Background: Individuals with androgen insensitivity syndrome (AIS) have an increased risk for developing a germ cell cancer (GCC). The risk is low during childhood; therefore, gonads are commonly preserved until after puberty. Little is known about GCC development in AIS during adulthood. This question is particularly relevant as many adult AIS women decline gonadectomy.
Objective and hypotheses: To gain insight in attitudes towards gonadectomy in various DSD centers around the world and estimate the proportion of AIS adults who have retained gonads, reasons for declining gonadectomy and frequency of GCC occurrence.
Method: International survey among health care professionals of DSD centers, retrieved through the I-DSD Registry.
Results: Response rate (20/40 centers 50%) was low despite regular email invitations; providing data on 200 patients (167 CAIS and 33 PAIS). In CAIS, 16/20 centers routinely propose gonadectomy before (4/20) or at the end (12/20) of puberty. 17/167 (10.1%) of CAIS patients have retained gonads, either because gonadectomy was not proposed, or because patients refused this procedure. Reasons for declining are being anxious about surgery and its complications and worries about long-term effects of HRT, timing of surgery and not having processed the diagnosis. Decision and timing of gonadectomy in PAIS is highly variable; overall, only 24.2% of PAIS males in this survey still have one or both gonads. (Invasive) GCC were not reported by any of the respondents.
Conclusion: Differences in attitudes towards gonadectomy exist in centers caring for AIS patients. Patients are concerned about surgery and HRT, but generally accept gonadectomy at the end of puberty. The occurrence of an invasive GCC seems rare in AIS adults, questioning the necessity of routine gonadectomy in this population. Gaining further knowledge about eventual progression of (pre)neoplastic changes towards invasiveness in AIS specifically will help to improve counseling and patient-oriented management.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology