Expanding the mutational spectrum of monogenic hypogonadotropic hypogonadism: novel mutations in ANOS1 and FGFR1 genes

Expanding the mutational spectrum of monogenic hypogonadotropic hypogonadism: novel mutations in ANOS1 and FGFR1 genes

Abstract Background Congenital hypogonadotropic hypogonadism (CHH) is a rare disease, triggered by defective GnRH secretion, that is usually diagnosed in late adolescence or early adulthood due to the lack of spontaneous pubertal development. To date more than 30 genes have been associated with CHH...

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Bibliographic Details
Main Authors: Agnieszka Gach, Iwona Pinkier, Maria Szarras-Czapnik, Agata Sakowicz, Lucjusz Jakubowski
Format: Article
Language:English
Published: BMC 2020-01-01
Series:Reproductive Biology and Endocrinology
Subjects:
Congenital hypogonadotropic hypogonadism
Kallmann syndrome
ANOS1 mutations
FGFR1 mutations
Human reproduction
Online Access:https://doi.org/10.1186/s12958-020-0568-6

Internet

https://doi.org/10.1186/s12958-020-0568-6

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