Pediatrician/Neonatologist: the first doctor in the evaluation of children with sex ambiguity

Main Article Content

Andrea Trevas Maciel-Guerra
Gil Guerra-Junior

Abstract

Objective: To present the main knowledge that the pediatrician or neonatology must have to evaluate children with genital ambiguity (GA) and provide guidance to family members. Methods: Review of scientific literature through articles published in PubMed, highlighting the Chicago Consensus published in 2006 and its review in 2016. Results: The pediatrician or neonatologist should: (1) know normal sexual differentiation; (2) know how to identify a GA and which child should be investigated; (3) look for key data in clinical history and physical examination; (4) know the first laboratory tests to be asked; (5) know the main etiologies of GA; (6) know how to talk to the family about sex of rearing. Conclusions: Though cases of GA are relatively rare in the population and rarely observed in daily pediatric practice, early and correct diagnosis requires adequate medical attention, in order to allow the establishment of prognosis (puberty, fertility and risk of neoplasia), therapeutic planning and genetic counseling, reducing family anxiety and the risk of psychological and social problems. The multidisciplinary team is essential for diagnostic and therapeutic success. The pediatrician or neonatologist is a key player in this team, being responsible for the first information given to the family, and should assume the role of interlocutor between the family and the team, respecting their social, cultural, economic and religious particularities.

Downloads

Download data is not yet available.
👁 Abstract Views: 81📥 PDF PT (Português (Brasil)) Downloads: 3

Article Details

How to Cite
Andrea Trevas Maciel-Guerra, & Gil Guerra-Junior. (2020). Pediatrician/Neonatologist: the first doctor in the evaluation of children with sex ambiguity. Revista De Pediatria SOPERJ, 20(1), 18–25. https://doi.org/10.31365/issn.2595-1769.v20i1p18-25
Section
Artigo de Revisão

References

1. Lee PA, Houk CP, Ahmed SF, Hughes IA; International Consensus Conference on Intersex organized by the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology. Consensus statement on management of intersex disorders. International Consensus Conference on Intersex. Pediatrics. 2006;118:488-500.

2. Lee PA, Nordenström A, Houk CP, Ahmed SF, Auchus R, Baratz A, et al. Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care. Horm Res Paediatr. 2016;85(3):158-80.

3. American Academy of Pediatrics. Evaluation of the newborn with developmental nomalies of the external genitália. Pediatrics. 2000;106:138-42.

4. Guerra-Júnior G, Maciel-Guerra AT. The role of the pediatrician in the management of children with genital ambiguities. J Pediatr (Rio J). 2007;83(5 Suppl):S184-91.

5. Ogilvy-Stuart AL, Brain CE. Early assessment of ambiguous genitalia. Arch Dis Child. 2004;89:401-7.

6. Nelson CP, Gearhart JP. Current views on evaluation, management, and gender assignment of the intersex infant. Nat Clin Pract Urol. 2004;1:38-43.

7. Eugster EA, Hains D, DiMeglio LA. Initial management of infants with intersex conditions in a tertiary care center: a cautionary tale. J Pediatr Endocrinol Metab. 2006;19:191-2.

8. Migeon CJ, Wisniewski AB. Human sex differentiation and its abnormalities. Best Pract Res Clin Obstet Gynaecol. 2003;17:1-18.

9. Hughes IA. Minireview: sex differentiation. Endocrinology. 2001;142:3281-7.

10. Guerra-Junior G, Maciel-Guerra AT. A determinação e diferenciação sexual normais: atualização. Arq Bras Encocrinol Metab. 1997;41:191-7.

11. Moraes SG, Maciel-Guerra AT. Aspectos embriológicos. In: Menino ou menina? Os Distúrbios da Diferenciação do Sexo. Curitiba: Editora Appris, 2019. pp. 21-34.

12. MacLaughlin DT, Donahoe PK. Mullerian inhibiting substance: an update. Adv Exp Med Biol. 2002;511:25-38.

13. Hannema SE, Hughes IA. Regulation of Wolffian duct development. Horm Res. 2007;67:142- 51.

14. Danih RK. Intersex problems in the neonate. Indian J Pediatr. 1982;49:555-75.

15. Gabrich PN, Vasconcelos JS, Damião R, Silva EA. Penile anthropometry in Brazilian children and adolescents. J Pediatr (Rio J). 2007;83(5):441-6.

16. Machado-Neto FA, Morcillo AM, Maciel-Guerra AT, Guerra-Junior G. Idiopathic male pseudohermaphroditism is associated with prenatal growth retardation. Eur J Pediatr. 2005;164:287-91.

17. 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.

18. Ahmed SF, Khwaja O, Hughes IA. The role of a clinical score in the assessment of ambiguous genitalia. BJU Int. 2000;85(1):120-4.

19. Bertelloni S, Russo G, Baroncelli GI. Human chorionic gonadotropin test: old uncertainties, new perspectives, and value in 46,XY Disorders of Sex Development. Sex Dev. 2018;12(1- 3):41-9.

20. Guerra-Junior G, Andrade KC, Barcelos IHK, Maciel-Guerra AT. Imaging techniques in the diagnostic journey of Disorders of Sex Development. Sex Dev. 2018;12(1-3):95-9.

21. Cox K, Bryce J, Jiang J, Rodie M, Sinnott R, Alkhawari M, et al. Novel associations in disorders of sex development: findings from the I-DSD Registry. J Clin Endocrinol Metab. 2014;99(2):E348-55.

22. Paula GB, Barros BA, Carpini S, Tincani BJ, Mazzola TN, Guaragna MS, et al. 408 cases of genital ambiguity followed by single multidisciplinary team during 23 years: etiologic diagnosis and sex of rearing. Int J Endocrinol. 2016;496374.

23. Robboy SJ, Jaubert F. Neoplasms and pathology of sexual developmental disorders (intersex). Pathology. 2007;39:147-63.

24. Cools M, Drop SL, Wolffenbuttel KP, Oosterhuis JW, Looijenga LH. Germ cell tumors in the intersex gonad: old paths, new directions, moving frontiers.Endocr Rev. 2006;27:468-84.

25. Kuhnle U, Krahl W. The impact of culture on sex assignment and gender development in intersex patients. Perspect Biol Med. 2002;45:85-103.

26. Spinola-Castro AM. Importance of ethical and psychological features in the intersex management. Arq Bras Endocrinol Metabol. 2005;49:46-59.

27. Daaboul J, Frader J. Ethics and the management of the patient with intersex: a middle way. J Pediatr Endocrinol Metab. 2001;14:1575-83.

28. Kirtane J. Ethics in intersex disorders. Issues Med Ethics. 2000;8:47-8.

29. Hester JD. Intersex(es) and informed consent: how physicians' rhetoric constrains choice. Theor Med Bioeth. 2004;25:21-49.

30. Hermer L. Paradigms revised: intersex children, bioethics & the law. Ann Health Law. 2002;11:195-236.