Isolated follicle stimulating hormone deficiency

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Isolated follicle stimulating hormone deficiency

Synonyms: Isolated FSH deficiency

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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