The external genitalia score (EGS): a European multicenter validation study
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CONTEXT: Standardized description of external genitalia is needed in the assessment of children with atypical genitalia. OBJECTIVES: To validate the External Genitalia Score (EGS), to present reference values for preterm and term babies up to 24 months and correlate obtained scores with anogenital distances (AGDs). DESIGN, SETTING: A European multicenter (n = 8) validation study was conducted from July 2016 to July 2018. PATIENTS AND METHODS: EGS is based on the external masculinization score but uses a gradual scale from female to male (range, 0-12) and terminology appropriate for both sexes. The reliability of EGS and AGDs was determined by the interclass correlation coefficient (ICC). Cross-sectional data were obtained in 686 term babies (0-24 months) and 181 preterm babies, and 111 babies with atypical genitalia. RESULTS: The ICC of EGS in typical and atypical genitalia is excellent and good, respectively. Median EGS (10th to 90th centile) in males < 28 weeks gestation is 10 (8.6-11.5); in males 28-32 weeks 11.5 (9.2-12); in males 33-36 weeks 11.5 (10.5-12) and in full-term males 12 (10.5-12). In all female babies, EGS is 0 (0-0). The mean (SD) lower/upper AGD ratio (AGDl/u) is 0.45 (0.1), with significant difference between AGDl/u in males 0.49 (0.1) and females 0.39 (0.1) and intermediate values in differences of sex development (DSDs) 0.43 (0.1). The AGDl/u correlates with EGS in males with typical genitalia and in atypical genitalia. CONCLUSIONS: EGS is a reliable and valid tool to describe external genitalia in premature and term babies up to 24 months. EGS correlates with AGDl/u in males. It facilitates standardized assessment, clinical decision-making and multicenter research.
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Severely increased prenatal adrenal androgen production leads to virilization of the female external genitalia, including variable degrees of clitoral enlargement and labial fusion.
“Whereas gonadal development is normal, severely increased prenatal adrenal androgen production leads to virilization of the female external genitalia (30), including variable degrees of clitoral enlargement and labial fusion.”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [30]
The Introduction (page not available) describes progressive external-genital virilization in children with congenital adrenal hyperplasia, from mild clitoromegaly to a male-appearing phenotype. It also notes genital differences in female infants with androgen excess. The cited passages do not specifically state that severely increased prenatal adrenal androgen production causes this virilization or link it to degrees of labial fusion. (LLM, conf=0.82)
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- Authors
- van der Straaten, S., Springer, A., Zecic, A., Hebenstreit, D., Tonnhofer, U., Gawlik, A., Baumert, M., Szeliga, K., Debulpaep, S., Desloovere, A., Tack, L., Smets, K., Wasniewska, M., Corica, D., Calafiore, M., Ljubicic, M. L., Busch, A. S., Juul, A., Nordenström, A., Sigurdsson, J., Flück, C. E., Haamberg, T., Graf, S., Hannema, S. E., Wolffenbuttel, K. P., Hiort, O., Ahmed, S. F., & Cools, M.
- Affiliations
- Ghent University Hospital, Department of Pediatrics, Division of Pediatric Endocrinology and Ghent University, Department of Internal Medicine and Pediatrics, Ghent, Belgium
- Medical University of Vienna (AT)
- Ghent University Hospital, Department of Neonatology, Ghent, Belgium
- Innsbruck Medical University (AT)
- Medical University of Silesia (PL)
- Medical University of Silesia, Department of Neonatology, Katowice, Poland
- Ghent University Hospital (BE)
- University of Messina (IT)
- Copenhagen University Hospital (DK)
- Karolinska University Hospital (SE)
- University of Bern (CH)
- Leiden University Medical Center (NL)
- Erasmus MC (NL)
- University of Lübeck (DE)
- University of Glasgow (GB)
- Corresponding author
- Cools, Martine
- ORCID
- van der Straaten, Saskia
- Springer, Alexander
- Tonnhofer, Ursula
- Gawlik, Aneta
- Szeliga, Kamila
- Debulpaep, Sara
- Desloovere, An
- Tack, Lloyd
- Wasniewska, Malgorzata
- Corica, Domenico
- Ljubicic, Marie Lindhardt
- Busch, Alexander Siegfried
- Juul, Anders
- Nordenström, Anna
- Flück, Christa E
- Hannema, Sabine E
- Hiort, Olaf
- Ahmed, S Faisal
- Cools, Martine
- Venue
- The Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 2019-10-29
- Volume
- 105
- Issue
- 3
- Pages
- e222-e230
- ISSN
- 0021-972X (ISSN-L)
- 1945-7197
- OpenAlex
- W2982434187
- Cited by
- 135
- References
- 30
- Citations by year
- 2026: 18 · 2025: 21 · 2024: 43 · 2023: 20 · 2022: 13 · 2021: 17 · 2020: 2
- FWCI
- 2.65
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- academic.oup.com/journals/pages/open_access/funder_policies/chorus/standard_publication_model (vor)
- Locations
- The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
- PubMed (publishedVersion)
- Ghent University Academic Bibliography (Ghent University) (publishedVersion)
- Pure Amsterdam UMC (publishedVersion, other-oa)
- ENLIGHTEN (Jurnal Bimbingan dan Konseling Islam) (acceptedVersion, cc-by-sa)
- Research at the University of Copenhagen (University of Copenhagen) (acceptedVersion, other-oa)
- Bern Open Repository and Information System (University of Bern) (submittedVersion, other-oa)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion, other-oa)
- RePub (Erasmus University Rotterdam) (submittedVersion, other-oa)
- Ghent University Academic Bibliography (Ghent University) (submittedVersion)
- Dépôt institutionnel de l'Université libre de Bruxelles (Université Libre de Bruxelles) (submittedVersion)
- Amsterdam UMC (VU Amsterdam) - Institutional Repository (submittedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Open Access CRIS of the University of Bern
- Funders
- European Cooperation in Science and Technology (BM1303)
- Medical University of Silesia (KNW-1–011/N/8/K)
- COPENHAGEN Minipuberty Study (R146-A5644)
- Danish Environmental Protection Agency
- Aase and Ejnar Danielsens Foundation (10-00101874)
- Swiss National Science Foundation (320030-146127)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Health Sciences › Medicine › Urology › Urological Disorders and Treatments
- Health Sciences › Medicine › Surgery › Genital Health and Disease
- Keywords
- ambiguous genitalia, preterm infants, disorders of sex development, reference values, inter-rater reliability
- MeSH terms
- Cross-Sectional Studies, Europe, Female, Genitalia, Female, Genitalia, Male, Gestational Age, Humans, Infant, Newborn, Infant, Premature, Male, Reference Values, Disorders of Sex Development, Reproducibility of Results
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