ESPE Abstracts (2018) 89 P-P1-232

Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1

Gonadectomy for Adults with DSD Conditions in the International Disorders of Sex Development Registry

Angela K Lucas-Heralda, Andreas Kyriakoua, Jillian Brycea, Martina Rodiea, Carlo Acerinib, Wiebke Arltc, Antonio Balsamod, Federico Baronicoe, Silvano Bertellonif, Antonia Brookeg, Hedi Claahsen van der Grintenh, Martine Coolsi, Feyza Darendelilerj, Justin H Daviesk,l, An Deslooverei, Mona Ellaithim, Simona Ficaa,d, Aneta Gawliko, Tulay Guranp, Sabine Hannemaq,r, Olaf Hiorts, Paul-Martin Holterhust, Violeta Iotovau, Farida Jennanev, Katherine Lachlank,w, Dejun Lix, Lidka Lisay, Inas Mazenz, Wilchelm Mladenovu, Klaus Mohnikeaa, Lavinia Nedelean, Marek Niedzielabb, Anna Nordenstromcc, Sukran Poyrazogluj, Rodolfo Reydd, Rieko Tadokoro-Cuccarob, Naomi Weintrobee,ff & Syed Faisal Ahmeda


aDevelopmental Endocrinology Research Group, University of Glasgow, Glasgow, UK; bDepartment of Paediatrics, University of Cambridge, Cambridge, UK; cInstitute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK; dS. Orsola-Malpighi University Hospital, Pediatric Unit, Center for Rare Endocrine Diseases (CARENDO BO), Bologna, Italy; eS.Orsola-Malpighi University Hospital, Pediatric Unit, Center for Rare Endocrine Diseases (CARENDO BO), Bologna, Italy; fPediatric and Adolescent Endocrinology, University Hospital Pisa (S.B.), Pisa, Italy; gMacleod Diabetes and Endocrine Centre, Royal Devon and Exeter Foundation Trust, Exeter, UK; hRadboudumc Amalia Children’s Hospital, Nijmegen, Netherlands; iDepartment of Pediatric Endocrinology, Ghent University Hospital, Ghent University, Ghent, Belgium; jIstanbul Faculty of Medicine, Pediatric Endocrinology Unit, Istanbul, Turkey; kHuman Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK; lDepartment of Paediatric Endocrinology, Southampton Children’s Hospital, Southampton, UK; mFaculty of Medical laboratory Sciences, Al-Neelain University, Khartoum, Sudan; nDepartment of Endocrinology, Carol Davila University of Medicine, Bucharest, Romania; oMedical University of Silesia, School of Medicine, Katowice, Poland; pMarmara University, Marmara, Turkey; qDepartment of Pediatric Endocrinology, Sophia Children’s Hospital, Erasmus Medical Centre, Rotterdam, Netherlands; rDepartment of Pediatrics, Leiden University Medical Centre, Leiden, Netherlands; sDivision of Paediatric Endocrinology and Diabetes, Department of Paediatrics, University of Luebeck, Luebeck, Germany; tChristian-Albrechts-University of Kiel and University Hospital of Schleswig-Holstein, Kiel, Germany; uMedical University of Varna, Varna, Bulgaria; vUnité d’Endocrinologie/Diabétologie et Gynécologie de l’Enfant et de l’Adolescent, Hôpital d’Enfants, Casablanca, Morocco; wWessex Clinical Genetics Service, University Hospitals Southampton, Southampton, UK; xCentre for Prenatal Diagnosis, The First Hospital of Jilin University, Jilin, China; yUniversity Hospital Motol, Prague, Czech Republic; zClinical Genetic Department, National Research Center, Cairo, Egypt; aaOtto-von-Guericke University, Magdeburg, Germany; bbDepartment of Pediatric Endocrinology and Rheumatology, Poznan University of Medical Sciences, Poznan, Poland; ccDepartment of Women’s and Children’s Health, Karolinska Institutet, Stockholm, Sweden; ddHospital de Niños R. Gutiérrez, Buenos Aires, Argentina; eeSackler School of Medicine, Tel Aviv University, Tel Aviv, Israel; ffDana Dwek Children’s Hospital, Tel Aviv Medical Center, Tel Aviv, Israel

Introduction: Depending on the underlying diagnosis, Disorders of Sex Development (DSD) can be associated with an increased risk of germ cell cancers. To date, however, knowledge regarding the indications and timing of gonadectomy is lacking.

Methods: The International-DSD (I-DSD) Registry was interrogated for anonymised information regarding the diagnosis, karyotype, sex of rearing and timing of gonadectomy, if undertaken, of all individuals of any karyotype who were over the age of 16 years at the time of search and who had a disorder that may lead to long-term hypogonadism namely a disorder of androgen action; androgen synthesis; gonadal development or a non-specific disorder of undermasculinisation (NSDUM).

Results: At the time of search, 2,141 cases were accessible on the I-DSD Registry. A total of 614 (29%) met the above study inclusion criteria. Data regarding gonadectomy were available in 520 (85%). Of these, 158 (30%) (median age 24 yrs (range 17, 72)) were registered as male while 362 (70%) were female (median age 28 yrs (16, 90)). Gonadectomy was performed in 315 (61%) cases. Females had gonadectomy at a later median age of 14 yrs (0.3, 68) compared to median age of 5 yrs (0.1, 54) in males (P=0.047). Table 1 demonstrates the frequency and median age at time of gonadectomy for each condition. Gonadectomy was performed later in both males (median 15 vs 4 yrs, P=0.0004) and females (median 17 vs 8 yrs, P<0.0001) after the publication of the 2006 consensus statement on the management of DSD conditions.

Table 1
Females with gonadectomy (%)Age at gonadectomy females (yrs, range)Males with gonadectomy (%)Age at gonadectomy males (yrs, range)
Complete androgen insensitivity synd123/154 (80)15 (0.3,68)0/0 (0)
Complete gonadal dysgenesis55/69 (80)15 (0.3,21)2/7 (29)5 (4,5)
NSDUM6/6 (100)14 (3,26)3/22 (14)9 (6,10)
Partial androgen insensitivity synd26/29 (90)12 (1,24)3/41 (7)32 (10,54)
Partial gonadal dysgenesis23/26 (88)2 (0.3,21)15/51 (29)1 (0.1,13)
17β hydroxysteroid dehydrogenase def25/25 (100)11 (0.5,21)0/1 (0)
5α reductase def11/14 (79)6 (2,17)0/5 (0)
Other16/39 (41)16 (1,21)7/31 (23)17 (10,26)

Conclusions: Not only does the rate of gonadectomy vary from one diagnosis to another, it also seems that gonadectomy is performed at a later age than previously. A substantial proportion of young men and women with a range of DSD continue to retain gonads into adulthood.

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