Disorders of sex development (DSD) encompass a group of congenital conditions associated with atypical development of internal and external genital structures.
Affected individuals often present at birth due to ambiguity of the external genitalia. Others may present with postnatal virilisation, delayed/absent puberty, primary amenorrhoea or infertility.
Adolescents may typically present with a suspected DSD in three ways
Diagnosis of a DSD in adolescence requires initial rapport building with both the young person and family and involvement of members of the multidisciplinary team including paediatric endocrinologist, paediatric surgeon/gynaecologist, clinical psychologist/psychiatrist as needed. Discussion with families and young people need to occur on multiple occasions to allow the MDT and the family to develop a shared understanding of investigations, results, diagnosis, treatments and the value of ongoing psychological support.
Physical examination is essential to define external genital anatomy and presence/absence of gonads. Delineation of internal genitalia is best done either radiologically (ultrasound and/or MRI) or under anaesthesia at the time of laparoscopy and gonadal biopsy. Investigations may include karyotype (or SNP array), endocrine testing both baseline and dynamic, antimullerian hormone, ultrasound/MRI and genetic studies. Exploratory laparoscopy and gonadal biopsy may be needed to confirm internal anatomy and determine gonadal status/presence of gonadal malignancy.
Management issues include pubertal induction and longer-term hormone replacement therapy, gonadectomy and possible gonadal malignancy. Decisions regarding gonadectomy should include members of the MDT including Clinical Ethics if available with recommendations discussed with the young person and family. Discussion regarding future fertility options requires sensitivity. Psychological support and transition to appropriate adult services are essential to ensure good long-term outcomes.