گزارش يك مورد شكل غير كلاسيك كمبود 3- بتاهيدروكسي استروييددهيد روژناز

A case report on nonclassical 3Beta-Hydroxysteroid dehydrogenase deficiency

Precocious pubarche, characterized by appearance of pubic hair before 8 years in girls and 9 years in boys, is most often a benign condition secondary to the early maturation of the adrenal cortex which is called precocious adrenarche. However, Precocious pubarche may be a manifestation of nonclassical adrenal hyperplasia, especially 21-hydroxylase deficiency and 3Beta-hydroxysteroid dehydrogenase deficiency, which require early diagnosis and special treatment. Today nonclassical 3Beta-hydroxysterioid dehydrogenase deficiency (NC3HSD) is being diagnosed with increasing frequency as a cause of precocious pubarche. in this article we report an 8- year - old boy with precocious pubarche and rapid growth progressive bone maturation (without other signs of puberty) due to NC3HSD. The diagnosis was based on significantly increased level of DHEA and ratios of 17-hydroxypregnenolon to 17-hydroxyprogesterone and of dehydroepiandrosterone to androstenedione after administration of ACTH. Thus, in spite of the fact that premature adrenarche is the most common cause of precocious pubarche, ACTH test must be performed for subjects in whom a rapid growth and progressive bone maturation is observed to diagnose NC3HSD that requires special treatment.