Article
DLG2 Mutations in the Etiology of Pubertal Delay and Idiopathic Hypogonadotropic Hypogonadism.
Hormone research in paediatrics - 1 Jan 2021
Turan Ihsan, Demir Korcan, Mengen Eda, Kotan Leman Damla, Gürbüz Fatih, Yüksel Bilgin, Topaloglu Ali Kemal
Abstract excerpt
INTRODUCTION: Idiopathic hypogonadotropic hypogonadism (IHH) is caused by dysfunction of the hypothalamic-pituitary-gonadal axis. DLG2 was recently implicated as a gene associated with delayed puberty and which may also contribute to IHH. The confirmation of the candidate puberty genes in independent IHH cohorts has become crucial due to the lack of proper genotype-phenotype segregations in reported pedigrees....
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