Types 1 diabetes mellitus and Graves' disease in Sanjad-Sakati syndrome: a case report in Saudi Arabia.
- 1College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
- 2Pediatric Endocrinology Department, Obesity, Endocrine and Metabolism Center, King Fahad Medical City, Riyadh, Saudi Arabia.
Abstract
Sanjad-Sakati syndrome (SSS) is a rare autosomal recessive disorder caused by TBCE gene variants and characterized by congenital hypoparathyroidism, severe growth retardation, developmental delay, and dysmorphic features. We report a nine-year-old Saudi boy with genetically confirmed SSS due to a homozygous 12-bp deletion in exon 3 of the TBCE gene (c.155_166del12bp; p.S52_G55del), who presented with hypocalcemic convulsions at three weeks of age. At three years, he developed type 1 diabetes mellitus (T1DM) with profound insulin deficiency and positive anti-islet cell and anti-GAD-65 antibodies. At four years, he developed Graves' disease, confirmed by hyperthyroidism, positive TSH receptor antibodies, and increased thyroid vascularity, followed by hypothyroidism requiring levothyroxine. Severe bilateral medullary nephrocalcinosis was also identified. This case highlights the unusual coexistence of TBCE-related SSS, autoimmune T1DM, and Graves' disease, raising the possibility of potential immune dysregulation, although causality cannot be established. Longitudinal endocrine surveillance, particularly of thyroid function, may be warranted in patients with SSS.
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BibTeX
@article{almasri2026types,
title = {{Types 1 diabetes mellitus and Graves' disease in Sanjad-Sakati syndrome: a case report in Saudi Arabia.}},
author = {Ghada Almasri and Alaa Ahmed Almubayedh and Maryam Zaitoun and Nawal Almutairi and Abdulhameed Alsaheel},
journal = {Frontiers in endocrinology},
year = {2026},
month = sep,
doi = {10.3389/fendo.2026.1920847},
url = {https://europepmc.org/article/MED/42876469},
note = {CC BY},
}
RIS
TY - JOUR
TI - Types 1 diabetes mellitus and Graves' disease in Sanjad-Sakati syndrome: a case report in Saudi Arabia.
AU - Ghada Almasri
AU - Alaa Ahmed Almubayedh
AU - Maryam Zaitoun
AU - Nawal Almutairi
AU - Abdulhameed Alsaheel
PY - 2026
DA - 2026/09/30
JO - Frontiers in endocrinology
DO - 10.3389/fendo.2026.1920847
UR - https://europepmc.org/article/MED/42876469
AB - Sanjad-Sakati syndrome (SSS) is a rare autosomal recessive disorder caused by TBCE gene variants and characterized by congenital hypoparathyroidism, severe growth retardation, developmental delay, and dysmorphic features. We report a nine-year-old Saudi boy with genetically confirmed SSS due to a homozygous 12-bp deletion in exon 3 of the TBCE gene (c.155_166del12bp; p.S52_G55del), who presented with hypocalcemic convulsions at three weeks of age. At three years, he developed type 1 diabetes mellitus (T1DM) with profound insulin deficiency and positive anti-islet cell and anti-GAD-65 antibodies. At four years, he developed Graves' disease, confirmed by hyperthyroidism, positive TSH receptor antibodies, and increased thyroid vascularity, followed by hypothyroidism requiring levothyroxine. Severe bilateral medullary nephrocalcinosis was also identified. This case highlights the unusual coexistence of TBCE-related SSS, autoimmune T1DM, and Graves' disease, raising the possibility of potential immune dysregulation, although causality cannot be established. Longitudinal endocrine surveillance, particularly of thyroid function, may be warranted in patients with SSS.
SN - 1664-2392
ER -