ESPE2018 Poster Presentations Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 (35 abstracts)
The ‘ExternalGenitaliaScore’ to Describe External Genitalia in Male and Female Infants: A Europeanmulticenter Validation Study
Saskia van der Straaten a , Alexander Springer b , Doris Hebenstreit c , Aleksandra Zezic d , Ursula Tonnhofer b , Aneta Gawlik e , Malgorzata Baumert f , Kamila Szeliga e , Sara Debulpaep g , An Desloovere g , Lloyd Tack g , Koen Smets d , Malgorzata Wasniewska h , Domenico Corica h , Mariarosa Calafiore Calafiore h , Marie Lindhardt Ljubicic i, , Alexander Siegfried Busch k, , Anders Juul i, , Anna Nordenström m , Jon Sigurdsson m , Christa E Flück n , Tanja Haamberg n , Stefanie Graf n , Sabine E Hannema o, , Katja P Wolffenbuttel q , S Faisal Ahmed r & Martine Cools a
aUniversity Hospital Ghent, Department of Pediatrics, Division of Pediatric Endocrinology, Ghent, Belgium; bMedical University of Vienna, Department of Pediatric Surgery, Vienna, Austria; cDepartment of Urology, Medical University Innsbruck, Innsbruck, Austria, Vienna, Austria; dUniversity Hospital Ghent, Department of Neonatology, Ghent, Belgium; eMedical University of Silesia, Department of Pediatrics and Pediatric Endocrinology, School of Medicine in Katowice, Katowice, Poland; fMedical University of Silesia, Department of Neonatology, School of Medicine in Katowice, Katowice, Poland; gUniversity Hospital Ghent, Department of Pediatrics, Ghent, Belgium; hUniversity of Messina, Department of Human Pathology of Adulthood and Childhood, Messina, Italy; iDepartment of Growth and Reproduction, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark; jInternational Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark; kCopenhagen University Hospital, Department of Growth and Reproduction at The Juliane Marie Centre, Rigshospitalet, Copenhagen, Denmark; lInternational Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark; mDepartment of Women’s and Children’s Health Karolinska Institutet and Department of Pediatric Endocrinology, Karolinska University Hospital Stockholm, Stockholm, Sweden; nUniversity of Bern, Department of Pediatrics, Inselspital, Division of Pediatric Endocrinology and Diabetology, Bern, Switzerland; oErasmus MC -- Sophia Children’s Hospital, Department of Pediatric Endocrinology, Rotterdam, The Netherlands; pLeiden University Medical Centre, Department of Paediatrics, Leiden, The Netherlands; qErasmus MC -- Sophia Children’s Hospital, Department of Pediatric Urology, Rotterdam, The Netherlands; rDevelopmental Endocrinology Research Group, University of Glasgow, Royal Hospital for Children, Glasgow, UK
Background: The ‘External Masculinization Score’ (EMS) is an objective method of scoring undervirilized genitalia in infants but may require further adaptation to capture the appearance of the genitalia more comprehensively across the phenotypic spectrum.
Objective: To develop and validate a non-binary, standardized score that describes the range of appearance of external genitalia.
Method: The external genitalia score (EGS), designed by WG1 of COST Action BM1303 assesses the same anatomical landmarks (urethral meatus, location of gonads, size of genital tubercle, labioscrotal fusion) as EMS, using a gradual scale from female to male (range 0–12), and a vocabulary suitable for both sexes. Intra- and inter-observer variability were studied in infants with typical (n=35) and atypical (n=74) genitalia. In a subsequent multicenter validation study, cross-sectional data were obtained in 378 full-term, 163 preterm babies and 308 infants up to 24 months with equal sex distributions, and in 74 babies with atypical genitalia (46,XY: n=69; 46,XX: n=5). EGS was compared to Prader Score (PS) and EMS. Following anogenital distances (AGD) were measured: AGDas: anus to posterior base of scrotum, AGDap: to anterior base of penis, AGDaf: to fourchette, AGDac: to anterior base of clitoris.
Results: Inter-observer reproducibility of EGS in typical and atypical genitalia is excellent, being 1 and 0.98 respectively (95%RI 0.97–0.99). Median (10th–90th centile) EGS in male premature (>33 weeks) and full-term babies up to 24 months is 12 (11–12); in preterm males <33 weeks, it is 11 (10.5–12). Median EGS in female premature and full-term babies up to 24 months is 0 (0–0). In male and female infants with variant genital development, median EGS is 9.7 (6.5–11.9), and median EMS is 9 (4.1–12). In babies with typical genitalia, median (10th–90thcentile; SD) AGDas/ap in males is 0.49 (0.39–0.61; 0.09), in females AGDaf/ac is 0.40 (0.31–0.48; 0.07). In babies who have 46,XY DSD, median (10th–90th centile; SD) AGDas/ap is 0.43 (0.28–0.57; 0.11). AGDas/ap in males with typical genitalia is significantly different from AGDas/ap in 46,XY DSD (t=1.9, P=0.05). In babies with 46,XY DSD, AGD-ratio correlates positively with EGS (Spearman’s r=0.33, P<0.05) and with EMS (r=0.42, P<0.05).
Conclusion: EGS provides an alternative to EMS as a non-binary and reproducible tool to describe the range of external genitalia in premature and term infants up to 24 months. The AGD-ratio, a measure of prenatal androgen exposure, correlates with EGS in male infants.
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