ANALISIS PEDIGREE DAN MANIFESTASI KLINIS PASIEN DISORDERS OF SEX DEVELOPMENT (DSD) DI RSUP DR. MOHAMMAD HOESIN PALEMBANG TAHUN 2020 – 2023

KHAIRUNNISA, TYAS CITRA and Maritska, Ziske and Purnamasari, Septi (2024) ANALISIS PEDIGREE DAN MANIFESTASI KLINIS PASIEN DISORDERS OF SEX DEVELOPMENT (DSD) DI RSUP DR. MOHAMMAD HOESIN PALEMBANG TAHUN 2020 – 2023. Undergraduate thesis, Sriwijaya University.

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Abstract

Background: Disorders of Sex Development (DSD) is a congenital disorder marked by chromosomal, gonadal, or anatomical abnormalities in sex development with a prevalence of 1:4500 to 1:5000. DSD diagnosis remains a challenge in Indonesia due to limited access to specialized genetic testing. Early diagnosis and appropriate management are important to improve patient outcomes. This study aims to analyze DSD patients’ pedigree and clinical manifestations as an early screening tool before referral to a specialist. Methods: This descriptive observational research used a cross-sectional approach. Primary data were obtained through interviews with patients and their families, while secondary data were collected from medical records at Dr. Mohammad Hoesin Hospital Palembang from 2020 to 2023. Results: Among 31 samples that met the inclusion criteria, the largest age group for treatment was infancy (29%), with females representing 51.6% of cases. The most common clinical finding and complaint was clitoromegaly (16.1% and 19.4%). An autosomal recessive inheritance pattern was observed in 22.5% of cases. Family history revealed consanguinity in 3.2% of patients, a similar condition in 12.9%, infant death in 22.6%, and recurrent abortions in 16.1%. Conclusion: This study showed variations in clinical manifestations and significant findings in pedigree analysis of DSD patients. The most common inheritance pattern is the autosomal recessive inheritance pattern. Clitoromegaly was the main complaint and the most common clinical manifestation that prompted patients to seek medical attention. Keywords: Disorders of Sex Development, DSD, pedigree analysis, clinical manifestations

Item Type:	Thesis (Undergraduate)
Uncontrolled Keywords:	Disorders of sex development, DSD, analisis pedigree, manifestasi klinis
Subjects:	R Medicine > R Medicine (General) > R735-854 Medical education. Medical schools. Research R Medicine > RJ Pediatrics > RJ47.3-47.4 Genetic aspects
Divisions:	04-Faculty of Medicine > 11201-Medicine (S1)
Depositing User:	Tyas Citra Khairunnisa
Date Deposited:	04 Dec 2024 07:26
Last Modified:	04 Dec 2024 07:26
URI:	http://repository.unsri.ac.id/id/eprint/160028

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