Premature Pubarche: Time to Revise the Diagnostic Approach?

Area of Science:

• Pediatric Endocrinology
• Endocrinology
• Genetics

Background:

• Premature pubarche (PP) is a common pediatric endocrine concern.
• Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NC21OHD) is a potential underlying cause of PP.
• The diagnostic utility of ACTH stimulation testing for NC21OHD in PP patients has been debated.

Purpose of the Study:

• To retrospectively evaluate the predictive value of basal androgen levels and auxological features for identifying NC21OHD in patients with PP.
• To determine which clinical and biochemical markers can reliably indicate the need for ACTH testing.

Main Methods:

• Retrospective analysis of 111 patients (87 female) with PP and advanced bone age who underwent ACTH testing.
• Measurement of basal serum levels of 17-hydroxyprogesterone (17-OHP), dehydroepiandrosterone (DHEA), dehydroepiandrosterone sulfate (DHEA-S), delta 4 androstenedione (Δ4A), and testosterone.
• Assessment of auxological features, including bone age advancement.

Main Results:

• Only 6 out of 111 patients were diagnosed with NC21OHD.
• Patients with NC21OHD exhibited significantly higher mean basal levels of 17-OHP, DHEA, DHEA-S, Δ4A, and testosterone.
• A basal 17-OHP level >200 ng/mL showed high sensitivity (83.3%) and specificity (97.1%) for predicting NC21OHD.

Conclusions:

• The prevalence of NC21OHD among patients presenting with PP is low.
• Basal 17-OHP levels >200 ng/mL are a valuable screening tool to identify PP patients who require ACTH testing.
• Bone age advancement alone is not a sufficiently specific predictor of NC21OHD.