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ANALISIS PEDIGREE PADA PASIEN 46, XX DISORDERS OF SEX DEVELOPMENT (DSD) AKIBAT CONGENITAL ADRENAL HYPERPLASIA (CAH) DI RSUP dr. MOHAMMAD HOESIN

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Background. Disorders of Sex Development (DSD) are congenital disorders involving abnormal development of chromosomes, gonads, and sexual anatomy, with Congenital Adrenal Hyperplasia (CAH) being the most common cause in 46, XX patients. CAH is inherited in an autosomal recessive manner, with a higher risk in families with consanguineous marriages. Early detection is crucial because severe CAH, particularly the salt-wasting type, can be fatal shortly after birth. Therefore, this study was conducted to identify a history of diarrhoea and vomiting in patients, clinical manifestations in family members, and consanguineous marriages in the patients' families. Methods. This study used a descriptive survey design with total sampling. The sample consisted of 46 XX DSD patients with CAH and their family members who were treated at Dr. Mohammad Hoesin Palembang General Hospital (period: January 2020–August 2025). Data were collected from 1 July to 30 September 2025 through Google Forms and interviews for pedigree analysis and hyperandrogenism symptoms. Results. All patients were diagnosed with classic CAH (100%), dominated by the Salt Wasting subcategory (75.9%). The dominant postnatal symptoms were recurrent vomiting (62.1%) and diarrhoea (34.5%). In female family members, oligomenorrhoea (37.5%) and clitoromegaly (12.5%) were found. A history of consanguineous marriage was identified in 18.8% of the sample families. Conclusion. No non-classical CAH was found. All patients (100%) had classical CAH, the majority of which were Salt Wasting (75.9%), characterised by recurrent vomiting (62.1%). Manifestations of heterozygous carriers included oligomenorrhoea (37.5%) and clitoromegaly (12.5%). A consanguinity history (18.8%) was identified, indicating genetic risk, although a direct statistical relationship with carrier manifestations could not be analysed. Keywords. Disorders of Sex Development, Congenital Adrenal Hyperplasia, pedigree analysis, DSD CAH 46 XX patient

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Detail Information

Series Title

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Call Number

T1867692025

Publisher

Palembang : Prodi Pendidikan Kedokteran, Fakultas Kedokteran Universitas Sriwijaya., 2025

Collation

xix, 109 hlm.; ilus.; tab.; 29 cm.

Language

Indonesia

ISBN/ISSN

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Classification

576.507

Content Type

Text

Media Type

unmediated

Carrier Type

other (computer)

Edition

-

Subject(s)

Prodi Pendidikan Kedokteran
Kelainan Bawaan--Genetika

Specific Detail Info

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MI

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