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Article

PLXNB1 mutations in the etiology of idiopathic hypogonadotropic hypogonadism.

Journal of neuroendocrinology - 1 Apr 2022

Welch Bradley A, Cho Hyun-Ju, Ucakturk Seyit Ahmet, Farmer Stephen Matthew, Cetinkaya Semra, Abaci Ayhan, Akkus Gamze, Simsek Enver, Kotan Leman Damla, Turan Ihsan, Gurbuz Fatih, Yuksel Bilgin, Wray Susan, Topaloglu A Kemal

Abstract excerpt

Idiopathic hypogonadotropic hypogonadism (IHH) comprises a group of rare genetic disorders characterized by pubertal failure caused by gonadotropin-releasing hormone (GnRH) deficiency. Genetic factors involved in semaphorin/plexin signaling have been identified in patients with IHH. PlexinB1, a member of the plexin family receptors, serves as the receptor for semaphorin 4D (Sema4D). In mice, perturbations in...

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Identifiers

PMID: 35170806
DOI: 10.1111/jne.13103
PMCID: PMC11370887

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PLXNB1 mutations in the etiology of idiopathic hypogonadotropic hypogonadism.PMID 35170806Read ↗

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