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Clinical Characteristics and Genetic Analyses of Patients with Idiopathic Hypogonadotropic Hypogonadism

Journal of clinical research in pediatric endocrinology - 29 May 2023

Çiftci Nurdan, Akıncı Ayşehan, Akbulut Ekrem, Çamtosun Emine, Dündar İsmail, Doğan Mustafa, Kayaş Leman

Abstract excerpt

Objective: Idiopathic hypogonadotropic hypogonadism (IHH) is classified into two groups-Kalman syndrome and normosmic IHH (nIHH). Half of all cases can be explained by mutations in >50 genes. Targeted gene panel testing with nexrt generation sequencing (NGS) is required for patients without typical phenotypic findings. The aim was to determine the genetic etiologies of patients with IHH using NGS, including 54...

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Identifiers

PMID: 36700485
DOI: 10.4274/jcrpe.galenos.2023.2022-10-14
PMCID: PMC10234052

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