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 …

Hypospadias is the most common congenital malformation of the male external genitalia.
After the heart and circulatory system, it is the second most common developmental disorder …

Objective. To evaluate diagnosis, age of referral, karyotype, and sex of rearing of cases with
disorders of sex development (DSD) with ambiguous genitalia. Methods. Retrospective …

Abstract 45, X/46, XY chromosomal mosaicism presents a range of clinical manifestations,
including phenotypes from Turner syndrome through genital abnormalities to apparently …

Clinical findings illustrate the wide spectrum of the phenotypic manifestations of 45, X/46, XY
mosaicism in the sex chromosome disorders of sex differentiation (DSD). The objective of …

Background/Aims. Studies on 46, XY partial gonadal dysgenesis (PGD) have focused on
molecular, gonadal, genital, and hormone features; little is known about follow‐up. Our aim …

Abstract 45, X/46, XY mosaicism is a rare sex chromosome disorder of sex development.
Short stature is a main feature of boys with this condition. Different causes likely contribute to …

One of the most challenging areas in pediatric testicular pathology is the appropriate
understanding and pathological diagnosis of disorders of sexual development (DSD), and in …

The Y-chromosome-located SRY gene encodes a small testis-specific protein containing a
DNA-binding motif known as the HMG (high mobility group) box. However, mutations in SRY …

Abstract Introduction The mosaicism 45, X/46, XY is a gonosomal abnormality characterized
by a broad phenotypic spectrum, ranging from women with or without Turner syndrome …