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Article

[Inactivating and activating mutations of the human LH/hCG receptor leading to male pseudohermaphroditism and familial male-limited precocious puberty].

Nihon rinsho. Japanese journal of clinical medicine - 1 Feb 2002

Fujieda Kenji, Ito Yoshiya

Abstract excerpt

The human luteinizing hormone/chorionic gonadotropin receptor(LHR) plays an important role in normal reproductive function in humans. Binding of LH to the LHR triggers production of intracellular c-AMP resulting in transcriptional activation of LH responsive genes. Mutations of the human LHR receptor lead to the development of three clinical conditions, namely, Leydig cell hypoplasia, hypergonadotropic...

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PMID: 11857912

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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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