ESPE Abstracts (2019) 92 RFC10.1

Contemporary Surgical Approach in CAH 46XX – Results from the I-DSD/I-CAH Registries

Doris Hebenstreit1, Faisal Ahmed, on behalf of the contributing centres within the I-DSD registry and I-CAH registry2, Alexander Springer3, Christoph Krall4, Nils Krone5, Niels Birkebaek6, Tatjana Milenkovic7, Birgit Koehler8, Christa Flueck9, Ruth Krone10, Antonio Balsamo11, Rodolfo Rey12, Carlo Acerini13, Alya Guven14, Tulay Guran15, Feyza Darendeliler16, Sabah Alvi17, Marta Korbonits18, Walter Bonfig19, Eduardo Correa Costa20, Richard Ross21, Violeta Iotova22, Daniel Konrad23,24, Jillian Bryce2, Hedi Claahsen van der Grinten25, Liat de Vries26


1Department of Urology, Hanusch Krankenhaus, Vienna, Austria. 2Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, Glasgow, United Kingdom. 3Department of Pediatric Surgery, Medical University Vienna, Vienna, Austria. 4Section of Medical Statistics, Medical University Vienna, Vienna, Austria. 5Department of Oncology&Metabolism, University of Sheffield, Sheffield, United Kingdom. 6Department of Pediatrics, Aarhus University Hospital, Aarhus N, Denmark. 7Department of Endocrinology, Mother and Child Health Care Institute of Serbia "Dr Vukan Cupic", Belgrade, Serbia. 8Klinik für Padiatrische Endokrinologie und Diabetologie, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin, Germany. 9Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, University Hospital Inselspital, University of Bern, 3010 Bern, Switzerland; Department of BioMedical Research, University Hospital Inselspital, University of Bern, Bern, Switzerland. 10Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, United Kingdom. 11Department of Medical and Surgical Sciences, Pediatric Unit, S.Orsola-Malpighi University Hospital, Bologna,, Italy. 12Centro de Investigaciones Endocrinológicas "Dr. César Bergadá" (CEDIE) CONICET – FEI – División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, Buenos Aires, Argentina. 13Department of Paediatrics, University of Cambridge, Cambridge, United Kingdom. 14Istanbul Medeniyet University, Goztepe Education and Research Hospital, Pediatric Endocrinology Clinic, Istanbul, Turkey. 15Marmara University, Department of Pediatric Endocrinology and Diabetes, Pendik, Istanbul, Turkey. 16Istanbul Faculty of Medicine, Department of Pediatrics, Pediatric Endocrinology Unit, Istanbul University, Istanbul,, Turkey. 17Paediatric Endocrinology, Leeds Children's Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom. 18Department of Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University of London, London, United Kingdom. 19Department of Pediatrics, Technical University München, Munich, Germany. 20Pediatric Surgery and Urology Department, Porto Alegre Clinics Hospital, Porto Alegre, Brazil. 21University of Sheffield, Sheffield, United Kingdom. 22Department of Pediatrics, Medical University-Varna, Varna, Bulgaria. 23Division of Pediatric Endocrinology and Diabetology, University Children's Hospital, Zurich, Switzerland. 24Children's Research Center, University Children's Hospital, Zurich, Switzerland. 25Department of Pediatric Endocrinology, Radoud University Medical centre, Nijmegen, Netherlands. 26The Jesse and Sara Lea Shafer Institute of Endocrinology and Diabetes, Schneider Children's Medical Center of Israel, Petah Tikva, Israel


Introduction: Congenital adrenal hyperplasia (CAH) is the most common genetic condition in the spectrum of differences of sex development (DSD). Surgery in DSD is a controversial topic and there is no consensus if to perform surgery, how to perform surgery, and when to perform surgery. The current study was designed to evaluate the current practice in CAH related surgical practice in girls.

Patients and Methods: All cases that had been classified in the I-DSD and I-CAH registries as 46XX CAH born prior to 2017 were identified (555 participants in 41 centres, born 1953-2016). Centres were approached to obtain additional information in each eligible case on factors that influenced the option of performing surgery, timing and type of surgery. 330 participants were suitable for analysis.

Results: 208 (63%) presented within the first month of life; 306 (93%) had 21-hydroxylase deficiency. 326 (99%) cases were raised as girls after birth. At latest assessment, 329 (99.6%) cases had a female sex assignment. Genital surgery has been performed in 251 (76%). Clitoral surgery been performed in 231 (92%), vaginal surgery in 204 (81%) and a combination of clitoral and vaginal surgery had been performed in 186 (74%). Of the 251 who had surgery, 18 (7%) had vaginal but no clitoral surgery whilst 42 (17%) had clitoral but no vaginal surgery. Mean age at first surgery was 2.5 years (0-15), with clitoral surgery and vaginal surgery at 2.6 years (range) and 3.2 years (range), respectively. In a logistic regression model it could be shown that there was a negative trend for surgery over time. Moreover, there was a significant trend towards surgery before 24 months of life over time. However, there were significant geographic differences in the probability/incidence of genital surgery: Europe 64%, Asia 97%, South America 89%. The Chicago Consensus Statement on DSD (comparison of data before and after 2006) did not have any significant influence on the timing or probability of surgery. Last but not least, age at first assessment showed to have a mild negative but non-significant effect on the probability of surgery.

Discussion: This is the largest international study to analyse the current surgical approach towards CAH. There are geographic and sociocultural differences. There is a trend towards avoiding/postponing surgery, especially in Europe. Moreover, there is a significant trend towards surgery before 24 months of life.

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