Congenital adrenal hyperplasia is the most common cause of
Ans. d. (Female pseudohermaphroditism ) (Ref. Guyton 11th ed., Table 23-1).Congenital Adrenal Hyperplasia# Usually due to a congenital enzyme charactrized by cortisol deficiency and enlargement of adrenal glands# There are 3 most common forms; all cause virillism and are called adrenogenital syndromes;- Partial 21-hydroxylase deficiency: normal aldosterone function and impaired cortisol production.- Salt-losing syndrome: near total 21-hydroxylase deficiency and aldosterone deficiency; infants present with vomiting, dehydration, hyponatremia, hyperkalemia- 11-hydroxylase deficiency: leads to excessive androgen production and buildup of 11-deoxycorticosterone (strong mineralocorticoid), causing virilization, hypertension, hypokalemia.CLASSIFICATION OF THE MAJOR DISORDERS OF SEX DIFFERENTIATION IN HUMANS# Chromosomal disorders- Gonadal dysgenesis (XO and variants)- "Superfemales" (XXX)- Seminiferous tubule dysgenesis (XXY and variants)- True hermaphroditism# Developmental disorders- Female pseudohermaphroditism# Congenital virilizing adrenal hyperplasia of fetus# Maternal androgen excess# Virilizing ovarian tumor# Iatrogenic: Treatment with androgens or certain synthetic progestational drugs- Male pseudohermaphroditism# Androgen resistance# Defective testicular development# Congenital 17-hydroxylase deficiency# Congenital adrenal hyperplasia due to blockade of pregnenolone formation# Various non-hormonal anomaliesCongenital Adrenal HyperplasiaEnzyme deficiencyGlucocorticoidsMineralocarticoidsAndrogensOther effects20, 22 desmolase|||# Lethal if complete3 b-OH SDH||| DHEA# Masculinization of females in utero# Incomplete precocious puberty (males)# Adrenal hyperplasia# Hyponatremia and hypovolemia21b-OH|||# Masculinization of females in utero# Incomplete prococious puberty (males)# Adrenal hyperplasia# Hyponatremia and hypovolemia11 b-OH|| aldosterone|| |DOC* # Mineralocorticoid excess (DOC)# Hypervolemia and hypernatremia# Sexual effects as above17 a-OH||aldosterone| | |DOC*||# DOC excess# Absent 2deg sexual aspects both sexes# Amenorrhea17, 20LNormalNormal||# Absent 2deg sexual aspects both sexes# Amenorrhea
True hermaphroditism
Male pseudohermaphroditism (underandrogenized male 46XY)
Turner's syndrome
Female pseudohermaphroditism (androgenized female 46XX)
Endocrinology