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Article

A mutation in the first transmembrane domain of the lutropin receptor causes male precocious puberty.

The Journal of clinical endocrinology and metabolism - 1 Feb 1998

Gromoll J, Partsch C J, Simoni M, Nordhoff V, Sippell W G, Nieschlag E, Saxena B B

Abstract excerpt

We describe a patient with onset of puberty at the age of 5 yr. characterized by accelerated growth, enlargement of genitalia, pubarche, and serum hormone levels compatible with noncentral precocious puberty. Exon 11 of the LH receptor gene was amplified from genomic DNA by PCR and directly sequenced. We identified a heterozygous C to T base change at nucleotide position 1126, exchanging codon 373 from Ala to Val...

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Identifiers

PMID: 9467560
DOI: 10.1210/jcem.83.2.4579

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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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A mutation in the first transmembrane domain of the lutropin receptor causes male precocious puberty.PMID 9467560Read ↗

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LH receptor defects.Semantic proximity Read ↗

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