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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Main Authors: Nur Rochmah, -, Muhammad Faizi, -, Adwina Nurlita Kusuma Wardhani, -
Format: Article PeerReviewed
Language:English
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Published: Indonesian Pediatric Society 2021
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Online Access:https://repository.unair.ac.id/126867/1/9%20-%20Artikel.pdf
https://repository.unair.ac.id/126867/2/9%20-%20Korespondensi.pdf
https://repository.unair.ac.id/126867/3/9%20-%20Kualitas%20Karil.pdf
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https://repository.unair.ac.id/126867/8/Karil%20-%20Ethical%20aspects%20of%20gender%20assignment%20in%20ambiguous%20genitalia-congenital%20adrenal%20hyperplasia%20A%20case%20report.pdf
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spelling id-langga.1268672023-05-30T22:08:33Z https://repository.unair.ac.id/126867/ Ethical aspects of gender assignment in ambiguous genitalia-congenital adrenal hyperplasia: a case report Nur Rochmah, - Muhammad Faizi, - Adwina Nurlita Kusuma Wardhani, - R Medicine (General) RJ Pediatrics 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. 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. Indonesian Pediatric Society 2021-11-03 Article PeerReviewed text en https://repository.unair.ac.id/126867/1/9%20-%20Artikel.pdf text en https://repository.unair.ac.id/126867/2/9%20-%20Korespondensi.pdf text en https://repository.unair.ac.id/126867/3/9%20-%20Kualitas%20Karil.pdf text en https://repository.unair.ac.id/126867/4/9%20-%20Turnitin.pdf text en https://repository.unair.ac.id/126867/8/Karil%20-%20Ethical%20aspects%20of%20gender%20assignment%20in%20ambiguous%20genitalia-congenital%20adrenal%20hyperplasia%20A%20case%20report.pdf Nur Rochmah, - and Muhammad Faizi, - and Adwina Nurlita Kusuma Wardhani, - (2021) Ethical aspects of gender assignment in ambiguous genitalia-congenital adrenal hyperplasia: a case report. Paediatrica Indonesiana, 61 (6). pp. 356-358. ISSN 2338-476X https://www.paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/2376
institution Universitas Airlangga
building Universitas Airlangga Library
continent Asia
country Indonesia
Indonesia
content_provider Universitas Airlangga Library
collection UNAIR Repository
language English
English
English
English
English
topic R Medicine (General)
RJ Pediatrics
spellingShingle R Medicine (General)
RJ Pediatrics
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. 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
PeerReviewed
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
publishDate 2021
url https://repository.unair.ac.id/126867/1/9%20-%20Artikel.pdf
https://repository.unair.ac.id/126867/2/9%20-%20Korespondensi.pdf
https://repository.unair.ac.id/126867/3/9%20-%20Kualitas%20Karil.pdf
https://repository.unair.ac.id/126867/4/9%20-%20Turnitin.pdf
https://repository.unair.ac.id/126867/8/Karil%20-%20Ethical%20aspects%20of%20gender%20assignment%20in%20ambiguous%20genitalia-congenital%20adrenal%20hyperplasia%20A%20case%20report.pdf
https://repository.unair.ac.id/126867/
https://www.paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/2376
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