Merih Berberoğlu1, Zehra Aycan2, Gönül Öçal2, Martine Bégeot3, Danielle Naville3, Nejat Akar2, Pelin Adıyaman2, Olcay Evliyaoğlu2, Armelle Penhoat3
1Department of Pediatric Endocrinology, Ankara University Medical School, 59. Sokak, 10/6, Emek, Ankara, Turkey
2Department of Pediatric Endocrinology, Ankara University Medical School, Ankara, Turkey
3INSERM-INRA U-418, HospitalDebrousse, Lyon, France
Tóm tắt
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 and hypoglycemic convulsions. Cortisol response to exogenous ACTH is also absent. Unresponsiveness to ACTH may be due to a mutation in the ACTH receptor; sometimes no mutation is found. We discuss the clinical and laboratory findings and genetic studies in six patients with a diagnosis of FGD. A homozygous V142L mutation was detected in three of the patients and a homozygous D103N mutation was detected in two patients.
