Beyond ambiguous genitalia: Comprehensive diagnosis and management of congenital adrenal hyperplasia

Abstract

Introduction: Congenital Adrenal Hyperplasia encompasses a spectrum of enzyme anomalies of autosomal recessive inheritance where an enzyme necessary for synthesizing cortisol and aldosterone is absent or deficient. 21-hydroxylase deficiency is the most common cause, and its most severe presentation is the classic virilizing and salt-wasting form.

Purpose: This paper aims to present and discuss a classic case of congenital adrenal hyperplasia and expose the importance of its early detection to avoid the fatal consequences of not receiving prompt treatment.

Case presentation: Neonate with sex chromosome XX, with 21 hydroxylase deficiency in its classic form. The suspicion was raised through the discovery of male external genitalia, electrolyte alterations and karyotype. The diagnosis was confirmed with the measurement of androstenedione and 17 alpha-hydroxyprogesterone. Treatment was based on the correction of hyperkalemia and the use of glucocorticoids and mineralocorticoids.

Discussion and conclusion: Neonatal screening should be performed routinely. Early diagnosis is essential to avoid a potentially fatal adrenal crisis. The fundamental pillar of treatment is a hormonal replacement of glucocorticoids and mineralocorticoids, and long-term follow-up should also aim to avoid adrenal crises.

Congenital adrenal hyperplasia is a pathology that affects infant morbidity and mortality due to the clinical implications that result from an adrenal crisis. It is imperative that neonatal screening be implemented in Colombia to achieve prompt diagnosis and targeted treatment from an early age.