Background: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterised by impaired cortisol synthesis. An enzymatic defect in 11-beta-hydroxylase is the second most common variant of CAH and accounts for approximately 58% of cases. Patients present with features of androgen excess and approximately two thirds of patients also have high blood pressure (HBP), which is initially responsive to glucocorticoid replacement, but may become a chronic condition subsequently requiring standard antihypertensive therapy.
Case presentation: We present the case of a 16 years old girl, the child of a consanguineous couple, diagnosed with CAH in the neonatal period (ambiguous genitalia, female genetic sex. Daily treatment with glucocorticoids was initiated, but the medical follow-up and self-administered therapies were extremely irregular. There were several hospital admissions due to acute adrenal insufficiency until April 2014, when she presented severe hypertension, hyperkalemia and renal failure, precipitated by an infectious disease. Complete baseline endocrine evaluation (before restarting steroid replacement) was typical for CAH. Short stature (−3 S.D.), closed bone cartilages, amenorrhea were part of the clinical picture. Irregular medical compliance, poor medical fallow-up and inadequate stress adjustment of glucocorticoid dosage during acute infection resulted in irreversible consequences: severe hypertension, left ventricular hypertrophy, stage IV renal failure.
Conclusion: Generally, HBP in CAH is mild to moderate, but it has the great potential for long-term morbidity and ultimately associated with left ventricular hypertrophy, retinopathy, and macrovascular events. As illustrated by our patient, while early treatment to prevent hypertension is mandatory in patients with CAH, once renal failure occurs, renal transplantation may the best choice of treatment. Early recognition and adherence to treatment can prevent morbidity and mortality.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology