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Profile of children with congenital adrenal hyperplasia--a hospital study
R Bhanji1, A H Khan, I L Balouch
1Department of Pathology, The Aga Khan University, Karachi.
Insights
Congenital adrenal hyperplasia (CAH) affects Pakistani children, with high rates of misassigned sex and parental consanguinity. Early diagnosis and genetic counseling are crucial for managing this genetic disorder.
Area of Science:
- Pediatric Endocrinology
- Medical Genetics
- Public Health
Background:
- Congenital adrenal hyperplasia (CAH) is a group of genetic disorders affecting the adrenal glands.
- Accurate diagnosis and management are critical for patient outcomes, especially in regions with specific genetic predispositions.
Purpose of the Study:
- To gather baseline data on congenital adrenal hyperplasia (CAH) in Pakistan.
- To identify unique challenges and characteristics of CAH within the Pakistani population.
Main Methods:
- Retrospective analysis of medical records from 1987-1998 at The Aga Khan University, Karachi.
- Review of pediatric patients diagnosed with CAH, focusing on serum 17-hydroxyprogesterone (17-OHP) measurements.
Main Results:
- Sixty-three out of 152 children tested were diagnosed with CAH, with salt-wasting (63%), simple virilization (29%), and non-classical (8%) forms identified.
- A significant proportion (33.9%) experienced incorrect sex assignment, predominantly females (32.2%).
- High parental consanguinity (52.3%) and sibling involvement (30.6%) were noted, alongside a history of sibling deaths in neonatal/infancy periods.
Conclusions:
- Early diagnosis of CAH is essential for appropriate sex assignment and treatment.
- The elevated rate of consanguinity highlights the need for further research into the true incidence and genetic counseling strategies for CAH in Pakistan.
Objective:
To collect baseline information on congenital adrenal hyperplasia (CAH) and to identify relevant issues specific to this disease in Pakistan.
Methods:
A retrospective analysis of medical records of pediatric patients registered for serum 17 hydroxyprogesterone (17-OHP) measurement and documented to have CAH in the period 1987 to 1998 was carried out at The Aga Khan University, Karachi (AKU). The clinical notes were reviewed for documentation of CAH as the diagnosis.
Results:
Of the 152 children registered for 17-OHP testing, sixty-three were diagnosed with CAH. Salt wasting, simple virilization and non-classical CAH was found in 40 (63%), 18 (29.0%) and 5 (8.0%) patients respectively. Twenty-one (33.9%) patients were incorrectly assigned sex and of these, 20 (32.2%) patients were females who were either considered males or just not assigned gender. Parental consanguinity was found in 33 (52.3%) cases. No case had a history of similar features in either parent but in 19 (30.6%) cases similar features were present in siblings. Sixteen cases (25.4%) had a history of sibling death in the neonatal period and 7 had a history of sibling death in infancy. Maternal obstetric histories identified 3 (4.8%) cases with a history of still birth(s) and 4 (6.4%) with a history of abortion(s).
Conclusion:
Children with CAH should be diagnosed early as a rational and judicious choice of sex assignment is a critical aspect of treatment. The high rate of consanguinity emphasized the need to establish the true incidence of the defect in Pakistani population.
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