Clinical profile of congenital adrenal hyperplasia (CAH): A treatable disease

Jotsna Ara Begum1, Md. Abul Kashem Sarker2, Mahbubul Hoque3, Mohammad Abdullah Al Mamun4, Mohammed Reaz Mobarak5, Rabi Biswas6, Md. Rafiqul Islam7

Background: Congenital adrenal hyperplasia (CAH) is a common and potentially
fatal disease in neonate and it is related to precocious pubertal problem in childhood
which can be easily diagnosed by proper clinical examination including history with
hormone measurement in blood.
Objective: This study was conducted to see the steps of diagnosing CAH (21-
hydroxylase deficiency) by important clinical features and doing 17-
hydroxyprogesterone level.
Methodology: This was a prospective observational study. Children with CAH
presenting in the Paediatric Endocrinology department of Dhaka Shishu Hospital
from March 2007 to October 2010 were included. CAH was diagnosed in appropriate
clinical setting with elevated basal 17-hydroxyprogesterone (17OHP) levels. Patients
were evaluated for age, presenting features and diagnosis at first contact.
Results: CAH (11%) comprises the second most common endocrine disorder. Female
predominance was seen (male 37.8% and female 62.5%) with a male female ratio of
1:1.66. Majority (68.8%) of the CAH patients were presented during early infancy and
female were more commonly (43.8%) diagnosed during neonatal and early infancy
period. Ten (71.4%) patients were presented with salt wasting crisis and encountered
more frequently in male. Male patients’ diagnosis were missed in 80% of cases as
changes in male genitalia are difficult to identify among our race.
Conclusion: Proper history, meticulous physical examination and simple electrolyte
measurement can create high suspicion of CAH. Male infants presenting with signs
of sepsis, showing hyponatremia and hyperkalemia should have suspicion of CAH.
Early recognition and immediate treatment of salt wasting CAH is needed to save
babies in countries where neonatal screening is not available.

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