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Dergiler / Journal of Clinical Research in Pediatric Endocrinology / 2018 / Cilt: 10 - Sayı: 4

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

Ülkü Gül ŞİRAZ
Deniz OKDEMİR
Gül DİREK
Leyla AKIN
NİHAL HATİPOĞLU
MUSTAFA KENDİRCİ
Sayfa
382–386
DOI
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⚡ TL;DR(1 Cümlede Hızlı Çıkarım)

ROHHAD syndrome should be considered in the differential diagnosis of monogenic obesity.

📌 3 Maddede Bu Makale

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Amaç & Hipotez: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.
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Temel Bulgular & Veri:Currently there are around 80 reported patients although this is likely due to underdiagnosis due to lack of recognition.
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Sonuç & Katkı:ROHHAD syndrome should be considered in the differential diagnosis of monogenic obesity.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri

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.

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Bu Makaleye Atıf Yap

ŞİRAZ, Ü. G., OKDEMİR, D., DİREK, G., AKIN, L., HATİPOĞLU, N., KENDİRCİ, M. (2018). ROHHAD Syndrome, a Rare Cause of Hypothalamic Obesity: Report of Two Cases. Journal of Clinical Research in Pediatric Endocrinology, Cilt: 10 - Sayı: 4, 382–386. https://ajindex.com/articles/201724

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Kaynakça (6)

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