Allgroves or 4A syndrome is a rare autosomal recessive multisystem disorder characterised by adrenocorticotropin hormone resistant adrenal insufficiency,alacrima ,achalasia and neurological abnormalities. The disease-causing gene (AAAS) encodes a protein of 546 amino acids called aladin (for alacrima-achalasia-adrenal insufficiency-neurologic disorder). We report two siblings and three cousins suffering from Allgrove syndrome in a Turkish family. In this family, a novel homozygous mutation (p.L356Vfs*8, c.1066_1067delCT) in exon 11 in the AAAS gene was identified in all affected family members. Family report: A 13-year-old female was admitted to our department with the complaint of fatigue and hyperpigmentation. According to the family history, she had been followed with adrenal insufficiency from 8 months old, then after 3 years of the first diagnosis she had presented with achalasia, alacrima and psychomotor developmental delay. Laboratory examinations were as follows: Serum ACTH >1200 pg/ml, basal kortisol <1 μg/dl, and she had been followed with the diagnosis of triple A syndrome since three years of age. The family history revealed that her brother (7 years 4 months old age) has been followed with adrenal insufficiency, alacrima, achalasia and developmental delay for 3 years. Their cousins are 7 and 12 years age of female, they have also been followed with the same physical and laboratory findigns since 5 years of age. Genetic analysis showed a novel homozygous mutation (p.L356Vfs*8 (c.1066_1067delCT) in exon 11 in the AAAS gene in both siblings and their cousins. This mutation was not reported before. Parents were heterozygous for this mutation.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology