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Syndrome of Congenital Adrenocortical Unresponsiveness to ACTH. Report of Six Patients
-
Merih Berberoglu
,
Zehra Aycan
Published/Copyright:
October 11, 2016
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.
Published Online: 2016-10-11
Published in Print: 2001-9-1
© 2016 by Walter de Gruyter Berlin/Boston
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Keywords for this article
glucocorticoid deficiency;
syndrome;
hyperpigmentation;
hypoglycemia;
mutation
Articles in the same Issue
- Titelei
- Table of Contents
- Doping with Growth Hormone
- Intrauterine Diabetic Environment Confers Risks for Type 2 Diabetes Mellitus and Obesity in the Offspring, in Addition to Genetic Susceptibility
- Variable Presentation of X-linked Adrenal Hypoplasia Congenita
- Sustained Benefits of Growth Hormone on Body Composition, Fat Utilization, Physical Strength and Agility, and Growth in Prader-Willi Syndrome are Dose-Dependent
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