Ethical aspects of gender assignment in ambiguous genitalia - congenital adrenal hyperplasia: a case report

  • Nur Rochmah http://orcid.org/0000-0002-3308-1711
  • Muhammad Faizi
  • Adwina Nurlita Kusuma Wardhani Department of Child Health, Faculty of Medicine, Universitas Airlangga, Prof. Dr. Moestopo 6-8, Surabaya, Indonesia, 60286
Keywords: Ethical approach; congenital adrenal hyperplasia; child; ambiguous genitalia; gender identity

Abstract

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder commonly caused by mutation of the CYP21A2 gene, resulting in deficiency of an enzyme required for cortisol synthesis in the adrenal cortex. In 90-95% of cases, the deficient enzyme is 21-hydroxylase (21-OH), with an incidence ranging from 1 in 5,000 to 15,000 live births across various ethnic and racial backgrounds. In classical 21-OH deficiency (21-OHD) CAH, excessive androgen exposure in the fetus results in virilization at birth.1

The management of ambiguous genitalia in children with CAH presents a unique and ethically challenging decision-making dilemma for the medical team. Insensitive and poorly informed statements made in the delivery room may cause long-term psychological problems for the families. It is important to refrain from assigning gender until sufficient diagnostic information can be gathered. Parents, as guardians, and the supporting medical team must make decisions on behalf of the child, with the goal of enabling the child to grow into a healthy and happy adult with his or her assigned gender.2,3 We report a case of a child with CAH, focusing on the ethical challenges in management of ambiguous genitalia.

References

1. Witchel SF. Congenital adrenal hyperplasia. J Pediatr Adolesc Gynecol. 2017;30:520-34. DOI: 10.1016/j.jpag.2017.04.001.
2. Gillam LH, Hewitt JK, Warne GL. Ethical principles for the management of infants with disorders of sex development. Horm Res Paediatr. 2010;74:412-8. DOI: 10.1159/000316940
3. Lathrop B, Cheney T. Ethical perspectives on the management of disorders of gender development in children. Medicolegal Bioeth. 2015;5:27-34. DOI: 10.2147/MB.S63708
4. Gaskin CM, Kahn SL, Bertozzi JC and Bunch PM. 2011. Skeletal development of the hand and wrist: a radiographic atlas and digital bone age companion. Oxford University Press. New York. 88-89.
5. Yau M, Khattab A, New MI. Prenatal diagnosis of congenital adrenal hyperplasia. Endocrinol Metab Clin North Am. 2016;45:267-81. DOI: 10.1016/j.ecl.2016.01.001
6. Ediati A, Juniarto AZ, Birnie E, Okkerse J, Wisniewski A, Drop S, et al. Social stigmatisation in late identified patients with disorders of sex development in Indonesia. BMJ Paediatrics Open. 2017;1:e000130. DOI: 10.1136/bmjpo-2017-000130
7. Anang A, Utari A and Triningsih E. 2018. Buku Ajar Endokrinologi Anak. In: Hiperplasia adrenal kongenital. Badan Penerbit Ikatan Dokter Anak Indonesia. Jakarta. 392-399.
Published
2021-11-03
How to Cite
1.
Rochmah N, Faizi M, Wardhani A. Ethical aspects of gender assignment in ambiguous genitalia - congenital adrenal hyperplasia: a case report. PI [Internet]. 3Nov.2021 [cited 20Jan.2022];61(6):356-. Available from: https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/2376
Section
Case Report
Received 2020-01-21
Accepted 2021-11-03
Published 2021-11-03