Ethical aspects of gender assignment in ambiguous genitalia - congenital adrenal hyperplasia: a case report
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
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.
Copyright (c) 2021 nur rochmah
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.
Authors who publish with this journal agree to the following terms:
Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
Accepted 2021-11-03
Published 2021-11-03
