Congenital adrenal hyperplasia is the most common cause of
Correct Answer: Female pseudohermaphroditism (androgenized female 46XX)
Description: 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
Category:
Pediatrics
Get More
Subject Mock Tests
Practice with over 200,000 questions from various medical subjects and improve your knowledge.
Attempt a mock test nowMock Exam
Take an exam with 100 random questions selected from all subjects to test your knowledge.
Coming SoonGet More
Subject Mock Tests
Try practicing mock tests with over 200,000 questions from various medical subjects.
Attempt a mock test now