Clinical Profile, Predictors of Death and Anthropometric Follow up in Neonates with Classical 21-Hydroxylase Deficiency

Abstract

Introduction: More than 95% of cases of Congenital Adrenal Hyperplasia (CAH) are due to 21-hydroxylase deficiency. This enzyme deficiency can present as either severe classic form or the non classic form. Severe classic forms present early in life and include the salt wasting and simple virilising types. Data regarding the clinical profile and particularly follow up of the neonates admitted with this deficiency are lacking in developing countries. Aim: To study the clinical profile, predictors of outcome and anthropometric parameters at follow up of neonates admitted with classical 21-hydroxylase deficiency. Materials and Methods: This observational study (retrospective part for clinical profile and predictors of outcome, prospective cross-sectional assessment of height, weight, z scores and adequacy of treatment on follow up) included 40 neonates admitted with classical 21-hydroxylase deficiency to newborn ward of Institute of Child Health, Tertiary Neonatal Teaching Hospital in Chennai, South India from September 2006 to September 2016. Descriptive statistics were used to describe baseline variables. Results: Out of 40 neonates, 22 presented with salt wasting and 18 with simple virilising type. Five babies were lost to follow up. Eight babies with the salt wasting and one with simple virilising form of CAH passed away on follow up. Presence of shock/ severe dehydration, hyponatraemia (Na<125), weight loss in the salt wasting group at admission was not statistically significant predictors of their death. Poor compliance to medication was significantly higher in the parents who lost their children on follow up. Twenty-six children were present for recording anthropometric data after all the losses to follow up. Conclusion: A high index of suspicion of CAH in babies with typical clinical features will prevent any delay in diagnosis and treatment. Not only the acute management, but adequate counseling, compliance to medication and growth monitoring are also of utmost importance in managing these children.

Keywords

• congenital adrenal hyperplasia
• growth
• mortality
• shock