Introduction: Multiple endocrine neoplasia type 2A is a genetic disease with autosomal dominant inheritance, related to proliferative lesions in the thyroid gland, adrenal medulla and parathyroid glands.
Materials and Methods: We present a case report of a 49-year-old man with complaints of weakness, difficult concentration, fatigue, dizziness and hypertensive crises with blood pressure of 190/120 mmHg. After the establishment of elevated levels of metanephrine and normetanephrine, abdominal CT was performed and it detected a lesion in the adrenal glands. Ultrasound of the neck established an enlarged size of the thyroid gland with a hypoechogenic zone in the right lobe and calcifications. According the elevated levels of calcitonin and suspicions of medullary thyroid carcinoma (MTC), fine-needle aspiration (FNA) biopsy was performed and it confirmed the diagnosis. The patient underwent consequently right and left adrenalectomy, followed by total thyroidectomy with lymph node dissection. Based on the ongoing elevated levels of calcitonin and evidences for a relapse of the disease in the thyroid gland, diagnosed with ultrasound and positron emission tomography (PET/CT), the patient underwent reoperation and radiotherapy.
Results: Genetic examination was performed and mutation in the RET protooncogene (PCYS634TRP) in 10th chromosome was established. The same mutation was detected in both brothers of the patient, as well as their children.
Conclusion: Sipple syndrome is a condition rarely encountered in practice and it is presented with different penetrance. Based on the type of inheritance of the disease, genetic analysis is recommended for other members of the family, as well as DNA analysis of risk individuals. Genetic carriers of the mutation are recommended for elective thyroidectomy and a follow-up with biochemical and hormonal tests, the same is recommended for other individuals from the family.
