Disorders of sex development (DSD, previously termed intersex disorders) embrace a broad range of pathologies encompassing the undervirilised male, the virilised female, true hermaphroditism (defined by the presence of ovotestes) and sex reversal (e.g. 46XX male). For those infants born with genital abnormalities that make immediate gender assignment not possible, there is an urgent need for specialist input to achieve a diagnosis and develop a management plan. The DSD team will usually include a paediatric endocrinologist, paediatric surgeon/ urologist, a psychologist and endocrine nurse specialist, supported by genetics, social services, on occasions medical ethics and for transfer in the adolescent years adult endocrinology and gynaecology.
Management starts with the initial contact with the family by a member of the DSD team. An assessment of the genital appearance and whether gonadal tissue is present is crucial, along with an explanation of how external and internal structures are developed. Results from the first investigations (karyotyping with X and Y probes, abdomino-pelvic imaging, measurement of 17αhydroxyprogesterone, androgens, gonadotrophins and electrolytes) should be available within 48 hours to inform management. Stimulated hormone tests (e.g. ACTH or HcG), molecular genetic analysis and biopsy of gonadal material will all take longer. It is therefore essential to lay out a realistic time-course for making a diagnosis, assigning gender and planning surgery if this is appropriate.
Optimal management, as defined by the recent Intersex Consensus Group (Arch Dis Child 2006:91;554), should include; avoidance of gender assignment before expert evaluation in the newborn period, evaluation and management by an experienced DSD team, gender assignment in all individuals, open discussion with the family who should be encouraged to be involved in decision making, and patient and family concerns respected and addressed in strict confidence.
06 - 07 Nov 2006
Society for Endocrinology