Background Adolescents with 46, XY disorders of sex development (DSD) face additional
medical and psychological challenges. To optimize management and minimize hazards …

Background: The term disorders of sex development (DSD) includes congenital conditions
in which development of chromosomal, gonadal, or anatomical sex is atypical. The spectrum …

Purpose: To present the clinical data, investigative profile, and management of patients with
disorders of sex development (DSD) from the endocrine unit of a tertiary care university …

Background: The potential involvement of SRY in abnormal gonadal development in 45,
X/46, X, der (Y) patients was proposed following the identification of SRY mutations in a few …

Abstract 46, XX male sex reversal syndrome is a rare genetic cause of male infertility. We
report on two new cases of this syndrome in men presenting with hypogonadism and …

OBJECTIVE: To determine the genetic cause of primary amenorrhea in a 46, XY woman.
DESIGN: Case report. SETTING: Centre of Gynecological Endocrinology and Cytogenetics …

Abstract Design Case report. Setting Department of Obstetrics and Gynecology, Alexandria
University, Egypt. Introduction Swyer's syndrome is a distinct type of pure gonadal …

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 …

Klinefelter syndrome (KS) is the most common genetic form of male hypogonadism. The
majority (80-90%) of patients have 47, XXY karyotype while mosaicism is seen in only 10 …

Objective SRY‐negative 46, XX testicular and ovotesticular disorders/differences of sex
development (T/OTDSD) represent a very rare and unique DSD condition where testicular …