Rare genetic disease discovered in the world at the Central Endocrinology Hospital

After 2 years of treatment for hyperthyroidism but the disease did not improve, the 26-year-old female patient in Quang Ninh was diagnosed by the Central Endocrinology Hospital with thyroid hormone receptor resistance syndrome due to beta gene mutation - a rare genetic disease in the world.

Accurate diagnosis helps patients avoid pituitary tumor surgery and receive effective medical treatment.

The Central Endocrinology Hospital has just admitted a patient with LTHT (26 years old, in Quang Ninh ), who came for examination because of symptoms: anxiety, palpitations, and large goiter.

The patient had a history of hyperthyroidism and was treated for hyperthyroidism with synthetic antithyroid drugs at a local hospital for 2 years. However, the rapid heart rate and palpitations did not improve; the thyroid gland became increasingly enlarged despite regular treatment and examination.

Seeing something unusual, Ms. T. decided to go to a higher-level hospital for treatment. Here, she had an MRI scan of her brain, which discovered a pituitary tumor (3mm in diameter) and thought to be a pituitary tumor secreting thyroid-stimulating hormone (TSH), so she was assigned to have surgery in this direction.

Fearing having to go under the knife, Ms. T. decided to go to the Central Endocrinology Hospital to confirm her condition before surgery.

At the Central Endocrinology Hospital, she was tested, diagnosed, and tested genetically, and the results showed that she had beta-mutant thyroid hormone receptor antagonist syndrome - an autosomal dominant genetic disease, very rare not only in Vietnam but also in the world (incidence of about 1/40,000 newborns). According to statistics, the disease was first described in 1967, and there are very few clinical cases reported in the world.

After that, Ms. T. was advised to take her family to see a doctor and discovered that her biological mother also had this syndrome, but had cardiovascular complications causing heart failure and arrhythmia.

Dr. Lam My Hanh, Head of the Diabetes Department - Central Endocrinology Hospital, said that when suffering from this syndrome, patients are easily misdiagnosed with TSH-secreting pituitary adenoma or hyperthyroidism (Basedow), leading to ineffective treatment or unnecessary surgery, affecting the health and quality of life of the patient.

At the Diabetes Department - Central Endocrinology Hospital, the patient's medication and treatment method are adjusted accordingly. Currently, the patient's health has shown many positive improvements.

“For such 'rare' and 'special' cases as above, because the symptoms are not the same as other cases of hyperthyroidism, the monitoring and treatment process will also be different. At this time, it is necessary to require specialized endocrinology expertise to avoid treating the patient with the wrong regimen. If the treatment is not correct, the disease will not only show no signs of improvement but will also leave serious consequences for the patient,” Dr. Hanh emphasized.

According to Dr. Hanh, to avoid unfortunate consequences, patients need to go to specialized endocrinology hospitals for examination and consultation, to avoid wrong treatment, which can have long-term effects on health.

DO THOA

Source: https://nhandan.vn/phat-hien-ca-benh-di-truyen-hiem-gap-tren-the-gioi-tai-benh-vien-noi-tiet-trung-uong-post918133.html