Testosterone functions
- Spermatogenesis
- Formation of internal genitalia from Wolfian Duct
- Formation of male external genitalia by DHT
- Scrotal descent of testes
AMH - antimullerian hormone production
Males - Produced by Sertoli cells @ 7th week of IUL
Females - formed by Antral & preantral follicles @ puberty
AMH antimullerian hormone- function males
- Regression of mullerian ducts
2. Abdominal descent of testes
Remnants or vestigial organs of mullerian and Wolfman ducts in males
Mullerian duct :- Prostatic Utricle, Appendix of testes;
Wolfian duct :- appendix of Epididymis, Paradidymis.
Remnants of wolfian duct in females
PARAOPHERON - mesonephric tubules
EPOOPHERON - mesonephric tubules
GARTNER’S Duct - mesonephric duct
They are present along the round ligament
Gartner’s cyst
Block of Gartner’s duct, located in anterior wall of vagina
D/d - bartholin’s cyst - posterior wall of vagina
AMH Deficiency in 46XY
- 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
CAH - congenital adrenal hyperplasia
Pathogenesis
Gene defect coding for enzymes in steroid pathways causing deficiency in adrenal hormones.
CAH - enzymes affected in order
- M/c - 21 hydroxylase
- 11 B hydroxylase
- 3 B hydroxysteroid dehydrogenase (hsd)
CAH- 21 hydroxylase deficiency pathogenesis
- Defect in CYP 21A²
- No mineralocorticoid & glucocorticoid, no feedback inhibition of ACTH adrenal hyperplasia, increased progesterone & testosterone, due to excess androgen production females affected more
CAH - 21 hydroxylase deficiency c/f
Salt & water wasting Hypotension Ambiguous genitalia Precocious puberty Short stature VIRILIZATION- hirsutism, deepening of voice, muscle mass, cliteromegaly
CAH - 11 B hydroxylase deficiency
- No mineralocorticoid & glucocorticoid; androgen & progesterone +
- Deoxy cortisol levels increases - mineralocorticoid like activity
- No salt, water wasting hypotension
- Hypertension + ambiguous genitalia
CAH - investigations
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
CAH - management
- Mgt of child with CAH-
Corticosteroids, fludrocortisone, surgery for cliteromegaly - Pregnant female herself is a case of CAH with a male/unaffected fetus- DOC - HYDROCORTISONE
- Pregnant female with risk of her baby developing CAH -
DOC - Dexamethasone by 4-5weeks not >9weeks, stop Rx if male/unaffected female child.
