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 …

Complete androgen insensitivity syndrome (CAIS) is due to complete resistance to the
action of androgens, determining a female phenotype in persons with a 46, XY karyotype …

Appropriate management of disorders of sex development (DSD) has been a matter of
discussion since the first guidelines were published in the 1950s. In the last decade, with the …

The medical and psychosocial challenges faced by patients living with
Disorders/Differences of Sex Development (DSD) and their families can be alleviated by a …

Introduction Disorders of sex development (DSD) constitutes a group of congenital
conditions that affect urogenital differentiation and are associated with chromosomal …

Context Differences of sex development (DSD) represent a wide range of conditions
presenting at different ages to various health professionals. Establishing a diagnosis …

Historically, the terms partial (PGD) and mixed gonadal dysgenesis (MGD) have been used
to describe incomplete testicular differentiation in individuals with 46, XY or 45, X/46, XY …

Purpose Little is known about the phenotypes, diagnoses, and sex of rearing of infants with
atypical genital development in the United States. As part of a multicenter study of these …

Objective: Steroid measurement is a challenge in pediatric endocrinology. Currently, liquid
chromatography with tandem mass spectrometry (LC-MS/MS) is considered a gold standard …

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 …