Rohhad syndrome, a rare cause of hypothalamic obesity: Report of two cases

GÜL ŞİRAZ Ü., Ökdemir D., Direk G., Akın L., HATİPOĞLU N., Kendirci M., ...More

JCRPE Journal of Clinical Research in Pediatric Endocrinology, vol.10, no.4, pp.382-386, 2018 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 10 Issue: 4
  • Publication Date: 2018
  • Doi Number: 10.4274/jcrpe.0027
  • Journal Name: JCRPE Journal of Clinical Research in Pediatric Endocrinology
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.382-386
  • Keywords: Endocrinological disorders, Hypothalamic dysfunction, ROHHAD syndrome
  • Ondokuz Mayıs University Affiliated: No


Rapid-onset obesity with hypoventilation, hypothalamic dysfunction and autonomic dysregulation (ROHHAD) syndrome is a rare disease that is difficult to diagnosis and distinguish from genetic obesity syndromes. The underlying causes of the disease have not been fully explained. Hypothalamic dysfunction causes endocrine problems, respiratory dysfunction and autonomic alterations. Currently there are around 80 reported patients although this is likely due to underdiagnosis due to lack of recognition. We present two female patients suspected of ROHHAD due to weight gain starting in early childhood. Clinical and biochemical findings such as respiratory and circulatory dysfunction, hypothalamic hypernatremia, central hypothyrodism, hyperprolactinemia and central early puberty in these patients matched the criteria for ROHHAD syndrome. ROHHAD syndrome should be considered in the differential diagnosis of monogenic obesity.