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

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 r...

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Autores principales: Nur Rochmah, Muhammad Faizi, Adwina Nurlita Kusuma Wardhani
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Lenguaje:EN
Publicado: Indonesian Pediatric Society Publishing House 2021
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Acceso en línea:https://doaj.org/article/9dac2396569c420187fcad545c89886f
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spelling oai:doaj.org-article:9dac2396569c420187fcad545c89886f2021-11-29T02:29:22ZEthical aspects of gender assignment in ambiguous genitalia - congenital adrenal hyperplasia: a case report0030-93112338-476X10.14238/pi61.6.2021.356-8https://doaj.org/article/9dac2396569c420187fcad545c89886f2021-11-01T00:00:00Zhttps://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/2376https://doaj.org/toc/0030-9311https://doaj.org/toc/2338-476XCongenital 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.Nur RochmahMuhammad FaiziAdwina Nurlita Kusuma WardhaniIndonesian Pediatric Society Publishing Housearticleethical approach; congenital adrenal hyperplasia; child; ambiguous genitalia; gender identityMedicineRPediatricsRJ1-570ENPaediatrica Indonesiana, Vol 61, Iss 6, Pp 356-8 (2021)
institution DOAJ
collection DOAJ
language EN
topic ethical approach; congenital adrenal hyperplasia; child; ambiguous genitalia; gender identity
Medicine
R
Pediatrics
RJ1-570
spellingShingle ethical approach; congenital adrenal hyperplasia; child; ambiguous genitalia; gender identity
Medicine
R
Pediatrics
RJ1-570
Nur Rochmah
Muhammad Faizi
Adwina Nurlita Kusuma Wardhani
Ethical aspects of gender assignment in ambiguous genitalia - congenital adrenal hyperplasia: a case report
description 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.
format article
author Nur Rochmah
Muhammad Faizi
Adwina Nurlita Kusuma Wardhani
author_facet Nur Rochmah
Muhammad Faizi
Adwina Nurlita Kusuma Wardhani
author_sort Nur Rochmah
title Ethical aspects of gender assignment in ambiguous genitalia - congenital adrenal hyperplasia: a case report
title_short Ethical aspects of gender assignment in ambiguous genitalia - congenital adrenal hyperplasia: a case report
title_full Ethical aspects of gender assignment in ambiguous genitalia - congenital adrenal hyperplasia: a case report
title_fullStr Ethical aspects of gender assignment in ambiguous genitalia - congenital adrenal hyperplasia: a case report
title_full_unstemmed Ethical aspects of gender assignment in ambiguous genitalia - congenital adrenal hyperplasia: a case report
title_sort ethical aspects of gender assignment in ambiguous genitalia - congenital adrenal hyperplasia: a case report
publisher Indonesian Pediatric Society Publishing House
publishDate 2021
url https://doaj.org/article/9dac2396569c420187fcad545c89886f
work_keys_str_mv AT nurrochmah ethicalaspectsofgenderassignmentinambiguousgenitaliacongenitaladrenalhyperplasiaacasereport
AT muhammadfaizi ethicalaspectsofgenderassignmentinambiguousgenitaliacongenitaladrenalhyperplasiaacasereport
AT adwinanurlitakusumawardhani ethicalaspectsofgenderassignmentinambiguousgenitaliacongenitaladrenalhyperplasiaacasereport
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