Case Report

A Rare Cause of Hypothalamic Obesity, Rohhad Syndrome: 2 Cases


  • Ülkü Gül Şiraz
  • Deniz Okdemir
  • Gül Direk
  • Leyla Akın
  • Nihal Hatipoğlu
  • Mustafa Kendırcı
  • Selim Kurtoğlu

Received Date: 11.01.2018 Accepted Date: 06.03.2018 J Clin Res Pediatr Endocrinol 0;0(0):0-0 [e-Pub] PMID: 29553042

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 has not been fully explained. Hypothalamic dysfunction causes endocrine problems, respiratory dysfunction and autonomic alterations. There are around 80 reported patients due to lack of recognition. We present two female patient suspected of ROHHAD due to weight gain since early childhood. The presented symptoms, respiratory and circulatory dysfunction, hypothalamic hypernatremia, hypothalamo-pituitary hormonal disorders such as santral hypothyrodism, hyperprolactinemia and santral early puberty are completely matched the criteria of ROHHAD syndrome. ROHHAD syndrome should be considered in differential diagnosis since it is difficult to distinguish from causes of monogenic obesity. Early identification of the disease reduces morbidity of the syndrome and patients require regular follow-up by a multidisciplinary approach.

Keywords: Rohhad Syndrome,hypothalamic dysfunction,endocrinological disorders