Congenital Adrenal Hyperplasia (CAH)
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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.
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Congenital Adrenal Hyperplasia (CAH)
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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, 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.
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
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 (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
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.
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.
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.
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, 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.
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
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 (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
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.
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.
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.
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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
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
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.
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.
Ambiguous genitalia
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.
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.
CONGENITAL ADRENAL HYPERPLASIA (CAH)- ADRENOMEHGALY
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
Adrenogenital syndrome
This document discusses adrenal cortex disorders in children, specifically focusing on congenital adrenal hyperplasia. It begins by describing the anatomy and function of the adrenal gland. It then explains that congenital adrenal hyperplasia is caused by a deficiency in enzymes involved in steroidogenesis, most commonly 21-hydroxylase. Classical congenital adrenal hyperplasia presents in infancy with ambiguous genitalia in females or salt-wasting crisis in both sexes. Non-classical congenital adrenal hyperplasia presents later in childhood with precocious puberty. Treatment involves lifelong steroid replacement therapy to manage symptoms and prevent complications.
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.
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This document discusses Alagille syndrome (ALGS), a multisystem genetic disorder caused by mutations in the JAG1 gene. It notes that ALGS affects the liver, heart, kidneys, skeletal system, and facial features. Methods for studying the JAG1 gene such as DNA extraction, DHPLC, RT-PCR, and sequencing are also summarized. Several figures show examples of mutations identified through these techniques, including a splicing mutation and exon deletion. The document reviews findings from other studies on the clinical effects of different JAG1 mutations.
familial glucocorticoid defceincy.pptx
- A 2.5 year old boy and 2.5 year old girl presented with hypoglycemia. Exams found both to be above the 97th percentile for height and hyperpigmented. Labs showed elevated ACTH and low cortisol. The girl's sister was diagnosed with FGD1.
- Familial Glucocorticoid Deficiency (FGD) is characterized by isolated glucocorticoid deficiency due to mutations impairing the ACTH receptor or other genes involved in the ACTH signaling pathway. Presentations include hypoglycemia, infections, and hyperpigmentation. Treatment is glucocorticoid replacement.
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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.
Ambiguous Genitalia
The clinical case presentation involves an early preterm infant with ambiguous genitalia including an underdeveloped scrotum and hypospadias. Examination of the elder sibling also revealed ambiguous genitalia. Initial investigations showed normal hormone levels. The differential diagnoses considered included congenital adrenal hyperplasia, androgen insensitivity syndrome, and 5-alpha reductase deficiency. Further evaluation of the elder sibling confirmed a diagnosis of 5-alpha reductase deficiency based on a poor response to hCG stimulation testing. The case highlights the approach to evaluating infants with disorders of sex development.
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This document discusses disorders of sex development (DSD), formerly known as intersex conditions. It defines DSD and outlines its various types including 46,XX virilized female, 46,XY undervirilized male, gonadal differentiation disorders, and sex chromosome DSD. It discusses the embryology, incidence, evaluation, and management of DSD. Evaluation involves history, examination, imaging, genetics, endocrinology, and sometimes surgery. Treatment aims to match gender assignment with chromosomal and gonadal sex when possible while preserving fertility and future function. A multidisciplinary team approach is important for management of DSD.
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- Bilirubin exists in two forms - a water-soluble dianion and insoluble bilirubin acid. The acid form can cross the blood brain barrier.
- Two transporters, MRPs and MDR/PGP, help prevent bilirubin entry into the brain from the blood under normal conditions.
- Kernicterus presents as acute bilirubin encephalopathy with symptoms ranging
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Disorders of Sex Development (DSD) can occur when sexual development does not follow the typical path from female or male. The presentation discusses DSD, including causes like genetic factors, hormone imbalances, and syndromes. Evaluation involves medical history, physical exam, imaging, labs, and biopsy to determine chromosomal, gonadal and genital characteristics. Management considers gender assignment, surgery, hormones, counseling, and the child's potential for future sexual/reproductive functions and quality of life. Religious and cultural perspectives must also be considered in treatment.
Disorders of sexual differentiation
The document discusses disorders of sexual differentiation (DSD). It begins by describing typical embryonic development of male and female genitalia. Common causes of DSD are then discussed, including congenital adrenal hyperplasia (CAH), which can cause virilization of 46,XX individuals. Other conditions mentioned are ovotesticular DSD, complete and partial androgen insensitivity syndrome, 5-alpha reductase deficiency, persistent Müllerian duct syndrome, mixed gonadal dysgenesis, and complete gonadal dysgenesis. The roles of various genes in sexual development are also summarized. Clinical features, investigations, and management considerations are provided for different DSD conditions.
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This document discusses the genetic causes and management of recurrent spontaneous abortion (RSA). It defines RSA as three or more pregnancy losses before 20 weeks. Around 50% of RSA cases are considered unexplained. Genetic factors, including balanced translocations, account for around 2-5% of cases. Karyotyping of abortus and parental testing can identify chromosomal abnormalities. For repeated aneuploid miscarriages, high dose folic acid supplementation and timed intercourse may help prevent further aneuploid conceptions. Preimplantation genetic diagnosis (PGD) and screening (PGS) using technologies like comparative genomic hybridization (CGH) and array CGH can identify and select euploid embryos for transfer in cases involving
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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
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
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.
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.
Ambiguous genitalia
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.
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.
CONGENITAL ADRENAL HYPERPLASIA (CAH)- ADRENOMEHGALY
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
Adrenogenital syndrome
This document discusses adrenal cortex disorders in children, specifically focusing on congenital adrenal hyperplasia. It begins by describing the anatomy and function of the adrenal gland. It then explains that congenital adrenal hyperplasia is caused by a deficiency in enzymes involved in steroidogenesis, most commonly 21-hydroxylase. Classical congenital adrenal hyperplasia presents in infancy with ambiguous genitalia in females or salt-wasting crisis in both sexes. Non-classical congenital adrenal hyperplasia presents later in childhood with precocious puberty. Treatment involves lifelong steroid replacement therapy to manage symptoms and prevent complications.
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.
Alagille syndrome
This document discusses Alagille syndrome (ALGS), a multisystem genetic disorder caused by mutations in the JAG1 gene. It notes that ALGS affects the liver, heart, kidneys, skeletal system, and facial features. Methods for studying the JAG1 gene such as DNA extraction, DHPLC, RT-PCR, and sequencing are also summarized. Several figures show examples of mutations identified through these techniques, including a splicing mutation and exon deletion. The document reviews findings from other studies on the clinical effects of different JAG1 mutations.
familial glucocorticoid defceincy.pptx
- A 2.5 year old boy and 2.5 year old girl presented with hypoglycemia. Exams found both to be above the 97th percentile for height and hyperpigmented. Labs showed elevated ACTH and low cortisol. The girl's sister was diagnosed with FGD1.
- Familial Glucocorticoid Deficiency (FGD) is characterized by isolated glucocorticoid deficiency due to mutations impairing the ACTH receptor or other genes involved in the ACTH signaling pathway. Presentations include hypoglycemia, infections, and hyperpigmentation. Treatment is glucocorticoid replacement.
Short stature
This document provides an overview of short stature and approaches to evaluating a child presenting with short stature. It defines different types of short stature including familial short stature, constitutional delay of growth and puberty, endocrine causes like growth hormone deficiency and hypothyroidism, disproportionate short stature due to conditions like achondroplasia, chromosomal disorders, emotional deprivation, nutritional causes, and chronic diseases. It also discusses evaluating growth parameters, genetic potential, bone age, causes of short stature, and the role and issues with growth hormone therapy.
P2 powerpoint
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.
Ambiguous Genitalia
The clinical case presentation involves an early preterm infant with ambiguous genitalia including an underdeveloped scrotum and hypospadias. Examination of the elder sibling also revealed ambiguous genitalia. Initial investigations showed normal hormone levels. The differential diagnoses considered included congenital adrenal hyperplasia, androgen insensitivity syndrome, and 5-alpha reductase deficiency. Further evaluation of the elder sibling confirmed a diagnosis of 5-alpha reductase deficiency based on a poor response to hCG stimulation testing. The case highlights the approach to evaluating infants with disorders of sex development.
Duchenne muscular dystrophy -Prenatal Diagnosis & Genetic Counseling- Dr.Padmesh
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1. Duchenne muscular dystrophy is an X-linked recessive genetic disorder that causes progressive muscle weakness in boys. It is characterized by muscle degeneration and affects 1 in 3,600 male births.
2. Genetic counseling for DMD involves 5 steps - reaching a diagnosis through family history, examinations, and tests; assessing recurrence risks; communicating the condition; discussing options; and providing long-term support.
3. Prenatal diagnosis methods like amniocentesis and ultrasound can determine if a male fetus is affected to allow couples to prepare or consider alternatives like abortion or adoption.Ambiguousgenitalia ppt
This document discusses disorders of sex development (DSD), formerly known as intersex conditions. It defines DSD and outlines its various types including 46,XX virilized female, 46,XY undervirilized male, gonadal differentiation disorders, and sex chromosome DSD. It discusses the embryology, incidence, evaluation, and management of DSD. Evaluation involves history, examination, imaging, genetics, endocrinology, and sometimes surgery. Treatment aims to match gender assignment with chromosomal and gonadal sex when possible while preserving fertility and future function. A multidisciplinary team approach is important for management of DSD.
Approach to a case of ambiguous genitalia
approach understanding & discription for ambiguous genitalia & what called desorder of sex development
Bind
This document summarizes the history and mechanisms of jaundice and kernicterus. Some key points include:
- Kernicterus was first described in 1875 and results from bilirubin accumulation in the brain due to hyperbilirubinemia.
- Bilirubin exists in two forms - a water-soluble dianion and insoluble bilirubin acid. The acid form can cross the blood brain barrier.
- Two transporters, MRPs and MDR/PGP, help prevent bilirubin entry into the brain from the blood under normal conditions.
- Kernicterus presents as acute bilirubin encephalopathy with symptoms ranging
Disorder of sex development
Disorders of Sex Development (DSD) can occur when sexual development does not follow the typical path from female or male. The presentation discusses DSD, including causes like genetic factors, hormone imbalances, and syndromes. Evaluation involves medical history, physical exam, imaging, labs, and biopsy to determine chromosomal, gonadal and genital characteristics. Management considers gender assignment, surgery, hormones, counseling, and the child's potential for future sexual/reproductive functions and quality of life. Religious and cultural perspectives must also be considered in treatment.
Disorders of sexual differentiation
The document discusses disorders of sexual differentiation (DSD). It begins by describing typical embryonic development of male and female genitalia. Common causes of DSD are then discussed, including congenital adrenal hyperplasia (CAH), which can cause virilization of 46,XX individuals. Other conditions mentioned are ovotesticular DSD, complete and partial androgen insensitivity syndrome, 5-alpha reductase deficiency, persistent Müllerian duct syndrome, mixed gonadal dysgenesis, and complete gonadal dysgenesis. The roles of various genes in sexual development are also summarized. Clinical features, investigations, and management considerations are provided for different DSD conditions.
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This document discusses antenatal fetal surveillance, which involves assessing fetal well-being during pregnancy to ensure delivery of a healthy newborn. It outlines various indications for surveillance including maternal conditions like hypertension and diabetes, as well as fetal conditions like growth restriction. Methods of surveillance discussed include biochemical tests of maternal serum, ultrasound, MRI, amniocentesis, and clinical assessment of fetal growth through maternal weight gain and abdominal exams. The goal of surveillance is to monitor high-risk pregnancies and detect issues that could impact the fetus.
15. PRECOCIOUS PUBERTY in the adolescent
Precotius puberty cause and their investigation and treatment
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20150918 E. Pompilii - Microarray in diagnosi prenatale: la complessità della...
Eva Pompilii, MD
Genetic Counselor , TOMA Advanced Biomedical Assays, S.p.A.,
Gynepro Medical Bologna, Policlinico S.Orsola Malpighi Bologna
• OBJECTIVES:
At present, a precise guideline establishing chromosome microarray analysis (CMA) applications and platforms in the prenatal setting does not exist. The actual controversial
question is whether CMA technologies can or should shortly replace the standard karyotype in prenatal diagnosis practice
• CONCLUSIONS:
Presently CMA analysis can be considered a second-tier diagnostic test to be used after a standard karyotype in selected group of pregnancies, such as those with single
(apparently isolated) or multiple US fetal abnormalities, with de novo chromosomal rearrangements, even if apparently balanced, and those with supernumerary markers chromosomes
Prevention of lysosomal storage diseases and derivation of1
This study used preimplantation genetic diagnosis (PGD) to derive stem cell lines from embryos carrying mutations for four lysosomal storage disorders (LSDs): Tay-Sachs disease, Gaucher disease, Fabry disease, and Hunter syndrome. PGD was performed on 28 embryos from affected families, resulting in two human embryonic stem cell lines - one from a female Hunter syndrome embryo and one from a compound heterozygote embryo for Gaucher disease. The stem cell lines showed typical embryonic stem cell characteristics and normal karyotypes. This demonstrates the potential of PGD and stem cell derivation to establish disease models and prevent transmission of LSDs.
Prevention of lysosomal storage diseases and derivation of2
This study evaluated the use of preimplantation genetic diagnosis (PGD) to prevent the transmission of four lysosomal storage disorders (TSD, GD, FD, HS) in couples at risk. PGD was performed on 28 embryos from 8 couples, identifying 2 embryos with mutations for Hunter syndrome and GD. These embryos were used to derive 2 human embryonic stem cell lines expressing markers of an undifferentiated state. PGD accurately diagnosed mutations in embryos and allowed derivation of disease-specific stem cell lines, demonstrating the potential of PGD to avoid inherited diseases while generating disease models.
malefactor-INFERTILITY.pptx
This document summarizes male infertility, including its causes, evaluation, and treatment. It discusses how infertility can be caused by pretesticular, testicular, or post-testicular defects in 60-80% of cases. Evaluation involves a semen analysis, endocrine tests, and specialized tests as needed. Treatment depends on the underlying cause and may include lifestyle changes, medications, surgery, assisted reproduction techniques like IUI or ICSI, or empiric therapies in some cases. The goal is to address any identifiable medical issues and select the most effective treatment strategy based on the couple's diagnosis and fertility resources.
Angela Poster Draft.JB
Using next generation sequencing, researchers identified the genetic mutations causing Leber's congenital amaurosis (LCA) in a patient. They found the patient had two severe mutations in the RPGRIP1 gene, which is known to cause LCA. The mutations were inherited in an autosomal recessive pattern from the patient's mother and father, who each carried one mutated copy of the gene. Identifying the specific genetic cause of the patient's LCA provides insights that could help develop future therapies to treat this blindness-causing condition.
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Congenital Adrenal Hyperplasia (CAH)
- 1. ETHNIC DISPARITY IN 21-HYDROXYLASE GENE MUTATIONSIDENTIFIED IN PAKISTANI CONGENITAL ADRENALHYPERPLASIA PATIENTS Aysha H Khan1, Muniba Aban1, Jamal Raza2, Naeemul Haq3, Abdul Jabbar3, Tariq Moatter1 Manuela Amaya Cossio Manuela Zapata Arismendy. Molecular Biology III Semester
- 3. Characterizedbydefects in any of thefiveenzymesrequiredtosintheside cortisol, primarity of 21 hidroxylaseenzyme (21OH).
- 7. It´s located within the human leukocyte antigen class III region on the short arm of cromosome 6.
- 8. This has a highly homologous pseudo gene CYP21A1P.
- 11. MATERIALES Y METODOS POBLACIÓN DE ESTUDIO Diagnostico de hiperplasia suprarrenal congénita. Presentación Clínica Evaluación Bioquímica Investigación hormonal SW (Derrochador de sal) SV (Virilizacion simple) Nivel sodio Nivel de potasio 17 hidroxi - progesterona NC (No clásica)
- 13. Acné
- 15. ADN genómico extraído de los leucocitos, con promega.
- 16. ADN purificado fue proyectado por mutaciones en el gen CYP21A2 utilizando PCR- ARMS.MATERIALES Y METODOS
- 17. MATERIALES Y METODOS PCR: En esta técnica de laboratorio se tiene como objetivo la amplificación directa de un gen o de un fragmento de DNA, o indirecta de RNA. Esta se basa en la amplificación enzimática in vitro la cual es el incremento geométrico del numero de copias de una secuencia particular del DNA.
- 18. MATERIALES Y METODOS PCR – ARMS: (sistema refractario de una amplificación) Se utiliza dos cebadores idénticos en su secuencia excepto en su nucleótido 3'. Uno tiene el nucleótido 3' complementario al gen salvaje, mientras que el otro cebador 3' es complementario al gen mutado. La amplificación sólo ocurrirá con emparejamientos perfectos, con lo que dependiendo de si el cebador (primer) origine una señal positiva, podremos distinguir el gen salvaje del gen mutado, ARMS es un método especialmente sensible para la detección de mutaciones.
- 19. RESULTADOS
- 20. RESULTADOS
- 21. RESULTADOS
- 22. DISCUSSION
- 23. CONCLUSIONS 1. Themainimportant of thiswork, goesaroundperson`slive, becausewhenparentshavetotakethoseharddecitionsscienceshouldbetherehelpingthem. 2. Wolrdisnotpreparedforpersosnthatneedspecialatention, and i thinkthisarms-pcr examen should`vebeen done lot of time, givingpatients a betterlive and psycologicaldevelopment.
- 24. CONCLUSIONS 3. In this study of congenital adrenal hyperplasia, it reported major problems on births associated with this pathology, principally the presence of sexual ambiguity, because this genetic defect may be know before the birth, for improvement the quality of life in this patients.
- 25. CONCLUSIONS 4. The relationship between phenotype and genotype, gives a clearer approach to congenital adrenal hyperplasia. This disease is expressed with different signs and symptoms that make the medical consultation will be directly aimed at a specified classification, and according to a diagnosis may be hormone deficiency due to total or partial absence of the enzyme.
- 28. GRACIAS!