Searchable abstracts of presentations at key conferences in endocrinology

ea0063ep125 | Reproductive Endocrinology | ECE2019

A rare case of hypergonadotrophic hypogonadism by 47,XXY/46,XX mosaic

Chaves Catarina , Cunha Filipe , Rangel Ricardo , Coelho Daniela , Vieira Margarida , Garrido Susana , Martinho Mariana , Almeida Margarida

Introduction: Klinefelter syndrome (KS) represents the most common cause of hypergonadotrophic hypogonadism, with an estimated prevalence of 1:500 to 1:1000 men. This syndrome is characterized by the presence of an additional X chromosome. Eighty percent present with a 47,XXY karyotype and the remaining 20% present with a 47,XXY/46,XY mosaic or with multiple X chromosome aneuploidies, often with additional Y chromosomes. The presence of a 47,XXY/46,XX mosaic with male phenotyp...