Clinical Characteristics and Morbidity of Congenital Adrenal Hyperplasia at the Initial Presentation - Are we on Right Trend? A Descriptive Study at a Single Center

Background: Congenital adrenal hyperplasia (CAH) is the commonest cause for adrenal insufficiency in children. Presentation can be varied from isolated genital virilization to significant circulatory compromise with life threatening salt wasting crisis. Newborn screening has been introduced in many European countries at present albeit lack of agreed consensus and heterogeneous evidence. The objectives were to describe the initial clinical presentation and diagnostic biochemistry of CAH and if the disease morbidity related to CAH has been improved with established paediatric endocrine services. Further, to assess the benefit from a possible future newborn screening program.Methods: A Case note review of patients with CAH diagnosed clinically and biochemically and followed up at large Paediatric endocrine service of Lady Ridgeway Hospital for children in Sri Lanka from 2015 to 2021 was undertaken. Data were collected both retrospectively and prospectively.Results: 47 patients (Male 25 vs female 22). with CAH were included. The majority were 21-α hydroxylase deficiency (21 OHD) (74.4%) followed by 3 β hydroxysteroid dehydrogenase deficiency (3B-HSD) (21.2%) and 11β Hydroxylase deficiency (4.2%) respectively. Of the patients with salt loosing CAH due to 21 OHD, females presented significantly earlier compared to males (p=0.0117) with a mean presentation age of 12.06 days albeit a sex difference in incidence was not noted Ambiguity of external genitalia was the commonest reason for referral in infancy (n=12, 40%) with a mean age of presentation 10 days. 58% (n=23) of salt-losing CAH was diagnosed within the first 2 weeks of life and treatment was started within 24 hours of diagnosis. No mortalities were reported during the study period.Conclusion: This cohort shows lesser morbidity and mortality in the absence of sex preference in incidence possibly due to increased awareness with improved paediatric endocrine service provision. Relatively delayed presentation of patients who had ambiguous Genitalia emphasizes a need of national consensus for a referral pathway for earlier diagnosis and commencing treatment. Introduction of a new born screening program may not be cost effective in the absence of severe morbidity and mortality.