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Congenital adrenal hyperplasia is a genetic disorder caused by a deficiency in enzymes needed to produce cortisol and aldosterone in the adrenal glands. There are two main types: classic CAH, which includes salt-wasting and non-salt wasting forms causing ambiguous genitalia in females; and non-classic CAH, which does not cause salt wasting or genital abnormalities. Symptoms vary between males and females and include early puberty, excessive hair growth, and ambiguous genitalia. The disease is treated through hormone replacement therapy and affects around 10,000-15,000 newborns annually.
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Congenital Adrenal Hyperplasia (CAH)
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
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)
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.
Congenital Adrenal Hyperplasia @ Dr. Shyam Kalavalapalli and Team of Best End...
Congenital Adrenal Hyperplasia @ Dr. Shyam Kalavalapalli and Team of Best End...IDEA CLINICS | Institute of Diabetes, Endocrinology and Adiposity in Hyderabad
A Confusing Case of Congenital Adrenal Hyperplasia @ Dr. Shyam Kalavalapalli, K Kaushal, FC Wu # Department of Endocrinology ^ Manchester Royal Infirmary * Best Endocrinologist in HyderabadCongenital adrenal hyperplasia
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.
Congenital adrenal hyperplasia
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 adrenal hyperplasia
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.
Congenital adrenal hyperplasia
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.
Recommended
Congenital Adrenal Hyperplasia (CAH)
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
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)
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.
Congenital Adrenal Hyperplasia @ Dr. Shyam Kalavalapalli and Team of Best End...
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A Confusing Case of Congenital Adrenal Hyperplasia @ Dr. Shyam Kalavalapalli, K Kaushal, FC Wu # Department of Endocrinology ^ Manchester Royal Infirmary * Best Endocrinologist in HyderabadCongenital adrenal hyperplasia
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.
Congenital adrenal hyperplasia
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 adrenal hyperplasia
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.
Congenital adrenal hyperplasia
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
This presentation I made for my peadiatric seminar with help of all the available sources .I hope this will be useful for you guys too.
Cushing syndrome and addison disease
The adrenal cortex produces three major classes of steroids:
glucocorticoids,
(2) mineralocorticoids, and
(3) adrenal androgens.
Consequently, normal adrenal function is important for
-modulating intermediary metabolism and immune responses through glucocorticoids;
blood pressure, vascular volume, and electrolytes through mineralocorticoids;
secondary sexual characteristics (in females) through androgens.
The adrenal axis plays an important role in the stress response by rapidly increasing cortisol levels.
Adrenal disorders include hyperfunction (Cushing's syndrome) and hypofunction (adrenal insufficiency) as well as a variety of genetic abnormalities of steroidogenesis.
Congenital adrenal hyperplasia, Ola Elgaddar, 2012
The document discusses the role of the laboratory in diagnosing congenital adrenal hyperplasia (CAH). [1] CAH is caused by deficiencies in adrenal corticosteroid biosynthesis pathways. [2] The most common type (90% of cases) is 21-hydroxylase deficiency, which can be diagnosed based on elevated levels of 17-hydroxyprogesterone and adrenal androgens. [3] Other types include 11β-hydroxylase deficiency and 17α-hydroxylase deficiency, which have distinct hormonal profiles that can indicate the specific deficiency.
Treatment 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.
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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.
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The document discusses several adrenal gland disorders including:
1. Addison's disease, which is caused by inadequate production of hormones by the adrenal glands due to problems with the pituitary gland or autoimmune destruction of the adrenal glands.
2. Cushing's syndrome, which is caused by excessive cortisol production from either benign or cancerous tumors of the adrenal glands or pituitary gland.
3. Pheochromocytoma, a rare tumor of the adrenal medulla that secretes excess catecholamines and causes symptoms like headaches and sweating.
4. Testing of the corticotropin-releasing factor is discussed as a way to diagnose hypothal
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This document discusses male gonadal function and dysfunction, including causes and treatment of hypogonadism. It covers primary hypogonadism conditions like Klinefelter syndrome and secondary causes such as tumors or drugs. Diagnosis involves measuring testosterone, LH and FSH levels. Treatment options for hypogonadism include testosterone replacement therapy via patches, gels or injections, with monitoring of side effects like prostate issues.
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Congenital Hypothyroidism
Congenital hypothyroidism is quite common in Indians and is the most common reversible congenital cause of mental retardation.
Early identification and intervention is important as Thyroid dependent brain development is complete by 3 years of age.
Universal screening is ideal as most cases are sporadic.
Positive cases on screening by filter paper test should be confirmed by serum levels estimation.
Serum Thyroid hormone levels are of primary importance in diagnosing and managing this condition, other investigations are ancillary.
Age based reference values must be followed in interpreting the results.
Timely monitoring (serum hormone levels, compliance, growth & development) and adequate counseling of care givers are key in managing this condition.
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anatomy and physiology of adrenal cortex . detail of artery and venous supply along with histological differences of adrenal cortex . detail of biosynthesis of adrenocorticosteroids. reaction of biosynthesis of cortisol , androgen and aldosterone in different region ie. zona fasciculata, zona reticularis and zona glomerulosa respectively. biochemical function of cortisol and aldosterone along with structures. congenital adrenal hyperplasia.
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This document provides an overview of approach to a child with ambiguous genitalia. It defines ambiguous genitalia and discusses incidence. It outlines signs that should prompt suspicion of a disorder of sex development. It then describes normal external genitalia in male and female children. Key terminology related to sex and gender is defined. The document discusses normal sexual development and etiologies of disorders of sex development including 46,XX DSD, 46,XY DSD, ovotesticular DSD, and sex chromosome DSD. Approaches to evaluation and specific conditions are summarized.
Medical management of congenital adrenal hyperplasia
This document discusses the medical management of congenital adrenal hyperplasia (CAH). It outlines the goals of treatment, which include replacing deficient hormones while minimizing excess and optimizing growth. For classical CAH, treatment involves glucocorticoid replacement to prevent adrenal crisis and mineralocorticoid replacement as needed. Monitoring patient responses is important to balance treatment and avoid under or overtreatment. The document also discusses management of non-classical CAH and challenges of severe cases.
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The document discusses disorders of sex development (DSDs), formerly known as intersex conditions. It provides classifications for different types of DSDs based on sex chromosomes and genital development. For evaluation, it recommends a team approach including history, physical exam, lab tests, imaging, and potential surgical correction. Management considers phenotype, fertility potential, and psychosexual factors. Feminizing genitoplasty and hypospadias surgery are discussed as well as long-term consultations that may be involved.
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This document provides information on adrenal gland disorders in children. It discusses the structure and functions of the adrenal glands and their roles in producing steroid hormones and catecholamines. Specific disorders covered include hypofunction disorders like Addison's disease, hyperfunction disorders like Cushing's disease, and adrenal enzyme deficiencies. Primary and secondary adrenal insufficiency are examined in more detail, outlining various etiologies. Congenital adrenal hyperplasia and its types are described. Signs, causes, and treatments of disorders like Addison's disease are summarized.
Reproductive endocrinology
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congenital adrenal hyperplasia
This presentation I made for my peadiatric seminar with help of all the available sources .I hope this will be useful for you guys too.
Cushing syndrome and addison disease
The adrenal cortex produces three major classes of steroids:
glucocorticoids,
(2) mineralocorticoids, and
(3) adrenal androgens.
Consequently, normal adrenal function is important for
-modulating intermediary metabolism and immune responses through glucocorticoids;
blood pressure, vascular volume, and electrolytes through mineralocorticoids;
secondary sexual characteristics (in females) through androgens.
The adrenal axis plays an important role in the stress response by rapidly increasing cortisol levels.
Adrenal disorders include hyperfunction (Cushing's syndrome) and hypofunction (adrenal insufficiency) as well as a variety of genetic abnormalities of steroidogenesis.
Congenital adrenal hyperplasia, Ola Elgaddar, 2012
The document discusses the role of the laboratory in diagnosing congenital adrenal hyperplasia (CAH). [1] CAH is caused by deficiencies in adrenal corticosteroid biosynthesis pathways. [2] The most common type (90% of cases) is 21-hydroxylase deficiency, which can be diagnosed based on elevated levels of 17-hydroxyprogesterone and adrenal androgens. [3] Other types include 11β-hydroxylase deficiency and 17α-hydroxylase deficiency, which have distinct hormonal profiles that can indicate the specific deficiency.
Treatment 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.
Hypogonadotropic Hypogonadism
Hypogonadism is characterized by impaired testicular function and can affect sperm production and testosterone synthesis. It has three main categories: primary hypogonadism due to testicular failure, secondary (hypogonadotropic) hypogonadism caused by insufficient gonadotropin secretion, and androgen insensitivity. Hypogonadotropic hypogonadism is rare and can be congenital or acquired. Kallmann syndrome results from GnRH deficiency due to failed embryonic migration and causes anosmia and azoospermia. Prader-Willi syndrome is caused by chromosome abnormalities and results in obesity, short stature, and cryptorchidism. Treatment of hypogonadotropic hyp
Cah
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.
Approach to short stature
This document discusses the approach to evaluating and managing short stature in children. It begins with definitions of short stature and causes of growth failure. Evaluation involves assessing height, growth velocity, dysmorphic features, and family history. Common causes discussed include genetic syndromes, endocrine disorders like growth hormone deficiency, and systemic/environmental factors. Growth hormone deficiency is evaluated in depth, including types, testing, and treatment indications and management. The literature review finds growth hormone deficiency and idiopathic short stature are common in Saudi Arabia and discusses findings on treatment outcomes and safety.
Testicular feminization syndrome
This document discusses testicular feminization syndrome (TFS), also known as androgen insensitivity syndrome (AIS). TFS is caused by mutations in the androgen receptor gene that result in partial or complete inability of cells to respond to androgens. This leads to undervirilization or feminization of genetic males. The document classifies AIS into three classes based on severity of symptoms: complete AIS, partial AIS, and mild AIS. It provides details on genital embryology, expected phenotypes for each class, differential diagnoses, and epidemiology estimates.
Adrenal gland disorders
The document discusses several adrenal gland disorders including:
1. Addison's disease, which is caused by inadequate production of hormones by the adrenal glands due to problems with the pituitary gland or autoimmune destruction of the adrenal glands.
2. Cushing's syndrome, which is caused by excessive cortisol production from either benign or cancerous tumors of the adrenal glands or pituitary gland.
3. Pheochromocytoma, a rare tumor of the adrenal medulla that secretes excess catecholamines and causes symptoms like headaches and sweating.
4. Testing of the corticotropin-releasing factor is discussed as a way to diagnose hypothal
Gonadal function and dysfunction
This document discusses male gonadal function and dysfunction, including causes and treatment of hypogonadism. It covers primary hypogonadism conditions like Klinefelter syndrome and secondary causes such as tumors or drugs. Diagnosis involves measuring testosterone, LH and FSH levels. Treatment options for hypogonadism include testosterone replacement therapy via patches, gels or injections, with monitoring of side effects like prostate issues.
Diseases of Gonads
The document discusses diseases of the gonads. It begins with a plan to cover topics such as normal sexual differentiation of the gonads, anatomy and physiology of male and female gonads, sexual development in boys and girls, and congenital violations of sexual differentiation. Specific conditions discussed include male hypogonadism, Klinefelter's syndrome, Turner syndrome, hermaphroditism, cryptorchidism, and anorchism. Causes of primary hypogonadism are also reviewed.
Congenital Hypothyroidism
Congenital hypothyroidism is quite common in Indians and is the most common reversible congenital cause of mental retardation.
Early identification and intervention is important as Thyroid dependent brain development is complete by 3 years of age.
Universal screening is ideal as most cases are sporadic.
Positive cases on screening by filter paper test should be confirmed by serum levels estimation.
Serum Thyroid hormone levels are of primary importance in diagnosing and managing this condition, other investigations are ancillary.
Age based reference values must be followed in interpreting the results.
Timely monitoring (serum hormone levels, compliance, growth & development) and adequate counseling of care givers are key in managing this condition.
Adrenal cortex
anatomy and physiology of adrenal cortex . detail of artery and venous supply along with histological differences of adrenal cortex . detail of biosynthesis of adrenocorticosteroids. reaction of biosynthesis of cortisol , androgen and aldosterone in different region ie. zona fasciculata, zona reticularis and zona glomerulosa respectively. biochemical function of cortisol and aldosterone along with structures. congenital adrenal hyperplasia.
Approach to dsd siddarth mahajan
This document provides an overview of approach to a child with ambiguous genitalia. It defines ambiguous genitalia and discusses incidence. It outlines signs that should prompt suspicion of a disorder of sex development. It then describes normal external genitalia in male and female children. Key terminology related to sex and gender is defined. The document discusses normal sexual development and etiologies of disorders of sex development including 46,XX DSD, 46,XY DSD, ovotesticular DSD, and sex chromosome DSD. Approaches to evaluation and specific conditions are summarized.
Medical management of congenital adrenal hyperplasia
This document discusses the medical management of congenital adrenal hyperplasia (CAH). It outlines the goals of treatment, which include replacing deficient hormones while minimizing excess and optimizing growth. For classical CAH, treatment involves glucocorticoid replacement to prevent adrenal crisis and mineralocorticoid replacement as needed. Monitoring patient responses is important to balance treatment and avoid under or overtreatment. The document also discusses management of non-classical CAH and challenges of severe cases.
Parathyroid hormone
Parathyroid hormone (PTH), parathormone or parathyrin, is secreted by the chief cells of the parathyroid glands as a polypeptide containing 84 amino acids. It acts to increase the concentration of calcium (Ca2+) in the blood, whereas calcitonin (a hormone produced by the parafollicular cells (C cells) of the thyroid gland) acts to decrease calcium concentration. PTH acts to increase the concentration of calcium in the blood by acting upon the parathyroid hormone 1 receptor (high levels in bone and kidney) and the parathyroid hormone 2 receptor (high levels in the central nervous system, pancreas, testis, and placenta).PTH half-life is approximately 4 minutes. It has a molecular mass of 9.4 kDa.
Disorders Sex Development
The document discusses disorders of sex development (DSDs), formerly known as intersex conditions. It provides classifications for different types of DSDs based on sex chromosomes and genital development. For evaluation, it recommends a team approach including history, physical exam, lab tests, imaging, and potential surgical correction. Management considers phenotype, fertility potential, and psychosexual factors. Feminizing genitoplasty and hypospadias surgery are discussed as well as long-term consultations that may be involved.
Lysosomal storage disorders
Lysosomal storage disorders are a group of inherited metabolic diseases caused by deficiencies of lysosomal enzymes. This results in the accumulation of substrates in the lysosomes which causes cellular dysfunction. Some examples discussed include Gaucher disease, Tay-Sachs disease, Niemann-Pick disease, and Fabry disease. The document provides an overview of the causes and characteristics of these lysosomal storage disorders.
Delayed Puberty Topics in Adolescent Gynecology Delayed Puberty Topics in A...
This document discusses delayed puberty in adolescent girls. It begins by outlining normal pubertal development and defining delayed puberty. Delayed puberty is then classified into three categories: hypergonadotropic hypogonadism (43%), hypogonadotropic hypogonadism (31%), and eugonadism (26%). For evaluation and management, the document recommends obtaining a history, physical exam, initial labs (TSH, prolactin), and a progestational challenge to determine gonadotropin levels and identify underlying causes. Treatment strategies aim to correct the underlying pathology, prevent disease complications, and provide sex steroids.
Precocious and delayed puberty
This document discusses precocious and delayed puberty. It defines precocious puberty as the development of sexual characteristics before age 8 or menstruation before age 10. Causes can be idiopathic, an intracranial lesion, or disorders like McCune-Albright syndrome. Treatment aims to slow bone maturation and reduce gonadotropin secretion, using medications like GnRH agonists. Delayed puberty is defined as lack of breast or pubic hair development by ages 13-14 or menarche after 16. Causes include hypogonadism, chronic illness, or eugonadism. Treatment depends on the underlying cause and may involve cyclic or combined estrogen therapies.
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hypogonadism and diseases of hypogonadism and primary diseases of hypogonadism and secondary diseases of hypogonadism and diseases of gonads klinfelter syndrome and noonan syndrome and kallman syndrome
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P2 powerpoint
- 1. Congenital Adrenal Hyperplasia Renata O, Steyn F, Nathaly M, Aileen j
- 2. What the disease is Congenital adrenal hyperplasia is a defect in the adrenal glands when they lack enzyme. Two types of CAH 1. Classic also has two forms: salt wasting (severe) & non-salt wasting (mild). 2. Non-classic
- 3. Classic CAH 1. Salt wasting: body has trouble keeping the right amount of salt. Causes weight loss & dehydration in the first week of life for newborns. 2. Non-salt wasting: levels of cortisol are reduced, no salt wasting. Causes ambiguous genitalia in female babies and virilization in both sexes before puberty.
- 4. Non-classic CAH Neither cortisol nor aldosterone is reduced No salt wasting Newborn girls usually have no abiguity
- 5. The target Both males and females are an easy target This disease affects 10,000-15,000 newborns every year Severe form affects mainly European Caucasians Mild form affects Ashkenazi-Jews
- 6. Areas of infection Affect the adrenal glands mainly Also affects the reproductive system of both sexes
- 7. Causes Lack of enzyme needed by the adrenal gland to make the hormones cortisol and aldosterone. Cortisol: a steroid hormone of the adrenal cortex Aldosterone: hormone produced by the cortex of the adrenal gland
- 8. Female Symptoms Abnormal menstrual cycles Deep voice Early appearance of pubic & armpit hair Ambiguous genitalia (genitals that look both male and female) (picture maybe)
- 9. Male Symptoms Early appearance of pubic & armpit hair Enlarged penis Small testes Early development of male characteristics (e.g. deep voice, facial hair, etc.) (picture maybe)
- 10. Exams and Tests Salt levels and urine tests X-ray for bone age High levels of serum DHEA sulfate Dehydroepiandrosterone(DHEA)-sulfate- a weak male hormone produced in the adrenal glands in both males & females. Genetic test also help diagnose, confirm, & manage the disease.
- 11. Treatments Treated with hormone replacement; generally replaced with cortef and florinef. Take a form of cortisol daily (e.g. dexamethasone, fludrocortisone, or hydrocortisone)
- 12. Citation (idk if the way it’s cited is correct) The hormone foundation’s Patient Guide to Congenital Adrenal Hyperplasia. (n.d.). http://www.hormone.org/resources/up-adrenal- hyperplasia-patient-guide-083110-2.pdf Congenital Adrenal Hyperplasia-PubMed Health. National Center for biotechnology Information. http://ncbi.nlm.nih.gov/pubmed/health/ Congenital Adrenal Hyperplasia Medicine plus Medical Encyclopedia. National library of medicine-national institutes of health. http://nlm.nih.gov/medicineplus/encyla http://www.congenitaladrenalhyperplasia.org/