Turner syndrome with primary hyperparathyroidism.

Area of Science:

• Endocrinology
• Genetics
• Bone Metabolism

Background:

• Turner syndrome is associated with various comorbidities, including osteoporosis, obesity, diabetes, hypothyroidism, and hypertension.
• These conditions are treatable, necessitating early identification and management in individuals with Turner syndrome.

Purpose of the Study:

• To report a case of Turner syndrome presenting with severe osteoporosis and hypercalcemia.
• To investigate the underlying cause of hypercalcemia and osteoporosis in this patient.
• To underscore the importance of considering primary hyperparathyroidism in the differential diagnosis for Turner syndrome patients with these symptoms.

Main Methods:

• Case report of a 23-year-old woman with Turner syndrome.
• Laboratory tests including serum calcium and parathyroid hormone levels.
• Dual-energy X-ray absorptiometry (DXA) for bone density assessment.
• Ultrasound and 99mTc scintigraphy for parathyroid gland evaluation.

Main Results:

• The patient presented with severe osteoporosis (z score, -3.5) and hypercalcemia.
• Elevated serum calcium and parathyroid hormone levels were detected.
• An adenoma of the right inferior parathyroid gland was identified.
• Post-adenoma excision, serum calcium and parathyroid hormone normalized.

Conclusions:

• Primary hyperparathyroidism, secondary to parathyroid adenoma, can occur in Turner syndrome.
• Hyperparathyroidism should be considered in the clinical evaluation of Turner syndrome patients presenting with severe osteoporosis and hypercalcemia.
• Prompt diagnosis and surgical intervention (adenoma excision) can effectively manage this comorbidity.