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GENATLAS PHENOTYPE

last update : 11-10-2022

Symbol	HH24
Location	11p13
Name	hypogonadotropic hypogonadism 24 without anosmia
Other name(s)	follicle-stimulating hormone deficiency, isolated
Corresponding gene	FSHB
Other symbol(s)	FSHB
Main clinical features	delayed puberty, primary amenorrhea, infertility (FSH deficiency, isolated), hypogonadism in man absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis
Genetic determination	autosomal recessive
Function/system disorder	endocrinology
Type	disease

Gene product

Name	follicle stimulating hormone, beta polypeptide (FSHB)

Remark(s)