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Article

Homozygous mutation within the conserved Ala-Phe-Asn-Glu-Thr motif of exon 7 of the LH receptor causes male pseudohermaphroditism.

European journal of endocrinology - 1 Nov 2002

Gromoll Jörg, Schulz Angela, Borta Heike, Gudermann Thomas, Teerds Katja J, Greschniok Annette, Nieschlag Eberhard, Seif Fritz J

Abstract excerpt

BACKGROUND: Human chorionic gonadotropin/luteinizing hormone (hCG/LH) function in the male is mediated by the LH receptor (LHR) and is crucial for the normal development of internal and external genitalia. We report a 46, XY patient who presented at the age of 16 with a female phenotype and delayed puberty. Gonads were located bilaterally in the inguinal canal, removed surgically and showed hypoplastic Leydig...

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Source

Identifiers

PMID: 12444891
DOI: 10.1530/eje.0.1470597

Genes

FSHR

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Homozygous mutation within the conserved Ala-Phe-Asn-Glu-Thr motif of exon 7 of the LH receptor causes male pseudohermaphroditism.PMID 12444891Read ↗

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Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene.Semantic proximity Read ↗

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Molecular genetic, biochemical, and clinical implications of gonadotropin receptor mutations.Semantic proximity Read ↗

Mutations in a novel, cryptic exon of the luteinizing hormone/chorionic gonadotropin receptor gene cause male pseudohermaphroditism.Semantic proximity Read ↗

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