Syndrome of Congenital Adrenocortical Unresponsiveness to ACTH. Report of Six PatientsJournal of Pediatric Endocrinology and Metabolism - Tập 14 Số 8 - Trang 1113-1118 - 2001
Merih Berberoğlu, Zehra Aycan, Gönül Öçal, Martine Bégeot, Danielle Naville, Nejat Akar, Pelin Adıyaman, Olcay Evliyaoğlu, Armelle Penhoat
Abstract
Familial glucocorticoid deficiency (FGD) or unresponsiveness to ACTH at the receptor level is a rare autosomal recessive hereditary syndrome characterized by a low cortisol level despite high serum ACTH concentration. Aldosterone levels are normal. The clinical entity generally presents in the first year of life with skin hyperpigmentation ...... hiện toàn bộ