ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume: 16 Issue: 1 Year: 2024
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Turkish Society for Pediatric Endocrinology and Diabetes
ROHHAD Syndrome, a Rare Cause of Hypothalamic Obesity: Report of Two Cases [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2018; 10(4): 382-386 | DOI: 10.4274/jcrpe.0027

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

Ülkü Gül Şiraz1, Deniz Ökdemir1, Gül Direk1, Leyla Akın1, Nihal Hatipoğlu1, Mustafa Kendirci1, Selim Kurtoğlu1
Erciyes University Faculty of Medicine, Department of Pediatric Endocrinology, Kayseri, Turkey

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.

Keywords: ROHHAD syndrome, hypothalamic dysfunction, endocrinological disorders

Ülkü Gül Şiraz, Deniz Ökdemir, Gül Direk, Leyla Akın, Nihal Hatipoğlu, Mustafa Kendirci, Selim Kurtoğlu. ROHHAD Syndrome, a Rare Cause of Hypothalamic Obesity: Report of Two Cases. J Clin Res Pediatr Endocrinol. 2018; 10(4): 382-386
Manuscript Language: English
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