Work

Types 1 diabetes mellitus and Graves’ disease in Sanjad-Sakati syndrome: a case report in Saudi Arabia

Year: 2026

Type: article

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.

Source: Frontiers in Endocrinology

DOI: 10.3389/fendo.2026.1920847

Authors: Ghada Almasri, Alaa Ahmed Almubayedh, Maryam Zaitoun, Nawal Almutairi, Abdulhameed Alsaheel

Institutions: Alfaisal University, King Fahd Medical City

Language: English

Topic: Diabetes and associated disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,801