ESPE2024 Free Communications Multisystem Endocrine Disorders (6 abstracts)
Comprehensive analysis of disease spectrum and mortality in Sanjad-Sakati Syndrome: A Rare Disease Perspective
Angham Almutair 1,2,3 , Katharina Tischlinger 4 , Abdlmajeed Al Subaihin 5 , Omar Al Dibasi 3 , Suliman Al Ghanam 3 , Hadeel Ghamdi 6 , Maali Melha 1 , Aisha Alanazi 7 , Abdulaziz AlSaedi 8 , Enad Althobaiti 8 , Aisha Al Senani 9 , Hanan Al Azkawi 9 , Ayed Al Enezi 10 , Ayman Bakkar 8 , Ahmed Ali 10 , Fahad Al Juraibah 1,2,3 , Saif Alyaarubi 11 , Afaf Al Sagheir 6 & Wolfgang Hogler 4
1King Abdullah specialzed children hospital, Riyadh, Saudi Arabia. 2KSAU-HS, Riyadh, Saudi Arabia. 3KAMIRC, Riyadh, Saudi Arabia. 4Johannes Kelpier university, linz, Austria. 5king saud university, riyadh, Saudi Arabia. 6kfshrc, Riyadh, Saudi Arabia. 7PSMMC, Riyadh, Saudi Arabia. 8alhada armed forces hospital, Taif, Saudi Arabia. 9Royal hospital, Musact, Oman. 10Al Jahra Hopsital, Kuwait, Kuwait. 11Oman Medical Spciality Board, Musact, Oman
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 features, cause of death and current management practices in a large multicentre rare disease survey.
Method: Clinical and genetic data from individuals managed in centers from the Gulf region were included in a RedCap survey (IRB Nr. NRC21R/319/07). Diagnosis was based on genetic and/or typical clinical criteria. Data including demography, growth, management practices, phenotypic features and cause of death were collected using a custom-made case report form uploaded into REDCap.
Result: 136 children (67 male [49.26 %]) were recruited Median age of participants at the time of enrolment was 9.1 years (0 month – 30 years). Molecular genetic testing confirmed the typical homozygous TBCE founder mutation (c.155_166del; p.Ser52-Gly55del) in all tested participants (69/69). Growth retardation was symmetrically evident from birth, with mean birth weight and length less than -3 SDS and mean head circumference less than -2 SDS (WHO growth reference). Dysmorphic features were highly prevalent in this cohort. Most common were deep seated eyes (92.7%), low set ears (87%), beaked nose and small hands - feet (79.4 %). Recorded endocrine features were hypoparathyroidism (100% of patients), thyroid disease (16.2%), growth hormone deficiency (8.1%), hypoglycaemia requiring therapy (27.8%), non-autoimmune insulin dependent diabetes (1.5 %) and adrenal insufficiency requiring hydrocortisone treatment (2.9 %). Phenotypic features of other systems included neurological symptoms (47.1%), GIT system involvement, specifically GERD (27.2%), respiratory involvement (37.5%), recurrent bacterial infections (50%) and confirmed immune deficiency (2.9%). Radiological findings demonstrated nephrocalcinosis (69.5%), and pituitary hypoplasia (61% of 11 pts) and thin corpus callosum (77 % of 14 pts). The mortality rate was 18% with respiratory failure as the underlying cause of death in 75% of patients, followed by septic shock (21%). There was no association between death and birth anthropometry, hypocalcaemic seizures, GERD or nephrocalcinosis.
Conclusion: This is the largest cohort of patients with SSS reported to date. Our phenotypic data confirm a high prevalence of associated endocrine, respiratory and gastrointestinal disease features. The main reported causes of death were respiratory failure or septic shock. Based on our data, we propose management guidelines for long term follow up and multidisciplinary tertiary care.
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