Women with a 46XY karyotype comprise a heterogeneous group who differ not only in their diagnostic category and anatomy but also in their journey from paediatric to adult services. Transition care should be an individualised process covering past experiences, current medical and surgical needs and future prospects is required for optimal wellbeing. A multidisciplinary team is helpful in providing this care and liaison with supports groups (for instance the AISSG) is essential in order to keep informed of current issues in this area.
In a prospective audit of the clinical indications for referral and on-going clinical needs for girls aged 1220 years seen in a specialist DSD clinic over a 6-month period we used a simple traffic light classification: green for low, amber for moderate, and red for high. Fifty girls were seen during the study period and all were referred from paediatric services. Patients may have had one or more indication(s) for referral to the adult clinic and these were: urology/gynaecology (70%), endocrinology (42%) and psychology (14%). The most common indication for on-going clinical input was psychology, with 46% of patients requiring monitoring and intervention. Of the 14 patients (28%) classified red suggesting they had an urgent clinical need, psychology was a major factor in all but one patient.
Despite progress in the understanding the genetic basis of human sexual development a specific molecular diagnosis is identified in only in a small percentage of cases of DSD presenting to an adults DSD clinic. Many previous diagnoses made on clinical grounds are found to be inaccurate. This is especially true in older patients who have had their diagnosis many years previously. It is well recognised that a delayed recognition of the condition can lead to greater difficulties in accepting the diagnosis. Access to specialist laboratory services is required to make an accurate diagnosis after gonadectomy.