Developmental Anomalies

Question 1

Testosterone functions

Answer 1

1. Spermatogenesis
2. Formation of internal genitalia from Wolfian Duct
3. Formation of male external genitalia by DHT
4. Scrotal descent of testes

Question 2

AMH - antimullerian hormone production

Answer 2

Males - Produced by Sertoli cells @ 7th week of IUL

Females - formed by Antral & preantral follicles @ puberty

Question 3

AMH antimullerian hormone- function males

Answer 3

1. Regression of mullerian ducts

2. Abdominal descent of testes

Question 4

Remnants or vestigial organs of mullerian and Wolfman ducts in males

Answer 4

Mullerian duct :- Prostatic Utricle, Appendix of testes;

Wolfian duct :- appendix of Epididymis, Paradidymis.

Question 5

Remnants of wolfian duct in females

Answer 5

PARAOPHERON - mesonephric tubules
EPOOPHERON - mesonephric tubules
GARTNER’S Duct - mesonephric duct
They are present along the round ligament

Question 6

Gartner’s cyst

Answer 6

Block of Gartner’s duct, located in anterior wall of vagina

D/d - bartholin’s cyst - posterior wall of vagina

Question 7

AMH Deficiency in 46XY

Answer 7

• No regression of mullerian duct, hence female internal Genitalia (FUCU) +
• no abdominal descent of testes - Cryptorchidism
• testosterone production normal from Leydig Cells, hence both external and internal genitalia of males +
• less space cause intertwining of ducts
• Vas Deferens obstruction
• infertility
• herniation of uterus - Uterus Hernia Syndrome

Question 8

CAH - congenital adrenal hyperplasia

Pathogenesis

Answer 8

Gene defect coding for enzymes in steroid pathways causing deficiency in adrenal hormones.

Question 9

CAH - enzymes affected in order

Answer 9

1. M/c - 21 hydroxylase
2. 11 B hydroxylase
3. 3 B hydroxysteroid dehydrogenase (hsd)

Question 10

CAH- 21 hydroxylase deficiency pathogenesis

Answer 10

1. Defect in CYP 21A²
2. No mineralocorticoid & glucocorticoid, no feedback inhibition of ACTH adrenal hyperplasia, increased progesterone & testosterone, due to excess androgen production females affected more

Question 11

CAH - 21 hydroxylase deficiency c/f

Answer 11

Salt & water wasting
Hypotension 
Ambiguous genitalia
Precocious puberty 
Short stature
VIRILIZATION- hirsutism, deepening of voice, muscle mass, cliteromegaly

Question 12

CAH - 11 B hydroxylase deficiency

Answer 12

1. No mineralocorticoid & glucocorticoid; androgen & progesterone +
2. Deoxy cortisol levels increases - mineralocorticoid like activity
3. No salt, water wasting hypotension
4. Hypertension + ambiguous genitalia

Question 13

CAH - investigations

Answer 13

Screening test - 17 OH Progesterone levels
Confirmatory - ACTH Stimulation test
Others - 1. Karyotyping, 2. Electrolyte levels, 3. USG for internal genitalia, 4. LG, FSH, Testosterone, Estrogen levels

Question 14

CAH - management

Answer 14

1. Mgt of child with CAH-
   Corticosteroids, fludrocortisone, surgery for cliteromegaly
2. Pregnant female herself is a case of CAH with a male/unaffected fetus- DOC - HYDROCORTISONE
3. Pregnant female with risk of her baby developing CAH -
   DOC - Dexamethasone by 4-5weeks not >9weeks, stop Rx if male/unaffected female child.