TY - JOUR
T1 - Management of gonads in adults with androgen insensitivity
T2 - An international survey
AU - Tack, Lloyd J.W.
AU - Maris, Ellen
AU - Looijenga, Leendert H.J.
AU - Hannema, Sabine E.
AU - Audi, Laura
AU - Köhler, Birgit
AU - Holterhus, Paul Martin
AU - Riedl, Stefan
AU - Wisniewski, Amy
AU - Flück, Christa E.
AU - Davies, Justin H.
AU - T'Sjoen, Guy
AU - Lucas-Herald, Angela K.
AU - Evliyaoglu, Olcay
AU - Krone, Nils
AU - Iotova, Violeta
AU - Marginean, Otilia
AU - Balsamo, Antonio
AU - Verkauskas, Gilvydas
AU - Weintrob, Naomi
AU - Ellaithi, Mona
AU - Nordenström, Anna
AU - Verrijn Stuart, Annemarie
AU - Kluivers, Kirsten B.
AU - Wolffenbuttel, Katja P.
AU - Ahmed, S. Faisal
AU - Cools, Martine
PY - 2019/1/1
Y1 - 2019/1/1
N2 - Background: Complete and partial androgen insensitivity syndrome (CAIS, PAIS) are associated with an increased risk of gonadal germ cell cancer (GGCC). Recent guidelines recommend gonadectomy in women with CAIS in late adolescence. Nevertheless, many adult women prefer to retain their gonads. Aims: This study aims to explore attitudes towards gonadectomy in AIS in centres around the world, estimate the proportion of adults with retained gonads and/or who developed GGCC, and explore reasons for declining gonadectomy. Methods: A survey was performed among health care professionals who use the International DSD Registry (I-DSD). Results: Data were provided from 22 centres in 16 countries on 166 women (CAIS) and 26 men (PAIS). In CAIS, gonadectomy was recommended in early adulthood in 67% of centres; 19/166 (11.4%) women refused gonadectomy. Among 142 women who had gonadectomy, evidence of germ cell neoplasm in situ (GCNIS), the precursor of GGCC, was reported in 2 (1.4%) out of 8 from whom pathology results were formally provided. Nine out of 26 men with PAIS (34.6%) had retained gonads; 11% of centres recommended routine gonadectomy in PAIS. Conclusion: Although development of GGCC seems rare, gonadectomy after puberty is broadly recommended in CAIS; in PAIS this is more variable. Overall, our data reflect the need for evidence-based guidelines regarding prophylactic gonadectomy in AIS.
AB - Background: Complete and partial androgen insensitivity syndrome (CAIS, PAIS) are associated with an increased risk of gonadal germ cell cancer (GGCC). Recent guidelines recommend gonadectomy in women with CAIS in late adolescence. Nevertheless, many adult women prefer to retain their gonads. Aims: This study aims to explore attitudes towards gonadectomy in AIS in centres around the world, estimate the proportion of adults with retained gonads and/or who developed GGCC, and explore reasons for declining gonadectomy. Methods: A survey was performed among health care professionals who use the International DSD Registry (I-DSD). Results: Data were provided from 22 centres in 16 countries on 166 women (CAIS) and 26 men (PAIS). In CAIS, gonadectomy was recommended in early adulthood in 67% of centres; 19/166 (11.4%) women refused gonadectomy. Among 142 women who had gonadectomy, evidence of germ cell neoplasm in situ (GCNIS), the precursor of GGCC, was reported in 2 (1.4%) out of 8 from whom pathology results were formally provided. Nine out of 26 men with PAIS (34.6%) had retained gonads; 11% of centres recommended routine gonadectomy in PAIS. Conclusion: Although development of GGCC seems rare, gonadectomy after puberty is broadly recommended in CAIS; in PAIS this is more variable. Overall, our data reflect the need for evidence-based guidelines regarding prophylactic gonadectomy in AIS.
KW - Complete androgen insensitivity syndrome
KW - DSD management
KW - Disorders of Sex Development (DSD)
KW - Germ cell cancer
KW - International DSD Registry
KW - Partial androgen insensitivity syndrome
UR - http://www.scopus.com/inward/record.url?scp=85055458564&partnerID=8YFLogxK
U2 - https://doi.org/10.1159/000493645
DO - https://doi.org/10.1159/000493645
M3 - Review article
C2 - 30336477
SN - 1663-2818
VL - 90
SP - 236
EP - 246
JO - Hormone Research in Paediatrics
JF - Hormone Research in Paediatrics
IS - 4
ER -