KEGG   DISEASE: Isolated follicle-stimulating hormone deficiency
Entry
H01253                      Disease                                

Name
Isolated follicle-stimulating hormone deficiency
  Supergrp
Hypogonadotropic hypogonadism [DS:H00255]
Hypopituitarism [DS:H01700]
Hypopituitarism [DS:H01700]
Description
Isolated follicle-stimulating hormone deficiency (IFSHD) can be caused by mutations in the gene encoding the beta chain of follicle-stimulating hormone (FSH). FSH is essential for normal puberty and fertility in females, particularly ovarian follicular development beyond the antral stage. In males, FSH is necessary for normal spermatogenesis and when FSH function is completely absent, infertility occurs. With partial FSH deficiency in males, spermatogenesis is affected, but fertility may still be possible.
Category
Endocrine disease
Brite
Human diseases [BR:br08402]
 Endocrine and metabolic diseases
  Hypothalamus and pituitary gland diseases
   H01253  Isolated follicle-stimulating hormone deficiency
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Endocrine diseases
   Disorders of the pituitary hormone system
    5A61  Hypofunction or certain specified disorders of pituitary gland
     H01253  Isolated follicle-stimulating hormone deficiency
Related
pathway
hsa04080  Neuroactive ligand-receptor interaction
hsa04024  cAMP signaling pathway
Network
nt06323  KISS1-GnRH-LH/FSH-E2 signaling
  Element
N00923  Mutation-inactivated FSHB to FSHR-GNAS-PKA signaling pathway
Gene
FSHB [HSA:2488] [KO:K05250]
Other DBs
ICD-11: 5A61.0
ICD-10: E23.6
MeSH: C537070
OMIM: 229070
Reference
  Authors
Layman LC, McDonough PG
  Title
Mutations of follicle stimulating hormone-beta and its receptor in human and mouse: genotype/phenotype.
  Journal
Mol Cell Endocrinol 161:9-17 (2000)
DOI:10.1016/S0303-7207(99)00217-8
Reference
PMID:9280841
  Authors
Matthews C, Chatterjee VK
  Title
Isolated deficiency of follicle-stimulating hormone re-revisited.
  Journal
N Engl J Med 337:642 (1997)
DOI:10.1056/NEJM199708283370918
Reference
  Authors
Calongos G, Hasegawa A, Komori S, Koyama K
  Title
Comparison of urinary and recombinant follicle-stimulating hormone in in vitro growth, maturation, and fertilization of mouse preantral follicles.
  Journal
Fertil Steril 89:1482-9 (2008)
DOI:10.1016/j.fertnstert.2007.04.058
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