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hrp0092p1-394 | Pituitary, Neuroendocrinology and Puberty (2) | ESPE2019

Next Generation Sequencing in GnRH Deficient Patients with Congenital Hypogonadotrophic Hypogonadism: Novel Findings in KAL1, SRA1, WDR11, FGFR1, CHD7 and PROP1 Genes

Neocleous Vassos , Fanis Pavlos , Toumba Meropi , Cinarli Feride , Schiza Melpo , Stylianou Charilaos , Tanteles George A , Oulas Anastasios , Spyrou George M , Skordis Nicos , Phylactou Leonidas A

Abstract: Objective: Congenital hypogonadotropic hypogonadism (CHH) is a rare genetic disease caused by GnRH deficiency and characterized by absent or incomplete puberty with infertility. The identification of the genetic cause in this group of patients through the use of next generation sequencing (NGS) can assist to the clinical management.Methods: Seven GnRH deficient nonrelated Cypriot probands were ...

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ESPE Abstracts

Next Generation Sequencing in GnRH Deficient Patients with Congenital Hypogonadotrophic Hypogonadism: Novel Findings in KAL1, SRA1, WDR11, FGFR1, CHD7 and PROP1 Genes

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