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Published on: September 15, 2017

A clinical account of Pakistani children suffering from congenital adrenal hyperplasia

Sumreena Mansoor¹, Maria Hasan Baloch¹, Zarmast Khan²

¹Department of Biochemistry, Shifa College of Medicine, Islamabad, Pakistan.

JPMA. the Journal of the Pakistan Medical Association

|February 20, 2023

Insights

Congenital adrenal hyperplasia (CAH) in Pakistani children presents with hormonal imbalances and ambiguous genitalia. Improved registries and newborn screening are crucial for managing this rare genetic disorder.

Area of Science:

Endocrinology
Genetics
Paediatric Medicine

Background:

Congenital adrenal hyperplasia (CAH) is a group of genetic disorders affecting the adrenal glands.
It leads to deficiencies in cortisol and aldosterone, with elevated adrenal androgens.
Ambiguous genitalia is a significant clinical manifestation, posing challenges in socio-cultural contexts like Pakistan.

Purpose of the Study:

To investigate the clinical presentation, diagnosis, and management of paediatric CAH in Pakistan.
To analyze existing research on CAH within Pakistan.
To understand the challenges in diagnosing and managing CAH in the country.

Main Methods:

Retrospective analysis of five-year data from a tertiary care center in Pakistan.
Systematic review of published Pakistani literature on CAH.
Examination of clinical presentation, diagnostic approaches, and management strategies.

Main Results:

Hormonal imbalances (cortisol, aldosterone deficiency; androgen excess) cause CAH symptoms.
Ambiguous genitalia presents diagnostic and management difficulties, exacerbated by social factors.
Pakistan faces limitations in statistical data and diagnostic infrastructure for CAH.

Conclusions:

Effective management of paediatric CAH requires addressing hormonal deficiencies and clinical manifestations.
Establishing a robust disease registry is essential for understanding CAH prevalence and patterns.
Implementing a neonatal screening program is vital for early detection and intervention of CAH.

Read full analysis

Abstract:

The objective of the endeavour was to study the clinical presentation, diagnosis, and management of paediatric patients suffering from congenital adrenal hyperplasia and understand the issue in the light of available published data on the disease in Pakistan through a systematic analysis of researches. From an analysis of five-year retrospective data on congenital adrenal hyperplasia in patients of paediatric age group from a tertiary care centre in the capital of Pakistan and the available published Pakistani literature on CAH, it was concluded that the resultant deficiency of cortisol, aldosterone, and a rise in adrenal androgens is responsible for the symptomatology observed in the disease. Particularly, the presence of ambiguous genitalia makes the disease a difficult problem to tackle, especially in complex social conditions such as in Pakistan. The country not only lacks statistical data on the disease but also the diagnostic machinery making the problem two fold. It is only through maintaining an efficient disease registry and the introduction of neonatal screening programme that we might start grappling the crux of the issue.

Keywords:

Congenital adrenal hyperplasia, Presentation, Challenges, Pakistan.

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