follicle-stimulating hormone deficiency (FSH deficiency), includes LH deficiency
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Epidemiology
- selective follicle-stimulating hormone deficiency is an uncommon cause of infertility
Genetics
associated with deficiency in FSH
Clinical manifestations
- infertility,
- amenorrhea & hypogonadism in women
- oligospermia or azoospermia with normal testosterone levels in normally virilised men
Laboratory
- serum LH, serum FSH*
- serum testosterone (males)*, serum estriol (females)*
- FSHB gene mutation
* initial diagnostic testing[3]
References
- ↑ OMIM https://mirror.omim.org/entry/229070
- ↑ UniProt http://www.uniprot.org/uniprot/P01225.html
- ↑ 3.0 3.1 Medical Knowledge Self Assessment Program (MKSAP) 17, American College of Physicians, Philadelphia 2015