A very rare entity of diabetes insipidus associated with Edwards Syndrome

Demir N., Dogan M., Peker E., Bulan K., Tuncer O.

GENETICS RESEARCH, vol.95, no.4, pp.130-132, 2013 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 95 Issue: 4
  • Publication Date: 2013
  • Doi Number: 10.1017/s0016672313000165
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.130-132
  • Van Yüzüncü Yıl University Affiliated: Yes


Edwards syndrome is the second most commonly seen trisomy. It was first described by John Hamilton Edwards in 1960. Although most cases result in termination or foetal loss, live births have been documented in 5%. Edwards syndrome is characterized by multisystem anomalies, of which holoprosencephaly (HPE) is observed in 4-8% of cases. The clinical findings correspond to the degree of HPE malformation. Convulsions and endocrinopathies are among the severe clinical findings. The most common endocrinopathies are central diabetes insipidus (DI), hypothyroidism, hypocortisolism and growth hormone deficiency. The coexistence of holoproencephaly and DI in Edwards syndrome was discussed under the light of literature.