Jazan Health: Advanced Diagnostic Capabilities

Advanced diagnostic capabilities at the Endocrinology and Diabetes Center

The discovery of resistance to thyroid hormone associated with the THRB gene in a patient who visited the Endocrinology and Diabetes Center, a component of the Jazan Health Cluster, marked a turning point in diagnosis, after the medical team identified a rare genetic condition coinciding with suspected Hashimoto's autoimmune thyroiditis, a case documented only in a very limited scope worldwide.

The diagnostic journey began with a review of a patient suffering from chronic fatigue and cold intolerance, while test results did not align with the typical picture of thyroid diseases, and the patient could not continue previous treatment due to side effects, necessitating a comprehensive and accurate reassessment of his condition.

The medical team relied on a review of the patient's medical and family history, along with advanced genetic tests, until reaching the final diagnosis. A gradual treatment plan was then developed that took into account the patient's clinical condition, contributing to the stabilization of his health and improvement of symptoms without recording complications.

A study of family members revealed other cases carrying the same genetic mutation to varying degrees, and they were followed up and given appropriate treatment plans, reflecting the importance of genetic testing and family history in diagnosing and early managing rare genetic diseases.

This work culminated in the preparation of a scientific report documenting the case, adding new evidence to the global medical literature on the rare coexistence of THRB-associated thyroid hormone resistance and Hashimoto's disease, while also highlighting the advanced diagnostic capabilities provided by the Jazan Health Cluster.