title: Clinical, hormonal and radiological profile of 46XY disorders of sexual development.
abstract: OBJECTIVE
  46 XY disorders of sexual development (DSD) cover a wide spectrum of phenotypes ranging from unambiguous female genitalia to ambiguous male genitalia with hypospadias or dysgenetic gonads. Management of these patients depends on the cause of DSD, degree of feminization, age at presentation, and gender orientation. The aim of this study was to evaluate the presentation and management of patients with 46XY DSD at our center.
  
  
  METHODS
  All new and old patients of 46XY DSD attending the endocrine OPD in a period of 16 months were included in this study. Clinical, cytogenetic, hormonal, and radiological evaluation were done to identify the cause of DSD.
  
  
  RESULTS
  Among 19 patients, eight were diagnosed with disorders of gonadal development (one with complete gonadal dysgenesis, four with partial gonadal dysgenesis, two with congenital bilateral anorchia, and one with ovotesticular DSD) and eight with disorders of androgen synthesis and action (one with complete androgen insensitivity syndrome [AIS], three with partial AIS and four with 5α reductase deficiency). In three patients, a definitive diagnosis could not be made.
  
  
  CONCLUSIONS
  Management of patients with DSD depends on etiology, gender assignment, gender orientation, hormonal treatment, genital surgery, and consequent psychosocial implications. Due to the overlapping clinical and biochemical parameters in different subsets of DSD, only a preliminary etiological diagnosis can be made in some cases. Genetic studies with long-term follow-up are required for an accurate diagnosis.
authors.affiliation: Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Chauhan
authors.initials: C
authors.lastname: Vasundhera
authors.affiliation: Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Viveka P
authors.initials: VP
authors.lastname: Jyotsna
authors.affiliation: Department of Radiology, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Devasenathipathy
authors.initials: D
authors.lastname: Kandasamy
authors.affiliation: Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Nandita
authors.initials: N
authors.lastname: Gupta
keywords: 46 XY disorders of sexual development; ambiguous genitalia; disorder of sexual differentiation