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Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism – a clinical perspective

15 Dec 2022

Abstract excerpt

Congenital hypogonadotropic hypogonadism (CHH) is a rare endocrine disorder that results in reproductive hormone deficiency and reduced potential for fertility in adult life. Discoveries of the genetic aetiology of CHH have advanced dramatically in the past 30 years, with currently over 40 genes recognised to cause or contribute to the development of this condition. The genetic complexity of CHH is further...

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Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
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PMID: 36517585
DOI: 10.1038/s41431-022-01261-0

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