Embro & CAH Flashcards
Week 3
Germ cells being in yolk sac and migrate to genital ridges
Week 4-5
Undifferentiated gonads appear as genital ridges
WT-1 and SF-1 important transcription factors
Week 6
if germ cells have not completely migrated to genital ridges, then streak gonads
SRY in XY male will lead to gonads differentiating into testes (SOX-9 import for testicular dif)
Week 8
Male: Leydig cells secrete testosterone –> rete testis. Paramesonephric deg. Mesonephric -> epididymis, vas deferens, seminal vesicles. Need testosterone & AMH (from sertoli)
Female: sex cords from medulla deg and new cords from cortex dev (double DAX1 and beta-catenin important). Meso deg & parameso -> fallopian tubes, uterus, upper vagina
Week 16
Rete testis cords connect to mesonephric duct/ductus deferens
CAH in XX, DSD
95% is the cause of XX, DSD
Most due to 21-Hydroxylase deficiency
Gonadal Dysgenesis
Complete gonadal dysgenesis (female external genitalia and streak gonads)
Partial gonadal dysgenesis (ambiguous genitalia with different degrees of virilization)
5-alpha-reductase Def
(undervirilized, testes in
inguinal canal or labial-scrotal folds, Wollfian ducts differentiated, at puberty spontaneous virilization occurs)
Androgen Insensitivity Synd
Mutation in androgen receptor
Mullerian ducts regress AND Wolffian ducts
Externally female but gonads in inguinal canal/abdomenhernia risk
Primary amenhorrea
Little to no pubic or axillary hair
Gonadectomy is necessary to prevent
malignancy
21- hydroxylase Def
External virilization in females, but male normal Hyperpigmentation HypoNa/HyperK Milder may find in puberty Most common AD def Tx: glucocortioids +/- mineral
11-B-hyroxylase
No salt wasting (often HTN)
Virilization
Bicornate
one cervix, communicating endometrial cavities
Didelphys
2 cervixes
Septate Uterus
Most common Mullerian defect (55%)
Arcuate uterus is variation of septate uterus that is mild (
Leydig cells
Respond to LH
Form Testosterone
