I: Embryology/CAH Flashcards
Development of the bipotential gonad begins at week __ gestation.
5
Primordial germ cells migrate from the yolk sac to the genital ridges during week __ gestation.
6
____ syndrome: absent/underdeveloped Mullerian structures in a 46,XX female.
Rokitansky
_____ produced by Leydig cells promote development of ______ structures.
Testosterone; Wolffian
______ is the factor responsible for male differentiation during fetal development.
SRY
_____: failure of testes to reach scrotal sac
Cryptorchidism
AMH is produced by _____ cells.
Sertoli
In females with 21-hydroxylase deficiency, ____ anatomy is normal and _____ anatomy is virilized.
internal; external
Leydig cells begin secreting testosterone at wekk __ gestation.
8
Leydig cells receive stimulation by _____ during the first trimester and _____ during the second and third trimesters.
hCG, LH
Male external genitalia complete by ___ weeks gestation.
13
Name 3 derivates of the Mullerian system.
Fallopian tubes, uterus, upper vagina
Name 3 derivatives of the Wolffian duct system.
Epididymis, Vas deferens, seminal vesicle
Name 4 causes of 46,XX DSD.
Congenital Adrenal Hyperplasia, Ovotesticular DSD, SRY Translocation (Sex reversal), Gestational Hyperandrogenism
Name 4 causes of 46,XY DSD.
Gonadal Dysgenesis, Steroidogenesis Defects, Androgen Insensitivity Syndrome, 5-alpha-reductase deficiency
Normal stretched penile length at birth: __
2.5cm
Penile growth and penile urethra development are particularly reliant on stimulation by _____.
DHT
Testes descend into the scrotum by ___ weeks gestation
33
The genital tubercle gives rise to the _____.
Penis, clitoris
The labia majora and scrotum are derived from the ______.
Labial-Scrotal Swellings
The penile urethra and labia minora are derived from the ______.
Urethral folds
The penis and clitoris are derived from the ______.
Genital tubercle
The urethral folds give rise to the _____.
Penile urethra and labia minora
What is a diagnostic test for 21-hydroxylase deficiency?
17-hydroxyprogesterone level
Which adrenal enzyme deficiencies often present with hypertension?
11-Beta-Hydroxylase, 17,20-lyase, 17-alpha-hydroxylase
Which adrenal enzyme deficiencies present with salt wasting?
STAR deficiency, 3-Beta-Hydroxysteroid Dehydrogenase, 21-Hydroxylase
Which adrenal enzyme deficiencies present with virilization in boys and girls?
21-hydroxylase, 11-Beta-hydroxylase
Which adrenal enzyme deficiency is most common?
21-hydroxylase
Which adrenal enzyme deficiency presents with overvirilization in girls and undervirilization in boys?
3-Beta-Hydroxysteroid Dehydrogenase
Which male transcription factors increase expression of AMH?
SOX-9, SF-1
Which process? Normal female external genitalia with absence of Mullerian or Wolffian duct structures, intra-abdominal or inguinal gonads
Androgen Insensitivity Syndrome
Which process? Streak gonads and normal external female genitalia, present at puberty with amenorrhea and delayed puberty, 46,XY
Gonadal Dysgenesis
Which process? Testes in inguinal or labial-scrotal folds, undervirilization male, spontaneous virilization at puberty
5-alpha-reductase deficiency
