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31 Cards in this Set

  • Front
  • Back
what is it called if a male is 46XX?
sex reversal
what syndrome is it if a female is 46XY?
Swyer's syndrome
what syndrome is it if a female is 45XO?
Turner's syndrome
what syndrome is it if a male is 47XXY?
Klinefelter's syndrome
what superfamily does AMH belong to?
TGF-B
what does AMH stand for?
Anti-mullerian syndrome
what signalling pathway does AMH activate?
BMP-like signalling pathway
What receptor does AMH work via?
AMHR2 - type II receptor in combination with ALK3/ALK3/ALK6 (type I receptor)
What activity do the AMH receptors possess?
intrinsic serine threonine
Where and when is AMH synthesised?
sertoli cells in the fetal testis at 6 weeks of birth (early gestation)
What is persistant mullerian duct syndrome?
The Mullerian duct stays and forms the internal female genitalia.
What is the most common defect causing Persistant Mullerian duct syndrome?
defect at 19p13 (includes AMH)
What is 40% of PMDS caused by?
defect at 12q13 (includes AMHR2)
What activates Androgen receptor with intermediate affinity?
testosterone
What activates Androgen receptor with high affinity?
5a-dihydrotestosterone
Where is testosterone synthesised?
leydig cells of fetal testis
What does testosterone stimulate?
differentiation of internal genitalia - wolfarian duct derivatives = epididymis, vas deferens, prostate gland and seminal vesicles
What can't pre-pubertal concentrations of testosterone stimulate?
differentiation of external genitalia
Where is 5a-dihydrotestosterone synthesised?
in genital skin fibroblasts by action of 5a-reductase type II
What does 5a-dihydrotestosterone stimulate?
differentiation of external genitalia and growth of internal genitalia
Where is 5a-reductase expressed?
smooth ER
what are the 2 types of 5a-reductase?
type 1 = SRD5A1 which is encoded on the short arm of chromosome 5

and type II - SRD5A2 which is encoded on short arm of chromosome 2
What causes imperato-Mcginley syndrome?
mutation in SRD5A2
What is androgen insensitivity syndrome?
failure to synthesise testosterone/DHT. Mutation of androgen receptor
What drives sertoli cell differentiation?
SRY gene
What upregulates AMH gene in sertoli cells? What does it upregulate in leydig cells?
SF1

upregulates STAR and steroidogenic enzymes in leydig cells
What is required for the formation of gonadotroph cells and ventro-medial hypothalamus?
SF1
Which testicular cells are the most sensitive to toxic actions?
sertoli cells
What is the Jost principle?
Mullerian development will occur unless inhibited by a factor secreted locally by the fetal testes. Wolffian ducts persist only if the testes secrete an androgen, probably testosterone. In the absence of androgens, wolffian ducts fail to persist.
Where is SRD5A1 predominantly expressed?
liver and sebaceous glands
Where is SRD5A2 predominantly expressed?
urogenital tract, genital skin and liver