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Clinical and genetic features of 64 young male paediatric patients with congenital hypogonadotropic hypogonadism

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The diagnosis of congenital hypogonadotropic hypogonadism (CHH) in prepuberty has always been challenging. Here, we aimed at studying the clinical and genetic features of paediatric CHH, especially the phenotype of… Click to show full abstract

The diagnosis of congenital hypogonadotropic hypogonadism (CHH) in prepuberty has always been challenging. Here, we aimed at studying the clinical and genetic features of paediatric CHH, especially the phenotype of hypospadias and dual defects (patients showing hypothalamic and/or pituitary defects and testicular hypoplasia), so as to have a better understanding of CHH.

Keywords: features young; clinical genetic; hypogonadotropic hypogonadism; genetic features; congenital hypogonadotropic

Journal Title: Clinical Endocrinology
Year Published: 2017

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