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hypogonadotropic hypogonadism 23 with or without anosmia

Disease Summary
Associated Targets (2)
Tclin

1

Tbio

1


GARD Rare
Mondo Description Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the LHB gene.
Uniprot Description A form of hypogonadotropic hypogonadism, a group of disorders characterized by 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. HH23 male patients have normal sexual differentiation, reduced or absent Leydig cells, reduced or absent spermatogenesis, and absence of spontaneous puberty. Female patients exhibit normal pubertal development and menarche, followed by oligomenorrhea and anovulatory secondary amenorrhea.
Mondo Term and Equivalent IDs
MONDO:0009223:  hypogonadotropic hypogonadism 23 with or without anosmia
GARD:0010127: 
MESH:C537919: 
Orphanet:325448: 
SCTID:8829008: 
UMLS:C0271582: