Elevated Adrenocorticotropic Hormone-Stimulated 17-Hydroxypregnenolone/17-Hydroxyprogesterone in Japanese Children with Premature Pubarche, Hirsutism, Acne and/or Accelerated Growth

Nonclassical 3β-hydroxysteroid dehydrogenase deficiency (N3βHSDD) or nonclassica 121-hydroxylase deficiency (N21OHD) are considered to be one of the causes of premature pubarche (PP) and hirsutism, but the diagnostic criteria for N3βHSDD are not well established. Among 44 Japanese children with PP, hirsutism, acne and/or accelerate growth, 13 and elevated 60min ACTH-stimulated 17-hydroxypregnenolone (Δ5-17P)/17-hydroxyprogesterone (17-OHP), more than 2 SD above the mean of 31 other patients. Four had evevated 60 min Δ5-17P/17-OHP, more than 5 SD above the mean of 31 other patients. According to the stringent criteria, none had N3βHSDD. None had N21OHD. Less well defined criteria for diagnosing N3βHSDD may lead to overdiagnosis of this disease. It is not known whether this elevated ratio is a physiological or a pathological response.