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hrp0098fc10.6 | Multisystem Endocrine Disorders | ESPE2024

Comprehensive analysis of disease spectrum and mortality in Sanjad-Sakati Syndrome: A Rare Disease Perspective

Almutair Angham , Tischlinger Katharina , Al Subaihin Abdlmajeed , Al Dibasi Omar , Al Ghanam Suliman , Ghamdi Hadeel , Melha Maali , Alanazi Aisha , AlSaedi Abdulaziz , Althobaiti Enad , Al Senani Aisha , Al Azkawi Hanan , Al Enezi Ayed , Bakkar Ayman , Ali Ahmed , Al Juraibah Fahad , Alyaarubi Saif , Al Sagheir Afaf , Hogler Wolfgang

Introduction: Sanjad-Sakati-Syndrome (SSS), or hypoparathyroidism-retardation-dysmorphism syndrome (HRDS), is primarily observed in individuals of Middle Eastern descent due to a recessive founder mutation in exon 3 of the TBCE gene. Little is known about disease evolution, endocrine features, management and cause of early death.Aim: To gain better understanding of growth, full phenotypic spectrum, endocrine fea...

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Comprehensive analysis of disease spectrum and mortality in Sanjad-Sakati Syndrome: A Rare Disease Perspective

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