Syndrome of congenital adrenocortical unresponsiveness to ACTH. Report of six patients

BERBEROĞLU M., AYCAN Z., Ocal G., Begeot M., Naville D., Akar N., ...More

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.14, no.8, pp.1113-1118, 2001 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 14 Issue: 8
  • Publication Date: 2001
  • Journal Name: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.1113-1118
  • Keywords: glucocorticoid deficiency, syndrome, hyperpigmentation, hypoglycemia, mutation, FAMILIAL GLUCOCORTICOID DEFICIENCY, FUNCTIONAL-CHARACTERIZATION, RECEPTOR, MUTATION, GENE, INSENSITIVITY, ACHALASIA
  • Ankara University Affiliated: Yes

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.