In this review, the elements included in both sex determination and sex differentiation are
briefly analyzed, exposing the pathophysiological and clinical classification of disorders or …

Disorders of sex development (DSD) are conditions where genetic, gonadal, and/or
internal/external genital sexes are discordant. In many cases, serum testosterone …

Abstract An Endo-European Reference Network guideline initiative was launched including
16 clinicians experienced in endocrinology, pediatric and adult and 2 patient …

Disorders of Sex Development (DSD) are congenital anomalies in which there is a
discordance between chromosomal, genetic, gonadal, and/or internal/external genital sex …

A region of 160 kb at Xp21. 2 has been defined as dosage-sensitive sex reversal (DSS) and
includes the NR0B1 gene, considered to be the candidate gene involved in XY gonadal …

Diagnosis and management of individuals who have differences of sex development (DSD)
due to numerical or structural variations of sex chromosomes (NSVSC) remains challenging …

Introduction: NR5A1 is an essential transcription factor that regulates several target genes
involved in reproduction and endocrine function. Pathogenic variants in this gene are …

The management of Differences of Sex Development (DSD) has evolved considerably in
recent years. The questioning of systematic early childhood treatment of DSD requires a …

Abstract Objective Individuals with 45, X/46, XY or 46, XY gonadal dysgenesis are at
increased risk of germ cell malignancies. Therefore, prophylactic bilateral gonadectomy is …

Children born with sex chromosomal mosaicism including material derived from the Y
chromosome may present with a broad phenotypical spectrum. Both boys and girls can …