Rare Hashimoto’s diagnosis in Jazan leads to discovery of THRB gene mutation

The discovery of thyroid hormone resistance linked to the THRB gene in a patient at the Endocrinology and Diabetes Center, part of the Jazan Health Cluster, marked a turning point in diagnosis. The medical team identified a rare genetic condition coinciding with suspected autoimmune Hashimoto’s thyroiditis—a combination documented globally in only a very limited number of cases.

The diagnostic journey began when a patient presented with chronic fatigue and intolerance to cold, while test results did not match the typical profile of thyroid disorders. The patient was also unable to continue previous treatments due to side effects, prompting a comprehensive and thorough reassessment of the case.

The medical team relied on a review of the patient’s medical and family history, along with advanced genetic testing, to reach a final diagnosis. A gradual treatment plan was then developed based on the patient’s clinical condition, resulting in stabilized health and improved symptoms without complications.

Family studies revealed other members carrying the same genetic mutation to varying degrees, who were subsequently monitored and provided with appropriate treatment plans. This highlights the importance of genetic testing and family history in diagnosing and managing rare hereditary diseases early.

The case has been documented in a scientific report, adding new evidence to global medical literature on the rare coexistence of THRB gene-related thyroid hormone resistance and Hashimoto’s disease. It also underscores the advanced diagnostic capabilities available at the Jazan Health Cluster.