first-line therapy.
Oligomenorrhea – If fertility is not desired, we suggest oral
contraceptive agents rather than glucocorticoid therapy for
menstrual cycle management. Although glucocorticoids
may restore ovulation and regular cycles, they do not
provide contraception, and are associated with important
risks and side effects.
20. Anovulatory infertility – Dexamethasone is generally the initial
treatment for ovulation induction ; clomiphene citrate and other
assisted reproduction techniques may be added if glucocorticoid
therapy alone is ineffective
Treatment may be discontinued when an adult woman no longer
seeks fertility. Hyperandrogenic symptoms persist, and require
ongoing therapy, although not necessarily with glucocorticoids
21. Men — Treatment is not necessary for men unless there are
testicular masses (testicular adrenal rest tumors) or
oligospermia (in a man desiring fertility). The few studies
reporting treatment of testicular rest tumors or infertility in men
initially used dexamethasone (0.75 mg/day), a dose which was
often reduced later because of the development of Cushingoid
features
Surgical extirpation of the masses in eight men with classic CAH did
not normalize sperm count in one study
22. Choice of glucocorticoid — Dexamethasone, given as a bedtime
dose of 0.25 to 0.75 mg, is the preferred treatment for older
adolescents and adults after epiphyseal closure is complete. The
lowest dose that ameliorates the sign or symptom being treated
should be used.
Prednisone (5 to 7.5 mg) also may be given at bedtime
23. We consider bedtime dexamethasone administration to be optimal
because most ACTH secretion occurs between about 2:00 AM
and 10:00 AM. The duration of the biologic action of
dexamethasone taken at bedtime encompasses this period.
Additional doses of dexamethasone increase the risk of
osteoporosis and Cushing's syndrome.
In the United Kingdom, other regimens are popular, including daily
prednisolone (median dose 7 mg/day, range 4 to 10 mg/day),
and single or split dosing of hydrocortisone (median 30 mg/day,
range 15 to 40 mg/day)
24.
25. cases
21-year-old woman is referred by her general practitioner with
deteriorating hirsutism.
Since menarche at the age of 16 she has noted deteriorating facial
and truncal hirsutism. She had been taking the oral
contraceptive pill and had regular withdrawal bleeds up until
one year ago when she stopped the pill due to weight gain.
Since then she has had only one period, three months ago.
On examination her pulse was 82 beats per minute, blood
pressure 128/82 mmHg and she had a BMI of 30.4 kg/m2.
Investigations reveal:
27. This patient is obese, has oligomenorrhoea and hirsutism.
Her investigations show a normal oestradiol with increased
luteinising hormone (LH):follicle-stimulating hormone (FSH),
mild hyperprolactinaemia and mildly increased androgens -
typical of PCOS.
Mild hyperprolactinaemia is a typical feature of PCOS and this
picture of normal oestradiol secretion with
hyperandrogenism does not fit with a microprolactinoma.
An elevated 17 OHP would be expected in association with
congenital adrenal hyperplasia (CAH).
A testosterone secreting tumour of either ovarian or adrenal
origin would typically cause a testosterone concentration
above 7 nmol/L and would switch off LH/FSH with
consequent hypo-oestrogenism.
Markedly elevated oestrogen and prolactin would be expected
at 12 weeks gestation and testosterone would be expected
to be normal
28. 22-year-old female presents with a one year history of
secondary amenorrhoea and a five year history of facial
hirsutism.
Examination reveals normal female secondary sexual
characterisitcs with mild facial hair and hair extending up
to the umbilicus and tops of thighs.
Investigations reveal:
Oestradiol concentration 65 pmol/L(130-450)
LH 3.2 mU/L(3-10)
FSH 3.5 mU/L(3-10)
Prolactin 320 mU/L(<450)
Testosterone 3.4 pmol/L (<3)
29. From the following list, select the investigation that may
provide useful diagnostic information.
(Please select 1 option)
A-17 hydroxyprogesterone (17 OHP) concentration This is
the correct answer
B-Dehydroepiandrosterone sulphate (DHEAS) concentration
C-Karyotype
D-Sex hormone binding globulin (SHBG) concentration
E-Transvaginal ovarian ultrasound scan Incorrect answer
selected
30. This patient has hypogonadotrophic hypogonadism, a slightly raised
testosterone concentration and hirsutism.
Non-classical congenital adrenal hyperplasia may account for this picture
and a 17-OHP concentration above 33 nmol/L would be diagnostic.
Cushing's syndrome may also account for this picture and a urine free
cortisol could provide useful information.
This is not a polycystic ovary syndrome (PCOS)/primary ovarian problem
as the normal concentrations of luteinising hormone (LH) and follicle-
stimulating hormone (FSH) with low oestradiol reflect
hypogonadotrophic hypogonadism.
Normal oestradiol would be expected in PCOS.
A high oestradiol with high prolactin would be expected in pregnancy.
An ovarian testosterone secreting tumour would be expected to be
associated with far higher testosterone concentrations.
This patient was found to have non-classical congenital adrenal
hyperplasia (CAH).
CAH is most commonly due to a defect of 21 hydroxylase and may
present variably from birth with salt wasting syndrome and
ambiguous genitalia, through childhood with precocious puberty, to
adulthood with primary or secondary amenorrhoea and hirsutism.
31. A 21-year-old woman comes to the endocrine clinic for
review.
She has a history of hypertension which is managed with a
combination of ramipril and indapamide. Her past medical
history includes 11-beta hydroxylase deficiency diagnosed
shortly after birth when cliteromegaly was identified by the
midwives.
Which of the following is likely to be markedly raised?
(Please select 1 option)
11-Deoxycortisol This is the correct answer
Oestradiol
Oestrone
17-OH progesterone Incorrect answer selected
17-OH pregnenolone
32. 11 Beta-hydroxylase is responsible for conversion of 11-
deoxycorticosterone and 11-deoxycortisol to
corticosterone and cortisol. As this enzyme is not active in
patients with 11-beta hydroxylase deficiency, levels of
these steroids accumulate in patients suffering from the
disorder.
Whilst levels of 17-OH steroids are elevated in those with 11-
beta hydroxylase deficiency, the elevation seen is not as
great as that seen with 21-hydroxylase deficiency,
occasionally an incorrect diagnosis of 21-hydroxylase
deficiency may however be made.
Oestrogens are synthesised by aromatase conversion of
androgens, and as such levels are not markedly elevated.
33. 22-year-old woman presented with a five year history of hirsutism, having
noticed coarse dark hair under her chin. Being a teacher in a primary school,
these
symptoms are very distressing for her. She has tried local measures such as
shaving
and applying depilatory creams but without lasting success.
Her periods are irregular with oligomenorrhoea. She attained menarche at
the age of
14 years. She has not yet conceived and has had a coil fitted for
contraception. She
takes 5 mg diazepam at night.
On examination, she had a BMI of 24. She had coarse, dark hair over her chin,
lower
back and inner thighs. She does not have galactorrhoea to expression and
there
were no other clinical features to suggest Cushing's.
Investigations during the follicular phase:
Serum androstenedione 10.1 nmol/l (0.6-8.8)
Serum dehydroepiandrosterone sulphate 11.6 µmol/l (2-10)
Serum 17-hydroxyprogesterone 18.6 nmol/ (1-10)
Serum oestradiol 380 pmol/l (200-400)
Serum testosterone 2.6 nmol/l (0.5-3)
Plasma luteinising hormone 3.3 U/l (2.5-10)
Plasma follicle-stimulating hormone 3.6 U/l (2.5-10)
34. What is the next most appropriate investigation?
(Please select 1 option)
a-24 hour urinary free cortisol
b-CT scan of adrenals
c-GnRH test
d-Short Synacthen test with measurement of 17 hydroxy
progesterone(17OHP)
e-Ultrasound scan of ovaries
35. In this case the patient has features that would suggest polycystic
ovary
syndrome (PCOS) yet the 17OHP concentration is elevated and is
compatible
with non-classical congenital adrenal hyperplasia (CAH) yet just
below the
threshold of 33 nmol/l confidently to make the diagnosis.
Thus a short Synacthen test would be the most appropriate
investigation with
measurement of 17OHP.
A rise in 17OHP above 33 nmol/l suggests non-classical CAH
36. 23 year old female presents with worsening acne and a marked
increase in the development of body and facial hair which she
finds very distressing. She is also overweight and is markedly
stressed by her physical appearance and the development of
stretch marks over her abdomen. She has tried multiple hair
removal techniques with only mild success.
On examination she has a body mass index of 28 kg/m², coarse hair
over the anterior and posterior part of her chest and under
her chin. Her Blood Pressure is 135/90mmHg.
Her lab results are as follows:
9:00 am Cortisol 345 nmol/l (170 700 nmol/l)
LH 17 iU/l (1 20 iU/l)
Basal FSH 7.1 iU/l (1.0 8.8 iU/l)
DHEAS 545 µg/dl (31 228 µg/dl)
Prolactin 160 mU/l (<360 mU/l)
17 OH Progesterone 1025 ng/dl (<80 ng/dl)
Testosterone 3.9 nmol/l (0.9 3.1 nmol/l)
Ultrasound abdomen and pelvis reveals two cysts in the right
ovary.
37. •Which of the following is the most appropriate treatment
option for her condition?
•a-Combined oral contraceptive pill
b-Finasteride
c-Surgical resection of the ovarian cysts
d-Reverse circadian rhythm steroids
e-Metformin in combination with spironolactone
38. The diagnosis in this scenario is non-classical congenital adrenal hyperplasia
which manifests in adolescence/adulthood. It is caused by deficiency in the
enzyme 21 hydroxylase in the steroid biosynthetic pathway
The result is a shift in the production of steroid hormones towards the
androgenic pathwa
Since cortisol secretion is reduced, feedback leads to increased ACTH production
and resultant hyperplasia of the adrenals.
The level of the compounds that are formed prior to the action of 21
hydroxylase is increased, therefore levels of 17 hydroxyprogesterone are
elevated. Due to excessive androgen production, there is virilization and
hirsutism.
Treatment involves steroids given in reverse circadian rhythm, i.e. a higher
dosage at night and a lower dose in the morning.
When steroids are given in higher doses at night, ACTH is suppressed and the
normal physiological steroid peak in the morning is also
Cysts in the ovaries are a common finding on routine ultrasound and do not
necessarily represent polycystic ovarian syndrome.