ROHHAD Syndrome, a Rare Cause of Hypothalamic Obesity: Report of Two Cases

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Gül Siraz Ü., Okdemir D., Direk G., Akin L., Hatipoğlu N., Kendirci M., ...Daha Fazla

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, cilt.10, sa.4, ss.382-386, 2018 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 10 Sayı: 4
  • Basım Tarihi: 2018
  • Doi Numarası: 10.4274/jcrpe.0027
  • Dergi Adı: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.382-386
  • Anahtar Kelimeler: ROHHAD syndrome, hypothalamic dysfunction, endocrinological disorders, RAPID-ONSET OBESITY, HYPOVENTILATION, DYSFUNCTION, MUTATION
  • Erciyes Üniversitesi Adresli: Evet

Özet

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.