ISSN 1662-4009 (online)

ESPE Yearbook of Paediatric Endocrinology (2020) 17 6.10 | DOI: 10.1530/ey.17.6.10


To read the full abstract: J Clin Endocrinol Metab. 2020, Mar 1; 105. doi: https://academic.oup.com/jcem/article-abstract/105/3/e222/5609091?redirectedFrom=fulltext

This cross-sectional study collected measures of genital development from 181 premature neonates, 378 term neonates, 308 babies up to 24 months, and in 111 babies with atypical genitalia from eight European countries within the European Cooperation in Science and Technology (COST) Action BM1303. The authors developed a clinical tool to describe external genitalia, validated this new External Genitalia Score (EGS) and provide reference values for babies up to two years of age. The EGS comprises five anatomic measurements: (1) refined categories for labioscrotal fusion; (2) position of the urethral meatus; position of the right (3) and left (4) gonads; and (5) size of the genital tubercle. Each five feature is scored, and then summed to give a final EGS ranging from 0 (female appearance) to 12 (male). Babies with EGS beyond the 10th and 90th percentiles (i.e. EGS > 0 and ≤ 10.5 for term-born infants) should receive assessment by a specialist DSD team.

The anogenital distance, the Prader Score, and the External Masculinization Score (EMS) are all well-established methods to describe the external genitalia, but they exhibit limitations. The Prader Score was originally designed to characterize the genital anomalies in adrenogenital syndromes, while the EMS is describes undervirilized male external genitalia. The new EGS adapted the EMS and enables a standardized measure that is importantly described in gender neutral words.

The EGS cannot replace detailed clinical evaluation, as it does not incorporate other atypical genital features or the internal sex organs. However, it is extremely useful for pediatricians and general practitioners, as it represents a simple and low-cost method to identify infants with atypical genitalia of both sexes who will require specialist care. It introduces a standardized assessment for the whole spectrum from female to male and thus facilitates research in DSD across multiple centers.

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