Purpose XX male syndrome also known as De la Chapelle syndrome/Testicular Disorder of
Sex Development (DSD) is a rare genetic abnormality, identified by a partial or complete …

The 46, XX male syndrome (de la Chapelle syndrome or 46, XX testicular disorder of sex
development) is a rare form of sex reversal with complex mechanisms leading to a large …

This study aimed to identify the cause of azoospermia in a 38-year-old infertile man who was
referred for genetic testing. Cytogenetic evaluation was performed by G-banding, C …

Background To review the possible mechanisms proposed to explain the etiology of 46, XX
sex reversal by investigating the clinical characteristics and their relationships with …

Background 46, XX testicular disorder of sex development is a rare genetic syndrome,
characterized by a complete or partial mismatch between genetic sex and phenotypic sex …

Abstract In 20-30% cases of infertility, a primary defect is found in the male partner and
contribute to 50% of patients overall. Studies have shown that the prevalence of both …

Disorder of sex development (DSD) is the term ascribed to a wide group of disorders
presenting with congenital discord between chromosomal sex and phenotypic …

523 screening of the SRY coding region revealed a deletion of adenine (A) at nucleotide
position 70 (c. 70delA) in the patient (Figure 1d). The mutation was not found in her family …

Purpose: To identify the clinical characteristics of SRY-negative male patients and genes
related to male sex reversal, we performed a retrospective study using cases of 46, XX …

The XX male syndrome-Testicular Disorder of Sexual Differentiation (DSD) is a rare
condition characterized by a spectrum of clinical presentations, ranging from ambiguous to …