BACKGROUND AND OBJECTIVE It is unclear whether the proportion of infants with a disorder of sex development who are raised as male or female has changed over time. The temporal trends in sex assignment of affected cases entered in the International Disorder of Sex Development (I-DSD) Registry were studied. METHODS Cases of disorders of sex development reported as partial androgen insensitivit...

An 18-year old, phenotypically female individual was examined for primary amenorrhea. Three months before her referral, the patient underwent surgery and a pelvic mass was removed. The physical examination revealed normal female external genitalia, normal breast development, sparse pubic hair and absence of axillary hair. The gynecological examination revealed a short blind vagina pouch and abs...

OBJECTIVE To study the clinical profile and the management of patients with disorders of sex development (DSD). DESIGN AND SETTING Retrospective study from a tertiary care hospital of North India. METHODS AND PATIENTS One hundred ninety-four patients of DSD registered in the Endocrine clinic of Postgraduate Institute of Medical Education and Research, Chandigarh between 1995 and 2014 were in...

We present data to suggest the existence of a mental retardation (MR) locus at Xq11.2-q12 between DXS1 and DXS905, identified in two subjects with complete androgen insensitivity syndrome (CAIS) and MR. Androgen insensitivity syndrome is a disorder of male sexual differentiation caused by a defect in the androgen receptor (AR) gene (Xq11-q12). Two subjects with CAIS resulting from a complete de...

OBJECTIVE To describe sexual function and satisfaction after laparoscopic Davydov vaginoplasty in patients with an absent vagina due to Mayer-Rokitansky-Kuster-Hauser syndrome or androgen insensitivity syndrome compared with a control female population. DESIGN A descriptive study of standardized, validated psychosexual and functional outcomes using a self-report questionnaire. SETTING Two t...