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31 Cards in this Set
- Front
- Back
what is it called if a male is 46XX?
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sex reversal
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what syndrome is it if a female is 46XY?
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Swyer's syndrome
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what syndrome is it if a female is 45XO?
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Turner's syndrome
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what syndrome is it if a male is 47XXY?
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Klinefelter's syndrome
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what superfamily does AMH belong to?
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TGF-B
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what does AMH stand for?
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Anti-mullerian syndrome
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what signalling pathway does AMH activate?
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BMP-like signalling pathway
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What receptor does AMH work via?
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AMHR2 - type II receptor in combination with ALK3/ALK3/ALK6 (type I receptor)
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What activity do the AMH receptors possess?
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intrinsic serine threonine
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Where and when is AMH synthesised?
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sertoli cells in the fetal testis at 6 weeks of birth (early gestation)
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What is persistant mullerian duct syndrome?
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The Mullerian duct stays and forms the internal female genitalia.
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What is the most common defect causing Persistant Mullerian duct syndrome?
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defect at 19p13 (includes AMH)
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What is 40% of PMDS caused by?
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defect at 12q13 (includes AMHR2)
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What activates Androgen receptor with intermediate affinity?
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testosterone
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What activates Androgen receptor with high affinity?
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5a-dihydrotestosterone
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Where is testosterone synthesised?
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leydig cells of fetal testis
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What does testosterone stimulate?
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differentiation of internal genitalia - wolfarian duct derivatives = epididymis, vas deferens, prostate gland and seminal vesicles
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What can't pre-pubertal concentrations of testosterone stimulate?
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differentiation of external genitalia
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Where is 5a-dihydrotestosterone synthesised?
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in genital skin fibroblasts by action of 5a-reductase type II
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What does 5a-dihydrotestosterone stimulate?
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differentiation of external genitalia and growth of internal genitalia
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Where is 5a-reductase expressed?
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smooth ER
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what are the 2 types of 5a-reductase?
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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 |
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What causes imperato-Mcginley syndrome?
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mutation in SRD5A2
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What is androgen insensitivity syndrome?
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failure to synthesise testosterone/DHT. Mutation of androgen receptor
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What drives sertoli cell differentiation?
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SRY gene
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What upregulates AMH gene in sertoli cells? What does it upregulate in leydig cells?
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SF1
upregulates STAR and steroidogenic enzymes in leydig cells |
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What is required for the formation of gonadotroph cells and ventro-medial hypothalamus?
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SF1
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Which testicular cells are the most sensitive to toxic actions?
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sertoli cells
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What is the Jost principle?
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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.
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Where is SRD5A1 predominantly expressed?
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liver and sebaceous glands
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Where is SRD5A2 predominantly expressed?
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urogenital tract, genital skin and liver
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