A case of congenital adrenal hyperplasia presenting as adrenal incidentaloma / 대한내과학회지

ABSTRACT

Congenital adrenal hyperplasia, an autosomal recessive disorder resulting from an enzymatic defect during cortisol biosynthesis (i.e., 21-hydroxylase deficiency), is characterized by impaired production of cortisol with or without impaired production of aldosterone, chronic stimulation of the adrenal cortex by corticotropin, and overproduction of cortisol precursors and androgens. The severity of the hormonal abnormalities and clinical symptoms depend on the degree of enzymatic activity. Phenotypes are classified into the following types the severe salt-wasting type, the simple virilizing type, and the non-classic type. Despite adequate treatment, patients may be at risk for salt-wasting adrenal crisis, precocious puberty, short stature, infertility, psychosocial problems, and tumor formation, including adrenal incidentaloma. Here we present a case of adrenal incidentaloma in a 14-year-old boy who was eventually diagnosed with congenital adrenal hyperplasia due to a 21-hydroxylase deficiency. The patient had a history of salt-wasting adrenal crisis, but survived without continuous glucocorticoid and mineralocorticoid treatment. Note also that both plasma aldosterone and plasma renin activity were elevated in this case.