Applicability of the External Genitalia Score (EGS) in Indian neonates and children up to 2 years of age
-
Pamali Mahasweta Nanda
, Jaivinder Yadav
, Rakesh Kumar
Abstract
Objectives
To generate normative data and validate the recently developed, gender-neutral, External Genitalia Score (EGS) in Indian preterm and term neonates and children up to 2 years of age with normal and atypical genitalia.
Methods
This observational study included 1,040 neonates born between 28 and 42 weeks of gestation and 152 children between 1 and 24 months of age. In addition, 50 children with disorders of sex development (DSD) were also enrolled in the study. The Prader stage/external masculinization score (EMS) (as applicable), anogenital ratio (AGR) and EGS were assessed for all neonates and children with typical and atypical genitalia.
Results
Median EGS values in newborn males with typical genitalia were 9.5 at 28–31 weeks, 10.5 at 32–33 weeks, 11 at 34 weeks and 11.5 in males at 35–42 weeks of gestation. For all females with typical genitalia, the EGS was 0. EMS and EGS showed a positive correlation in males with typical genitalia (r=0.421, p=0.000**) and all children with DSD (r=0.857, p=0.000**). Mean AGR in males and females with typical genitalia and those with DSD were 0.52±0.07, 0.31±0.05 and 0.47±0.13, respectively. EGS correlated with AGR in all males with typical genitalia (r=0.107, p=0.008**), and in all children with DSD (r=0.473, p=0.001**).
Conclusions
The EGS enables accurate, gender-neutral and comprehensive assessment of external genitalia in Indian neonates and children with typical and atypical genitalia/DSD. Evaluation for DSD is recommended in any child with EGS greater than 0 and ≤10th percentile for gestation or age (10.5 in a term neonate).
-
Research ethics: The study was approved by the Institutional Ethics Committee (INT/IEC/SPL-1619 dated 25.10.2021).
-
Informed consent: Written informed consent was taken from parents for all neonates and children included in the study.
-
Author contributions: P.M.N. was primary investigator; P.M.N. and J.Y. were involved in conception of the study and drafting the manuscript; J.Y., D.D., P.K., J.K., H.K. and P.S. were co-investigators, and advisors in study conduct and manuscript revision; D.D., R.K., P.K. were involved in revising the manuscript critically for important intellectual content. All authors have read the manuscript and approved it for final submission. All authors have agreed to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.
-
Competing interests: The authors have no relevant financial or non-financial interests to disclose.
-
Research funding: The authors declare that no funds, grants, or other support were received for the research or during the preparation of this manuscript.
-
Data availability: The raw data can be obtained on request from the corresponding author.
References
1. Hamerton, JL, Canning, N, Ray, M, Smith, S. A cytogenetic survey of 14,069 newborn infants. I. Incidence of chromosome abnormalities. Clin Genet 1975;8:223–43. https://doi.org/10.1111/j.1399-0004.1975.tb01498.x.Suche in Google Scholar
2. Blackless, M, Charuvastra, A, Derryck, A, Fausto-Sterling, A, Lauzanne, K, Lee, E. How sexually dimorphic are we? Review and synthesis. Am J Hum Biol 2000;12:151–66. https://doi.org/10.1002/(sici)1520-6300(200003/04)12:2<151::aid-ajhb1>3.0.co;2-f.10.1002/(SICI)1520-6300(200003/04)12:2<151::AID-AJHB1>3.0.CO;2-FSuche in Google Scholar
3. Prader, A. Genital findings in the female pseudo-hermaphroditism of the congenital adrenogenital syndrome; morphology, frequency, development and heredity of the different genital forms. Helv Paediatr Acta 1954;9:231–48.Suche in Google Scholar
4. Ahmed, SF, Khwaja, O, Hughes, IA. The role of a clinical score in the assessment of ambiguous genitalia. BJU Int 2000;85:120–4. https://doi.org/10.1046/j.1464-410x.2000.00354.x.Suche in Google Scholar
5. van der Straaten, S, Springer, A, Zecic, A, Hebenstreit, D, Tonnhofer, U, Gawlik, A, et al.. The external genitalia score (EGS): a European multicenter validation study. J Clin Endocrinol Metab 2020;105:e222–30. https://doi.org/10.1210/clinem/dgz142.Suche in Google Scholar
6. Nanda, PM, Yadav, J, Dayal, D, Kumar, R, Kumar, P, Kumar, J, et al.. Estimation of reference values for external genitalia parameters in North Indian preterm and term female newborns. Indian J Pediatr 2024;91:548–55. https://doi.org/10.1007/s12098-023-04743-1.Suche in Google Scholar
7. Numsriskulrat, N, Srilanchakon, K, Pronprechatham, C, Pornkunwilai, S, Supornsilchai, V. Sex-specific ranges and ratios for anogenital distance among Thai full-term newborns. BMC Pediatr 2022;22:258. https://doi.org/10.1186/s12887-022-03325-y.Suche in Google Scholar
8. Callegari, C, Everett, S, Ross, M, Brasel, JA. Anogenital ratio: measure of fetal virilization in premature and full-term newborn infants. J Pediatr 1987;111:240–3. https://doi.org/10.1016/s0022-3476(87)80075-6.Suche in Google Scholar
9. Ballard, JL, Khoury, JC, Wedig, K, Wang, L, Eilers-Walsman, BL, Lipp, R. New Ballard score, expanded to include extremely premature infants. J Pediatr 1991;119:417–23. https://doi.org/10.1016/s0022-3476(05)82056-6.Suche in Google Scholar
10. Sathyanarayana, S, Grady, R, Redmon, JB, Ivicek, K, Barrett, E, Janssen, S, et al.. Anogenital distance and penile width measurements in the infant development and the environment study (TIDES): methods and predictors. J Pediatr Urol 2015;11:76.e1–6. https://doi.org/10.1016/j.jpurol.2014.11.018.Suche in Google Scholar
11. Nanda, PM, Yadav, J, Dayal, D, Kumar, R, Kumar, P, Kumar, J, et al.. Estimation of reference values for external genitalia parameters in North Indian preterm and term male newborns. Indian J Pediatr 2024;91:556–63. https://doi.org/10.1007/s12098-023-04703-9.Suche in Google Scholar
12. Ahmed, SF, Achermann, J, Alderson, J, Crouch, NS, Elford, S, Hughes, IA, et al.. Society for Endocrinology UK Guidance on the initial evaluation of a suspected difference or disorder of sex development (Revised 2021). Clin Endocrinol 2021;95:818–40. https://doi.org/10.1111/cen.14528.Suche in Google Scholar PubMed
13. Witchel, SF, Lee, PA. Ambiguous genitalia. In: Sperling, MA, editor. Sperling Pediatric Endocrinology, 5th ed.. Philadelphia: Elsevier; 2021:123–74 pp.10.1016/B978-0-323-62520-3.00006-3Suche in Google Scholar
14. López-Soto, Á, Bueno-González, M, Urbano-Reyes, M, Garví-Morcillo, J, Meseguer-González, JL, Martínez-Uriarte, J, et al.. Stretched penile length at birth: a systematic review. J Pediatr Endocrinol Metab 2021;34:1211–23. https://doi.org/10.1515/jpem-2021-0189.Suche in Google Scholar PubMed
15. Mondal, R, Chatterjee, K, Samanta, M, Hazra, A, Ray, S, Sabui, TK, et al.. Clitoral length and anogenital ratio in Indian newborn girls. Indian Pediatr 2016;53:299–303. https://doi.org/10.1007/s13312-016-0840-1.Suche in Google Scholar PubMed
16. Priskorn, L, Petersen, JH, Jørgensen, N, Kyhl, HB, Andersen, MS, Main, KM, et al.. Anogenital distance as a phenotypic signature through infancy. Pediatr Res 2018;83:573–9. https://doi.org/10.1038/pr.2017.287.Suche in Google Scholar PubMed
17. Jain, VG, Goyal, V, Chowdhary, V, Swarup, N, Singh, RJ, Singal, A, et al.. Anogenital distance is determined during early gestation in humans. Hum Reprod 2018;33:1619–27. https://doi.org/10.1093/humrep/dey265.Suche in Google Scholar PubMed
18. Su, R, Adam, MP, Ramsdell, L, Fechner, PY, Shnorhavorian, M. Can the external masculinization score predict the success of genetic testing in 46,XY DSD? AIMS Genet. 2015;2:163–72. https://doi.org/10.3934/genet.2015.2.163.Suche in Google Scholar
19. Kolesinska, Z, Acierno, JJ, Ahmed, SF, Xu, C, Kapczuk, K, Skorczyk-Werner, A, et al.. Integrating clinical and genetic approaches in the diagnosis of 46,XY disorders of sex development. Endocr Connect 2018;7:1480–90. https://doi.org/10.1530/ec-18-0472.Suche in Google Scholar
20. Lek, N, Tadokoro-Cuccaro, R, Whitchurch, JB, Mazumder, B, Miles, H, Prentice, P, et al.. Predicting puberty in partial androgen insensitivity syndrome: use of clinical and functional androgen receptor indices. EBioMedicine 2018;36:401–9. https://doi.org/10.1016/j.ebiom.2018.09.047.Suche in Google Scholar PubMed PubMed Central
© 2024 Walter de Gruyter GmbH, Berlin/Boston
Artikel in diesem Heft
- Frontmatter
- Original Articles
- Diabetic ketoacidosis in youth with diabetes mellitus during the COVID-19 pandemic
- Urinary biomarkers NG AL and beta-2 microglobulin in children with type 1 diabetes mellitus
- Diagnostic utility of the average peak LH levels measured during GnRH stimulation test
- Growth pattern, growth deceleration, and relevant predictors in girls treated with GnRHa: a retrospective longitudinal study
- Lymphedema in Turner syndrome: correlations with phenotype and karyotype
- Children and adolescents with differentiated thyroid cancer from 1998 to 2018: a retrospective analysis
- Do body esteem and quality of life scores change with puberty signs or precocious puberty treatment?
- Applicability of the External Genitalia Score (EGS) in Indian neonates and children up to 2 years of age
- Case Reports
- New perspectives for the treatment and follow-up of glycogen storage disease type V: DL-3-hydroxybutyric acid with modified Atkins diet and quadriceps femoris shear wave elastography
- Thyroid abscess associated with transient hyperthyroidism in an adolescent girl: a rare case report and review of the literature
- Ovarian hyperthecosis in adolescent females: two case reports and a review of the literature
- A novel variant of the STAR gene: nonclassical presentation from Turkey
Artikel in diesem Heft
- Frontmatter
- Original Articles
- Diabetic ketoacidosis in youth with diabetes mellitus during the COVID-19 pandemic
- Urinary biomarkers NG AL and beta-2 microglobulin in children with type 1 diabetes mellitus
- Diagnostic utility of the average peak LH levels measured during GnRH stimulation test
- Growth pattern, growth deceleration, and relevant predictors in girls treated with GnRHa: a retrospective longitudinal study
- Lymphedema in Turner syndrome: correlations with phenotype and karyotype
- Children and adolescents with differentiated thyroid cancer from 1998 to 2018: a retrospective analysis
- Do body esteem and quality of life scores change with puberty signs or precocious puberty treatment?
- Applicability of the External Genitalia Score (EGS) in Indian neonates and children up to 2 years of age
- Case Reports
- New perspectives for the treatment and follow-up of glycogen storage disease type V: DL-3-hydroxybutyric acid with modified Atkins diet and quadriceps femoris shear wave elastography
- Thyroid abscess associated with transient hyperthyroidism in an adolescent girl: a rare case report and review of the literature
- Ovarian hyperthecosis in adolescent females: two case reports and a review of the literature
- A novel variant of the STAR gene: nonclassical presentation from Turkey