Naisya Balela
Department of Pediatric Surgery, Ulin Hospital, Banjarmasin, Indonesia

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Disorders of Sex Development in South Kalimantan: First Case Reports of a Neonate with 46,XX Virilization and an Adolescent with 46,XY Undervirilization Niarsari Anugrahing Putri; Indra Widjaya Himawan; Maria Ulfah; Naisya Balela
Jurnal KESANS : Kesehatan dan Sains Vol 5 No 8 (2026): KESANS: International Journal of Health and Science
Publisher : Rifa'Institute

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.54543/kesans.v5i8.633

Abstract

Introduction: Disorders of Sex Development (DSD) are rare congenital conditions with high diagnostic complexity. Objective: To describe the challenges in the diagnosis and management of DSD in South Kalimantan through two case reports. Method: Data were obtained from the medical records of two DSD patients in South Kalimantan. Results and Discussion: Case 1: A 10-day-old 46,XX neonate with ambiguous genitalia (Prader III), hyperkalemia (K 8.8), hyponatremia (Na 134), and hypoglycemia. Salt-wasting Congenital Adrenal Hyperplasia (CAH) was diagnosed (17-OHP 237 ng/mL). Case 2: A 17-year-old raised female with progressive virilization since age nine. Examination showed Prader IV, 7-cm phallus, bilateral testes (10–12 mL), absent Müllerian structures, and 46,XY karyotype, suggesting Partial Androgen Insensitivity Syndrome (PAIS) or 5α-reductase deficiency. Both cases reflect regional limitations: unavailable comprehensive hormonal testing, genetic molecular analysis, and no permanent multidisciplinary DSD team. Conclusions: Limitations in diagnostic resources at the regional level significantly impact the optimization of DSD patient management, necessitating the development of diagnostic capacity and multidisciplinary collaboration
Clinico-epidemiological profile of disorders of sex development at a tertiary referral hospital in South Kalimantan, Indonesia Maria Ulfah; Indra Widjaya Himawan; Niarsari Anugrahing Putri; Naisya Balela; Aulia Mufida; Nashwa Rifda Agustina; Nur Aisyah Munawaroh Ayu
Universa Medicina Vol. 45 No. 2 (2026): Ahead Of Print
Publisher : Faculty of Medicine, Universitas Trisakti

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.18051/UnivMed.2026.v45.%p

Abstract

BackgroundDisorders of sex development (DSD) comprise a group of complex conditions that pose significant diagnostic and clinical issues. This study aimed to describe the clinical spectrum, temporal patterns, and geographical distribution of DSD cases at a tertiary referral hospital in South Kalimantan, Indonesia. MethodsThis retrospective descriptive study analyzed medical records of patients with clinical features suggestive of DSD at Ulin General Hospital, Banjarmasin, between 2022 and 2025. Clinical diagnoses were established by a consultant pediatric endocrinologist based on phenotypic evaluation, consistent with approaches used in other Indonesian centers with limited access to karyotyping. Variables assessed included clinical diagnosis, age, sex, year of diagnosis, and domicile, whilst spatial analysis used Geographic Information System (GIS) software. ResultsAmong the 100 cases analyzed, severe hypospadias dominated (45 cases, 45%), followed by primary amenorrhea (28 cases, 28%) and micropenis (13 cases, 13%). Males accounted for 67% of cases, females for 32%, and one case had undetermined sex. Mean age at diagnosis was 9.41 ± 7.32 years (range: neonatal period to 35.4 years). Geographic analysis revealed notable disparities, with Banjarmasin contributing 40% of cases, while other districts each accounted for approximately 5%. ConclusionsThe findings indicate delayed diagnosis, potential underdiagnosis in rural areas, and geographic disparities that likely reflect differences in access to tertiary services rather than true occurrence variation. This highlights the importance of evaluating boys presenting with proximal penile hypospadias or micropenis and girls with primary amenorrhea for timely intervention. Strengthening early detection and expanding diagnostic capacity are essential to improve DSD clinical outcomes.