title: Disorders of sexual differentiation: II. Diagnosis and treatment.
abstract: OBJECTIVE
  To provide a review and summary of recent advances in the diagnosis and management of disorder(s) of sexual differentiation (DSD), an area that has developed over recent years with implications for the management of children with DSD; and to assess the refinements in the surgical techniques used for genital reconstruction.
  
  
  METHODS
  Recent publications (in the previous 10 years) were identified using PubMed, as were relevant previous studies, using following keywords; 'diagnosis and management', 'ambiguous genitalia', 'intersex', 'disorders of sexual differentiation', 'genitogram', 'endocrine assessment', 'gender assignment', 'genitoplasty', and 'urogenital sinus'. The findings were reviewed.
  
  
  RESULTS
  Arbitrary criteria have been developed to select patients likely to have DSD. Unnecessary tests, especially those that require anaesthesia or are associated with radiation exposure, should be limited to situations where a specific question needs to be answered. Laparoscopy is an important diagnostic tool in selected patients. The routine use of multidisciplinary diagnostic and expert surgical teams has become standard. Full disclosure of different therapeutic approaches and their timing is recommended.
  
  
  CONCLUSIONS
  Diagnostic tests should be tailored according to the available information. Parents and/or patients should be made aware of the paucity of well-designed studies, as these conditions are rare. Unnecessary irreversible surgery should be postponed until a multidisciplinary experienced team, with the parents' and or patients' approval, can make a well-judged decision.
authors.affiliation: McGill University, Montreal Children's Hospital, Quebec, Canada.
authors.forename: Mohamed
authors.initials: M
authors.lastname: El-Sherbiny
keywords: ASTRA, anterior sagittal transrectal approach; Ambiguous genitalia; CAH, congenital adrenal hyperplasia; CAIS, complete androgen–insensitivity syndrome; DSD, disorder(s) of sexual differentiation; Diagnosis; Endocrine assessment; GD, gonadal dysgenesis; Gender assignment; Genitogram; Genitoplasty; Intersex; MIS, Müllerian-inhibiting substance; Management; PAIS, partial androgen insensitivity; TUM, total UGS mobilisation; UGS, urogenital sinus; Urogenital sinus