Quality of Life in Congenital Adrenal Hyperplasia with Disorders of Sex Development: Case Series

• Main Authors: Nur Rochmah, -, Muhammad Faizi, -, DEDY SETIAWAN, -
• Format: Article PeerReviewed
• Language: English; English; English; English; English
• Published: 2021
• Subjects: R Medicine (General); RJ Pediatrics
• Online Access: https://repository.unair.ac.id/126892/1/19%20-%20Artikel.pdf; https://repository.unair.ac.id/126892/2/19%20-%20Korespondensi.pdf; https://repository.unair.ac.id/126892/3/19%20-%20Kualitas%20Karil.pdf; https://repository.unair.ac.id/126892/4/19%20-%20Turnitin.pdf; https://repository.unair.ac.id/126892/8/Karil%20-%20Quality%20of%20Life%20in%20Congenital%20Adrenal%20Hyperplasia%20with%20Disorders%20of%20Sex%20Development%20Case%20Series.pdf; https://repository.unair.ac.id/126892/; http://www.apjpch.com/?page=article&number=135&article=Quality%20of%20Life%20in%20Congenital%20Adrenal%20Hyperplasia%20with%20Disorders%20of%20Sex%20Development:%20Case%20Series
• Institution: Universitas Airlangga

Background: Congenital adrenal hyperplasia is the most common cause of disorders of sex development with incidence being 1/15,000 live birth cases. Children with ambiguous genitalia appearance can affect their quality of life. Aim: To evaluate the quality of life in children with disorders of sex development. Case Description: We have five patients aged 6, 7, 8, 12, and 15 years with atypical external genital appearance that their parents complained since toddler. In addition to find abnormalities on physical examination, we also found abnormalities on karyotyping, ultrasound, blood sex hormones, and MRI examinations. We determined their quality of life using the PedsQL 4.0 General Score. Of the four items of questionnaire, emotional items showed the lowest score in five patients, respectively 25, 25, 50, 31.25, and 25. Conclusion: Disorders of sex development influenced the patient's quality of life, especially in emotional items. It may lead to their psychological impacts because they feel sad, afraid, and worried with their ambiguous genitalia.