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Article

Functional Genetic Variation in the Anti-Müllerian Hormone Pathway in Women With Polycystic Ovary Syndrome

20 Feb 2019

Abstract excerpt

CONTEXT: Polycystic ovary syndrome (PCOS) is a highly heritable, common endocrine disorder characterized by hyperandrogenism, irregular menses, and polycystic ovaries. PCOS is often accompanied by elevated levels of anti-Müllerian hormone (AMH). AMH inhibits follicle maturation. AMH also inhibits steroidogenesis through transcriptional repression of CYP17A1. We recently identified 16 rare PCOS-specific pathogenic...

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PMID: 30786001
DOI: 10.1210/jc.2018-02178

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Functional Genetic Variation in the Anti-Müllerian Hormone Pathway in Women With Polycystic Ovary SyndromePMID 30786001Read ↗

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POLYCYSTIC OVARY SYNDROME: ORIGINS AND IMPLICATIONS: Genetics of polycystic ovary syndrome (PCOS).Semantic proximity Read ↗

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Functional analysis of rare anti-Müllerian hormone protein-altering variants identified in women with PCOSSemantic proximity Read ↗

Genome-wide association study identifies common and low-frequency variants at the AMH gene locus that strongly predict serum AMH levels in males.Semantic proximity Read ↗

Genome-wide association study meta-analysis identifies three novel loci for circulating anti-Müllerian hormone levels in womenSemantic proximity Read ↗

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