Clinical profile and growth pattern of children with congenital adrenal hyperplasia attending endocrine clinic, in a tertiary care center, South India

Abstract

Background: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders that result from the deficiency of one of several enzymes involved in the steroidogenic pathway for cortisol or aldosterone biosynthesis. Glucocorticoid replacement therapy, though largely effective in managing crises and limiting virilization, is far from perfect. Aims and Objectives: The aims and objectives of the study are to study the clinical profile and association between type of disease and glucocorticoid dosage with the growth of children with CAH attending pediatric and endocrinology outpatient department in a tertiary care hospital. Materials and Methods: This is a prospective observational study. All children who were newly diagnosed and old cases of CAH were consecutively recruited. Background details of the patient including sociodemographic data were obtained by a structured pro forma. Medical history and details of treatment were obtained from previous records. Patients were then followed up 6 monthly for 1 year and height and height velocity were obtained. Results: This study included 33 children (23 salt wasting [SW] and 10 simple virilizing [SV] CAH). Mean age was 6.3 ± 4.3 years. Among SW CAH, while 83.3% of male babies presented with adrenal crises while only 20% of the female babies went for a crisis, because most of them were diagnosed by the presence of ambiguous genitalia. Among SV patients, all females presented with ambiguous genitalia and males presented with precocious puberty. The overall height standard deviation was 0.8 ± 1.2 with a greater growth faltering in those taking higher doses of hydrocortisone. Growth was compromised more in SW CAH than in SV CAH. Conclusion: Growth in CAH is less compared to normal population and many factors including glucocorticoid dose and type of disease determine the growth and final height.