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Isolated follicle stimulating hormone deficiency

Disease definition

A rare congenital hypogonadotropic hypogonadism characterized by hypogonadism due to selective deficiency of follicle stimulating hormone (FSH). Clinical manifestations are primary amenorrhea, absent or incomplete breast development, and infertility in women, and small testes, azoospermia, and infertility in men. Luteinizing hormone is elevated in the gonadotropin-releasing hormone stimulation test, while the FSH response is impaired.

ORPHA:52901

Classification level: Disorder
  • Synonym(s):
    • Isolated FSH deficiency
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Adolescent, Adult
  • ICD-10: E23.6
  • OMIM: 229070
  • UMLS: C0342386  C1856716
  • MeSH: C537070
  • GARD: 10128
  • MedDRA: -

Detailed information

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