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Article

Clinical characteristics and molecular genetic analysis of a cohort with idiopathic congenital hypogonadism.

Journal of pediatric endocrinology & metabolism : JPEM - 25 Jun 2021

Turkyilmaz Ayberk, Cayir Atilla, Yarali Oguzhan, Kurnaz Erdal, Kartal Baykan Emine, Arslan Ates Esra, Demirbilek Huseyin

Abstract excerpt

OBJECTIVES: Hypogonadism is defined as inadequate sex hormone production due to defects in the hypothalamic-pituitary-gonadal axis. In recent years, rare single gene defects have been identified in both hypergonadotropic hypogonadism (Hh), and hypogonadotropic hypogonadism (HH) cases with no chromosomal anomalies. The aim of the present study is to investigate the underlying molecular genetic etiology and the...

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Identifiers

PMID: 33819414
DOI: 10.1515/jpem-2020-0590

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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