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J Clin Res Pediatr Endocrinol. 2018 Nov 29;10(4):382-386. doi: 10.4274/jcrpe.0027. Epub 2018 Mar 19.

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

Author information

1
Erciyes University Faculty of Medicine, Department of Pediatric Endocrinology, Kayseri, Turkey

Abstract

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

PMID:
29553042
PMCID:
PMC6280328
DOI:
10.4274/jcrpe.0027
[Indexed for MEDLINE]
Free PMC Article

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