19971 - Congenital Adrenal Hyperplasia Dr. Abdelaziz...

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Congenital Adrenal Hyperplasia Dr. Abdelaziz Elamin. MD, PhD, FRCPCH  Professor of Child Health Sultan Qaboos University, Muscat, Oman
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What is CAH? It is a familial disorder of adrenal steroid biosynthesis  with autosomal  recessive mode of inheritance. The defect is expressed as adrenal enzyme  deficiency. 5 major Enzymes deficiency are clinically important 21-Hydroxylase 11-b-Hydroxylase 17-a-Hydroxylase 3-b-Hsteroid hydrogenese 20,22 Desmolase deficiency
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CAH The enzyme deficiency causes reduction in  end-products, accumulation of hormone  The clinical picture reflects the effects of  aldosterone and the increased production of  androgens & steroid metabolites.
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21-Hydroxylase Deficiency Most common type, accounts for >80% of  cases. Incidence is 1:5000 to 1:15000 live birth. Gene is located on the short arm of  chromosome 6 near the C4 locus in close  association with HLA genes.  Heterozygous carriers can be detected by  ACTH stimulation test.
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21-Hydroxylase deficiency/2 It is characterized by reduced production of  cortisol and aldosterone and increased  production of progesterone;                                    17-OH-progesterone, and sex steroids. The urinary steroid metabolites                            (17-ketosteroids and pregnanetriol) are  elevated above normal levels.
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21-Hydroxylase deficiency/3 Decreased secretion of aldosterone results in salt  loss with hyponatremia and hyperkalemia; plasma  renin activity is therefore elevated. In partial enzyme deficiencies, the aldosterone  deficiency is not expressed, and patients remain  normonatremic and normokalemic. ambiguous genitalia & dark scrotum in boys.
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21-Hydroxylase Deficiency/4 2 forms, classic early virilization type with  or without salt-losing crisis and non- classic type with late-onset virilization. Male babies with non salt-losing non- classic type remains asymptomatic till late  childhood when they may show signs of  sexual precocity.
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21-Hydroxylase Deficiency/5 Because members of the same family may  forms, the disorder may be due to allelic  variations of the same enzyme.  Mass neonatal screening using filter paper  blood sample for 17-OH-Progesterone is  used in the USA.
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11- β -Hydroxylase Deficiency Accounts for 5-10% of cases of CAH.
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This note was uploaded on 02/23/2012 for the course PHARM 290 taught by Professor Staff during the Fall '10 term at Rutgers.

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19971 - Congenital Adrenal Hyperplasia Dr. Abdelaziz...

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