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Article

Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty.

Human molecular genetics - 1 Nov 1993

Kremer H, Mariman E, Otten B J, Moll G W, Stoelinga G B, Wit J M, Jansen M, Drop S L, Faas B, Ropers H H

Abstract excerpt

Familial male-limited precocious puberty is a male-limited autosomal dominant condition. It is characterized by increased testosterone synthesis in the absence of testicular stimulation by luteinizing hormone (LH). We hypothesised that an abnormal configuration of the LH receptor might autonomously activate G protein coupling, and thereby cause the overproduction of testosterone in this condition. To test this...

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PMID: 8281137
DOI: 10.1093/hmg/2.11.1779

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

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Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty.PMID 8281137Read ↗

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Heterogeneity of activating mutations of the human luteinizing hormone receptor in male-limited precocious puberty.Semantic proximity Read ↗

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A missense mutation in the second transmembrane segment of the luteinizing hormone receptor causes familial male-limited precocious puberty.Semantic proximity Read ↗

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