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Congenital Adrenal Hyperplasia: Experience from Dhaka Shishu (Children) Hospital, Bangladesh

R Biswas1, A B Kamrul-Hasan, S N Rahman

  • 1Dr Rabi Biswas, Associate Professor, Department of Pediatric Endocrinology and Metabolic Disorders, Bangladesh Institute of Child Health and Dhaka Shishu (Children) Hospital, Dhaka, Bangladesh;

Mymensingh Medical Journal : MMJ
|October 1, 2024
PubMed

Insights

Congenital adrenal hyperplasia (CAH) data is scarce in Bangladesh. This study found significant sex assignment errors and delayed diagnosis in CAH patients, highlighting the need for increased awareness and earlier detection.

Area of Science:

  • Pediatric Endocrinology
  • Genetics
  • Public Health

Background:

  • Congenital adrenal hyperplasia (CAH) is a group of genetic disorders affecting the adrenal glands.
  • There is limited data on CAH prevalence and characteristics in Bangladesh.
  • Early diagnosis and management are crucial for preventing life-threatening complications.

Purpose of the Study:

  • To collect baseline data on CAH in pediatric patients in Bangladesh.
  • To identify specific challenges and issues related to CAH diagnosis and management in the region.
  • To analyze clinical presentation, diagnostic delays, and sex assignment accuracy.

Main Methods:

  • Retrospective analysis of medical records of pediatric patients diagnosed with CAH.
  • Inclusion criteria: diagnosis of CAH confirmed by serum 17-Hydroxyprogesterone (17-OHP) assay and karyotyping.
  • Data collected: patient demographics, CAH subtype (salt-wasting, simple virilizing, non-classical), age at presentation, sex assignment, and diagnostic findings.

Main Results:

  • Sixty CAH patients were analyzed: 66.7% salt-wasting (SW), 25% simple virilizing (SV), 8.3% non-classical (NC).
  • 75% of patients were female, 25% male.
  • 25% of patients experienced incorrect sex assignment at initial presentation.
  • SW CAH presented earlier (median 1.0 month) than SV CAH (median 12.0 months).
  • Boys were diagnosed later than girls.

Conclusions:

  • Congenital adrenal hyperplasia diagnosis in Bangladesh is hampered by significant sex assignment errors and delayed detection.
  • Earlier diagnosis, irrespective of sex, is vital to prevent mortality from salt-losing crises and ensure proper gender assignment.
  • Increased public and caregiver awareness is essential for early clinical identification and referral in resource-poor settings like Bangladesh.

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