Comprehensive Analysis of Disease Spectrum and Mortality in Sanjad-Sakati Syndrome: An International Rare Disease Registry Study
Clicks: 1
ID: 316861
2026
Article Quality & Performance Metrics
Overall Quality
Not rated
Combines reader engagement with the AI quality analysis. This
article has not been analysed, so there is no overall score —
reader engagement is measured and shown alongside.
Reader Engagement
0.0
/100
1 views
0 readers
AI Quality Assessment
Not analyzed
Readership in this journal
Ranked #344 of 362 articles by views in the journal of clinical endocrinology & metabolism
Most read
Least read
Bar heights use a square-root scale. Only the 120 most-read articles are drawn; the journal has 362 in total.
Mint this article as an NFT
Not yet mintedCreate a permanent, verifiable on-chain record of this article on the Scimatic Network. The NFT is held in your Journament account, and you can withdraw it to your own wallet at any time.
5
SUSD
one-off · no wallet required
Abstract
BACKGROUND: Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism-intellectual disability-dysmorphism syndrome, is a rare autosomal recessive disorder caused by a TBCE founder mutation. The full disease spectrum remains poorly understood. AIM: To comprehensively analyze growth, phenotype, endocrine manifestations, and mortality in a large multicenter SSS cohort. METHODS: Clinical and genetic data were collected from 135 individuals across centers in the Gulf region using a REDCap survey. RESULTS: The median age at inclusion was 9.1 years (range: birth-30 years; 50.3% female). The homozygous TBCE founder mutation (c.155_166del; p.Ser52_Gly55del) was detected in all genetically tested individuals (n = 68). Intrauterine growth restriction (mean birth weight -3.0 SD, length -3.3 SD) and dysmorphic features were universal. Postnatal growth showed severe failure to thrive during infancy, followed by persistently low height z-scores (-7 to -8). Endocrine features included hypoparathyroidism in all patients, primary hypothyroidism (16.5%), hypoglycemia (27.8%), non-autoimmune insulin-dependent diabetes (1.6%) and pituitary hormone deficiencies. Other findings included developmental delay (100%), hypocalcemic seizures (64.2%), tetany (53.3%), nephrocalcinosis (62.1%), gastroesophageal reflux (29.1%), and recurrent respiratory (63.7%) and bacterial infections (53.8%). Antibiotic prophylaxis was used in 35% of patients. Kaplan-Meier analysis estimated a median survival of 27.2 years, with respiratory failure causing 84% of deaths (21/25). The estimated overall survival at an age of 18 years was 62.4%. CONCLUSION: This largest reported SSS cohort highlights the high prevalence of associated endocrine, respiratory, and gastrointestinal manifestations, with respiratory failure as the leading cause of death. These data support the need for multidisciplinary care guidelines.
| Reference Key |
openalex_W7164138461
Use this key to autocite in the manuscript while using
SciMatic Manuscript Manager or Thesis Manager
|
|---|---|
| Authors | Angham Al Mutair, Katharina Karas, Abdlmajeed Al Subaihin, Omar Al Dibasi, Maali Melha, Hadeel AL-Ghamdi, Badri Yadav, Suliman Alghnam, Aisha Alanazi, Abdulaziz Alsaedi, Enad Althobaiti, Aisha Al Senani, Hanan Al Azkawi, Ayed Al Enezi, Ayman Bakkar, Ahmed Ali, Fahad Al Juraibah, Saif Alyaarubi, Afaf Al Sagheir, Wolfgang Högler |
| Journal | the journal of clinical endocrinology & metabolism |
| Year | 2026 |
| DOI |
10.1210/clinem/dgag226
|
| URL | |
| Keywords | Keywords not found |
Citations
No citations found. To add a citation, contact the admin at info@scimatic.org
Comments
No comments yet. Be the first to comment on this article.