Journal of Endocrinological Investigation,

In memory of Giulio Giordano

Journal of Endocrinological Investigation

Thu May 07, 2020 03:00

Disorders of sexual development with XY karyotype and female phenotype: clinical findings and genetic background in a cohort from a single centre

Abstract Purpose 46, XY disorders (or differences) of sex development (DSD) are a group of clinical conditions with variable genetic background; correct diagnosis is often difficult, but it permits to optimize the management. The aim of this study is to identify clinical and genetics features of a group of women with 46, XY DSD to define some issues characterizing people with 46, XY DSD in Italy. ...

Journal of Endocrinological Investigation

Wed May 06, 2020 03:00

From mini-puberty to pre-puberty: early impairment of the hypothalamus–pituitary–gonadal axis with normal testicular function in children with non-mosaic Klinefelter syndrome

Abstract Purpose Klinefelter syndrome (KS) is a genetic disorder caused by the presence of an extra X chromosome in males. The aim of this study was to evaluate the hypothalamic–pituitary–gonadal (HPG) axis and the clinical profile of KS boys from mini-puberty to early childhood. Patients and methods In this retrospective, cross-sectional, population...

Journal of Endocrinological Investigation

Wed May 06, 2020 03:00

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