Basal 17-OHP plasma level ≥2 ng/mL predicted late-onset congenital adrenal hyperplasia with 100% sensitivity and 99% specificity in patients with premature pubarche.
Precocious pubarche is defined as the onset of pubic hair before age 8 in girls and before age 9 in boys; it is caused by late-onset congenital adrenal hyperplasia (LO-CAH) in as many as 20% of cases and is associated with benign premature adrenarche in the remainder. Currently, diagnosis of LO-CAH requires a full day for adrenocorticotropic hormone (ACTH) stimulation testing and multiple blood samples. To help avoid the cost and stress of ACTH stimulation tests, researchers sought to identify clinical and biochemical markers of LO-CAH in a retrospective chart review of 238 patients (75% girls) with precocious pubarche at a hospital-based pediatric endocrinology clinic in Paris.
Ten patients had LO-CAH confirmed by gene mutation analysis, an…