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USIA DIAGNOSIS, GAMBARAN KLINIS, HORMON 17-HIDROKSIPROGESTERONE, DAN USG PADA PASIEN 46, XX DISORDERS OF SEX DEVELOPMENT (DSD) CONGENITAL ADRENAL HYPERPLASIA (CAH) DI RSUP dr. MOHAMMAD HOESIN

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Background. DSD is a heterogeneous group of congenital conditions associated with variations in chromosomes, gonads, or anatomical sex. CAH is classified as a DSD that is usually diagnosed based on ambiguous genitalia in newborn girls or salt-wasting crises. Early diagnosis and treatment of CAH DSD patients is crucial. However, a major challenge is that research conducted primarily at the national level remains very limited. Therefore, this study was conducted to investigate the age of diagnosis, clinical presentation, 17-hydroxyprogesterone hormone levels, and ultrasound in 46, XX DSD CAH patients at Dr. Mohammad Hoesin General Hospital as a tool to assist in early screening for DSD, eliminate differential diagnoses, and refer patients to competent specialists for earlier intervention, thereby reducing the risk of complications or comorbidities that may occur. Methods. This study was a descriptive observational study with a cross-sectional approach. The sample consisted of all 46,XX DSD CAH patients who had undergone outpatient and inpatient treatment at Dr. Mohammad Hoesin Palembang General Hospital during the period January 1, 2019 – December 31, 2024 who met the inclusion criteria. Research sampling was conducted using purposive sampling at the Medical Records Unit of Dr. Mohammad Hoesin Palembang General Hospital. Results. The majority of patients with 46,XX DSD CAH were diagnosed at 1 month and 2 months of age, with 3 patients (17.6%) in each group; The specific systemic clinical features show a predominance of frequent vomiting or diarrhea at 47.05%; whereas the specific genital clinical features show a predominance of large clitoris (41.2%); Elevated 17-OHP hormone levels were found in seven patients or 41.2%; Abnormal abdominal ultrasound findings were found in five patients or 29.4%. Conclusion. The diagnosis of 46,XX DSD CAH can be made through a multidisciplinary approach involving a series of supporting tests. Keywords. Disorders of Sex Development; 46,XX DSD CAH; Congenital Adrenal Hyperplasia; 46,XX DSD.

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Detail Information

Series Title

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Call Number

T1871332025

Publisher

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

Collation

xvi, 74 hlm.; ilus.; tab.; 29 cm.

Language

Indonesia

ISBN/ISSN

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Classification

616.407

Content Type

Text

Media Type

unmediated

Carrier Type

other (computer)

Edition

-

Subject(s)

Penyakit endokrin
Prodi Pendidikan Kedokteran

Specific Detail Info

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Statement of Responsibility

MI

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