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

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

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.14, sa.8, ss.1113-1118, 2001 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 14 Sayı: 8
  • Basım Tarihi: 2001
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1113-1118
  • Anahtar Kelimeler: glucocorticoid deficiency, syndrome, hyperpigmentation, hypoglycemia, mutation, FAMILIAL GLUCOCORTICOID DEFICIENCY, FUNCTIONAL-CHARACTERIZATION, RECEPTOR, MUTATION, GENE, INSENSITIVITY, ACHALASIA
  • Ankara Üniversitesi Adresli: Evet

Özet

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.