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Article

The prevalence of pathogenic variants in medically actionable genes among individuals with idiopathic hypogonadotropic hypogonadism/Kallmann syndrome.

Journal of assisted reproduction and genetics - 1 Mar 2026

Kwal Jaclyn M, Chorich Lynn P, Navitski Anna, Hawkins Zoe, Grater Lindsey, Taylor Hugh S, Kim Hyung-Goo, Layman Lawrence C

Abstract excerpt

PURPOSE: Idiopathic hypogonadotropic hypogonadism (IHH) and Kallmann syndrome (KS) are rare reproductive disorders with known genetic heterogeneity. Using exome sequencing, our group previously reported the prevalence of pathogenic and likely pathogenic (P/LP) variants in genes causing IHH/KS as the primary endpoint of our study. Here, we investigate the frequency of secondary findings (SF) to determine whether...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41436688
DOI: 10.1007/s10815-025-03787-w
PMCID: PMC12982723

Genes

IHH
MAG
MYBPC3
SCN5A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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