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Article

Gonadotropin-releasing hormone receptor mutation as a cause of pubertal delay.

BMJ case reports - 1 Jun 2026

Lucas Miguel, da Bernarda Rodrigues Inês, Rosmaninho-Salgado Joana, Mirante Alice

Abstract excerpt

A mid-adolescent boy presented with pubertal delay and micropenis. His sister had amenorrhoea. Laboratory evaluation confirmed hypogonadotropic hypogonadism. Brain MRI showed normal pituitary and hypothalamus, though the olfactory bulbs assessment was limited by artefacts. Testosterone therapy enabled the development of secondary sexual characteristics. Subsequent genetic testing identified compound heterozygous...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 42225324
DOI: 10.1136/bcr-2025-271583

Genes

IHH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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