In this case report, we present a 43-year-old man (XY) with azoospermia and typical male
appearance, at Tanner stage 5 of sexual development, who presented with severe colicky …

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

Introduction: Ovotestis is a rare cause of sexual ambiguity characterized by the presence in
a patient of both testicular and ovarian tissue, leading to the development of both male and …

Objectives To investigate the approach taken by clinicians involved in the diagnosis and
management of individuals with Differences of Sex Development (DSD), particularly with …

Background Determining the causes of female hypogonadism is crucial for guiding
management and preventing complications. This study aimed to categorize the causes of …

Comment on: Congenital dyserythropoietic anemia type IV with KLF1 E325K mutation: A new
case with dysmorphic male genitalia. Report of a second case Comment on: Congenital …

Objective Reliable data on prevalence of differences of sex development (DSD) are lacking.
We aimed to estimate population-based prevalence of DSD in Switzerland. Design …

Methods: This retrospective study included the records of people with DSD presenting to a
tertiary centre over 10 years. The age at presentation, sex assignment, gender identity …

Background: The most common presentation of disorders of sex development (DSD) is in
the neonatal period when a baby is born with atypical (" ambiguous") genitalia, making it …

A 1-year-old girl was referred to our hospital with swelling in the left inguinal region. Her
medical history included an unexplained short stature and growth failure. Physical …