A Novel <em>FGFR1</em> Missense Mutation in a Portuguese Family with Congenital Hypogonadotropic Hypogonadism

A Novel <em>FGFR1</em> Missense Mutation in a Portuguese Family with Congenital Hypogonadotropic Hypogonadism

Congenital hypogonadotropic hypogonadism (CHH) is a rare reproductive endocrine disorder characterized by complete or partial failure of pubertal development and infertility due to deficiency of the gonadotropin-releasing hormone (GnRH). CHH has a significant clinical heterogeneity and can be caused...

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Bibliographic Details
Main Authors: Lúcia Fadiga, Mariana Lavrador, Nuno Vicente, Luísa Barros, Catarina I. Gonçalves, Asma Al-Naama, Luis R. Saraiva, Manuel C. Lemos
Format: Article
Language:English
Published: MDPI AG 2022-04-01
Series:International Journal of Molecular Sciences
Subjects:
hypogonadotropic hypogonadism
Kallmann syndrome
FGFR1
fibroblast growth factor receptor 1
genetics
mutation
Online Access:https://www.mdpi.com/1422-0067/23/8/4423

Internet

https://www.mdpi.com/1422-0067/23/8/4423

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