The discovery of thyroid hormone resistance 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. The medical team identified a rare hereditary condition coinciding with suspected Hashimoto's thyroiditis, a case that has been documented globally only in a very limited scope.

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

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

A study of family members also revealed other cases carrying the same genetic mutation to varying degrees, and they were monitored and appropriate treatment plans were established. This reflects the importance of genetic testing and family history in diagnosing and managing rare hereditary diseases early.

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

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