Bo Bo San, Khin Saw Than, Moe Wint Aung
Case Summary
Primary hyperparathyroidism (PHPT) is uncommon in young patients. We report a case of a 17-year-old male who presented with sudden fractures and a history of recurrent renal stones. Investigations revealed severe hypercalcemia, hypophosphatemia, vitamin D deficiency, and elevated parathyroid hormone (PTH) levels due to a parathyroid adenoma. The patient required urgent management of hypercalcemia, followed by parathyroidectomy and surgical stabilization of a femoral fracture. He showed good recovery, with improved mobility and bone healing at one year follow-up. This case highlights the importance of early recognition and multidisciplinary management of PHPT in young patients.
Introdution
Primary hyperparathyroidism is characterized by excessive secretion of PTH, resulting in hypercalcemia, renal calculi, and skeletal complications. It is rare in adolescents but can present with severe and disabling features. Here, we present a young patient with PHPT who developed pathological fractures and recurrent renal stones, successfully managed with surgical and supportive measures.
Case Presentation
A 17-year-old male presented on 27 April 2018 after falling while climbing a 6-inch step. He experienced sudden weakness and pain in his left thigh, followed by a fall onto his right side, injuring his right arm. He was unable to stand due to pain and swelling.
Past History
Recurrent bilateral renal stones (first episode: November 2017; second: March 2018). – No work-up was done for etiology at that time.
Examination Findings
– Examination revealed a 1.5 cm swelling in the right lower neck.
– Swelling and tenderness in left thigh and right arm – Restricted movement of affected areas – Pathological fractures confirmed by X-rays (Figure 1)
Fig1. X-rays of right arm and left thigh fractures.
Investigations
Baseline blood tests (27.4.2018) :
- Calcium: 14.8 mg/dL (normal: 8.4-10.2)
- Phosphate: 0.62 mmol/L (low)
- Alkaline phosphatase: 2140 U/L (very high)
- CBC: mild neutrophil leukocytosis
- Renal function: normal
Repeat blood tests (28.4.2018) :
- Calcium: 15.8 mg/dL
- Intact PTH: 1245 pg/ml (normal: 15-65)
- Vitamin D: 19.38 nmol/L (severe deficiency)
Imaging :
- USG (Neck) – Well defined (1.7 × 1.9 cm) hypoechoic cystic solid nodule posterior and inferior to the right lobe of thyroid; parathyroid nodule is most likely.
- Tc-99m MIBG SPECT/CT scan: Right parathyroid adenoma (Figure 2).
Fig 2. Tc-99m MIBG scan showing right parathyroid adenoma.
Summary of Problems :
- Severe hypercalcemia
- Multiple pathological fractures
- Recurrent renal stones
- Right parathyroid adenoma
- Severe vitamin D deficiency
Management
Step 1: Medical stabilization of hypercalcemia
- Aggressive hydration with IV saline (3-4 L/day)
- IV zoledronic acid infusion (5 mg)
- SC calcitonin (100 IU, 12 hourly for 2 days)
- Cinacalcet (30 mg twice daily)
Step 2: Surgical management
- Right parathyroidectomy (11.5.2018) – confirmed parathyroid adenoma.
- Closed nailing of left femur fracture (15.5.2018) for stabilization and mobilization.
Fig. 3: Parathyroid adenoma, right inferior.
Step 3: Post-operative care
- Developed hypocalcemia after surgery.
- Managed with IV calcium gluconate, oral calcium supplements (Calcivita forte), calcitriol, and magnesium.
- Doses adjusted based on serial calcium, phosphate, and magnesium levels.
Outcome and Follow-Up
The patient made a gradual recovery.
- Mobilized fully by 6 months.
- At 1-year follow-up:
- X-rays showed well-healed fractures (Figure 4).
- DXA scan showed improved bone density.
- Serum calcium normalized (Figure 5).
- Continued on oral calcium and vitamin D with regular monitoring of calcium and intact PTH.
Fig 4: Post-operative X-ray images at 1-year follow-up.
Fig 5: Trend of serum calcium levels during treatment and follow-up.
Table 1: Serial serum intact PTH, ALKAPO4 & 25 OH Vitamin D levels before and after treatment.
Discussion
PHPT is rare in adolescents but can present dramatically with skeletal and renal complications. In this case, recurrent kidney stones were the first sign but were not investigated, leading to delayed diagnosis. Severe hypercalcemia posed both medical and anesthetic challenges, requiring careful stabilization before surgery. Post-parathyroidectomy hypocalcemia (‘hungry bone syndrome’) was managed successfully with supplements.
This case emphasizes the importance of early evaluation of renal stones in young patients and considering endocrine causes. Multidisciplinary management ensured a favorable long-term outcome.
Conclusion
Primary hyperparathyroidism, though uncommon in young patients, can cause severe complications such as fractures and hypercalcemic crisis. Early recognition, stabilization, and surgical treatment lead to excellent recovery.
Reference
Bilezikian, J.P., Khan, A.A., Silverberg, S.J., El-Hajj Fuleihan, G., Marcocci, C., Minisola, S., Perrier, N., Sitges-Serra, A., Thakker, R.V., Guyatt, G., Mannstadt, M., Potts, J.T., Clarke, B.L. and Brandi, M.L., (2016). Evaluation and management of primary hyperparathyroidism: summary statement and guidelines from the Fifth International Workshop. Journal of Clinical Endocrinology & Metabolism, 101(10), pp.3991-4014.
Author Information
Bo Bo San, Khin Saw Than, Moe Wint Aung.
- Department of Endocrinology, University of Medicine 1, Yangon
- Retired Professor and Head of Department of Endocrinology, University of Medicine 1, Yangon
- Rector, University of Medicine 2, Yangon
