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

Purpose To assess the population-based incidence, prevalence, and age at diagnosis of
individuals with 45, X/46, XY mosaicism (and associated variants) and describe the …

Context Larger studies on outcomes in males with 45, X/46, XY mosaicism are rare.
Objective To compare health outcomes in males with 45, X/46, XY diagnosed as a result of …

Objective Few studies of patients with a 45, X/46, XY mosaicism have considered those with
normal male phenotype. The purpose of this study was to evaluate the clinical outcome of …

Introduction: Infertility affects an estimated 15% of couples globally and in Iran, a quarter of
couples experiences primary infertility. Males are found to be individually responsible for 20 …

Objective To evaluate the growth data, gonadal functions and tumour risk in children with 45,
X/46, XY mosaicism. Design We reviewed retrospectively the records of 45 patients with 45 …

Background The aim of this study was to review the growth data, gonadal function and
tumour risk of children and adolescents with 45, X/46, XY mosaicism who presented to a …

Chromosomal abnormality is a primary genetic factor that lead to azoospermia and male
infertility. Here, we report the cases of two brothers with primary infertility, whose …

Objective Insulin-like factor 3 (INSL3) is produced in the testes and has been proposed as a
circulating biomarker of Leydig cell capacity, but remains undescribed in 45, X/46, XY …

The phenotypic spectrum of 45, X/46, XY mosaic males varies greatly. Previous reports have
only described cases with either oligozoospermia, growth retardation, or elevated …