Be aware of non-classical 21-hydroxylase deficiency and improve its treatment / 中华内分泌代谢杂志

ABSTRACT

Non-classical 21-hydroxylase deficiency(21OHD)is one of the most frequent autosomal recessive hereditary disease.Non-classical 21OHD is often underdiagnosed or misdiagnosed in patients with hyperandrogenemic symptoms(such as hirsutism,acne),menstrual disorder and infertility because of its moderate symptoms and hormonal abnormalities.However,the long-term healthy risks of non-classical 21OHD,such-as insulin resistance,dyslipidemia and cardiovascular diseases are clearly elevated.Basal and ACTH-stimulated 17- hydroxyprogesterone levels are quite helpful as a screening approach in diagnosis of non-classical 21OHD. Furthermore,non-classical 21OHD can be effectively treated with low-cost,therefore we should pay great attention to the diagnosis and treatment of non-classical 21OHD.