Abstract
Background: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders due to defect in enzymes involved in adrenal steroidogenesis with varied clinical presentations.Aims and Objectives: To understand the clinical and hormonal profile of individuals with CAH.Results: Twenty nine patients were included in this cross sectional study ( males (n) =15 (51.7%)) and females (n=14 (48.3%)) (adults=11) (born out of consanguineous marriage = 22 and 3 pairs of siblings). Thirteen patients had salt wasting (SW) phenotype, 14 had simple virilizing (SV) and 2 had non classical CAH (NCCAH). The presentation of SW phenotype was salt wasting crisis in males and ambiguous genitalia in females. The presentation of SV phenotype was clitoromegaly in females; precocious puberty and premature adrenarche in males. All the patients with NCCAH were females with virilization and primary amenorrhea. Majority of patients are on hydrocortisone (82.7%), the rest on prednisolone (13.7%) and dexamethasone (3.4%). Adult females with SV and NCCAH phenotypes had higher 17OHP levels at follow up. Mean adult height of patients with NCCAH was better than SV patients (154.5 cms vs 145.2 cms)Conclusions: The presentation of CAH may be varied but a screening at birth will help us to detect it early.
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