hrp0084p1-62 | DSD | ESPE2015

Prediction of Germ Cell Cancer Occurrence in Postpubertal Individuals with Androgen Insensitivity Based on Pathological Findings and Cancer Predisposition SNPs

Cools Martine , Wolffenbuttel Katja P , Kaprova Jana , Mendonca Berenice B , Drop Sten LS , Hersmus Remko , Stoop Hans , Gillis Ad JM , Costa Elaine MF , Domenice Soraiah , Wunsch Lutsz , Quigley Charmian , Arlt Wiebke , T'Sjoen Guy , Looijenga Leendert HJ

Background: Gonadectomy is generally postponed until early adulthood in complete androgen insensitivity syndrome (CAIS) and close surveillance of gonads in situ proposed in males with partial AIS (PAIS). Delaying gonadectomy further is controversial given the lack of data regarding germ cell cancer (GCC) development in adulthood and the absence of biomarkers for noninvasive GCC screening.Aims and objectives: To study the prevalence of invasive G...

hrp0094p1-48 | Sex Endocrinology and Gonads A | ESPE2021

Gonadal Outcome in 17beta-HSD deficiency and 5alpha-reductase deficiency

Boogers Lidewij S , Bruggenwirth Hennie T , van Bever Yolande , Hersmus Remko , Bryce Jilian , Ahmed S Faisal , Lucas-Herald Angela K , Baronio Federico , Cools Martine , Ellaithi Mona , Globa Evgenia , Guran Tulay , Tosun Busra Gurpinar , Hiort Olaf , Holterhus Paul-Martin , McElreavey Ken , Niedziela Marek , Stancampiano Marianna Rita , Wolffenbuttel Katja P , Oosterhuis J Wolter , Looijenga Leendert HJ , Hannema Sabine E ,

Introduction: 5α-reductase type 2 deficiency (5α--RD) and 17β-HSD type 3 deficiency (17β-HSDD) are rare differences/disorders of sex development (DSD) in which impairment of steroidogenic enzymes causes undervirilisation in patients with a 46,XY genotype. We aim to enlarge the limited knowledge on long-term gonadal function and gonadal pathology in these conditions.Methods: Data on phenotype, laborato...