Biomedicine

Abstract

Congenital adrenal hyperplasia is an autosomal recessive disease marked by lack of enzymes required to produce specific hormones. About 90-95% of CAH are caused by steroid 21-hydroxylase deficiency and are the result of mutations in the CYP21A2 gene. Bartter syndrome is a rare autosomal recessive disorder characterized by hyperreninemia, metabolic alkalosis, hypokalaemia, and hypochloremia by activation of the RAS. The underlying renal abnormality results in electrolyte and acid-base imbalance abnormalities. We present a rare case of NCCAH coexisting with Bartter syndrome. A 5 years and 7 months old male was diagnosed with NCCAH at 20 days of life presented with fever and cold for one month, as well as recurrent UTIs for two weeks. General physical examination revealed carpopedal spasm, pubic hairs (+) with penile length (8.5 cm). Investigation revealed kaliuresis, hypercalciuria, metabolic alkalosis, hypokalaemia, and hypochloremia. X-ray of the left wrist revealed bone age as 9 years and genetic analysis was recommended. NCCAH with coexisting BS complicated with central precocious puberty was diagnosed. Symptomatic treatment was administered, and long-term steroid replacement advised. Congenital adrenal hyperplasia and Bartter syndrome is difficult to treat, and there is currently no complete cure. Close monitoring and prompt electrolyte replacement with symptomatic treatment are recommended.