Primary hyperparathyroidism (PHPT) is rare in pregnancy. This condition is challenging to diagnose and manage due to the limited diagnostic and therapeutic options that are safe during pregnancy. If not diagnosed and managed in a timely manner, serious maternal and foetal complications may occur. We report two cases, one with surgical intervention and one without, to show the importance of timely surgical intervention and discuss the challenges in the management of PHPT in pregnancy.
Hyperparathyroidism, Primary ; Pregnancy

Primary hyperparathyroidism (PHPT) in adolescents is rare and has severe manifestations as compared to adults. Skeletal involvement in primary hyperparathyroidism in the form of deformities like genu valgus, genu varus and cubitus varus is rare and limited to case reports and case series. There is only one case of genu varus with genu valgus on the contralateral extremity (windswept deformity) that has been reported to date in the literature. We report the case of a 19-year-old male who presented with isolated progressive bending of his legs at the knee (windswept deformity) for three years. He was found to have hypercalcemia, hypophosphatemia, high alkaline phosphatase, high intact parathyroid hormone (iPTH), normal 25-hydroxy vitamin D level and a normal kidney function test. A diagnosis of primary hyperparathyroidism was made. On imaging studies, a left inferior parathyroid adenoma was localized and was successfully removed surgically. Serum calcium and iPTH normalized post-operatively. The patient is being planned for corrective osteotomy after stabilization of alkaline phosphatase levels.
Hyperparathyroidism, Primary ; Genu Varus ; Genu Varum

Primary hyperparathyroidism (PHPT) typically results from parathyroid adenoma, multiglandular hyperplasia, or parathyroid carcinoma. Patients usually present with skeletal manifestations such as low-trauma fractures. Osteitis fibrosa cystica (OFC) is a classic yet rare skeletal manifestation of advanced PHPT currently reported in less than 2% of patients. We present a case of a 29-year-old Indian female who presented with a femur fracture and mandibular OFC 20 days after delivery. The painless mandibular swelling gradually progressed from the third month of pregnancy. The biochemical and radiological investigations were indicative of PHPT-associated OFC. After the excision of the three-and-a-half parathyroid gland, histology revealed benign cystic adenomas and hyperplasia. Based on the associated clinical manifestations, OFC was suspected. Clinical exome sequencing revealed CDC73(+) c.687_688dupAG heterogenous pathogenic autosomal dominant mutation. Undiagnosed PHPT in mothers during pregnancy led to neonatal hypocalcaemic convulsions. With adequate supplementation, the infant recovered completely from transient congenital hypoparathyroidism. OFC is an important diagnosis to consider in a young patient with swelling of the neck and jaw. Simultaneous high levels of PTH and serum calcium should raise a high index of suspicion for OFC. Parathyroidectomy helps manage the biochemical abnormalities and causes regression of the jaw mass that causes facial disfigurement and attenuates the declining BMD. Children born to mothers with PHPT should be evaluated for neonatal hypoparathyroidism and supplemented appropriately to reduce the risk of hypocalcaemic manifestations that can be life-threatening. If the CDC73 mutation is detected, the offspring should be monitored for signs of PHPT due to the high probability of inheritance and parathyroid malignancy.
Osteitis Fibrosa Cystica ; Hyperparathyroidism, Primary ; Fracture, Pathological ; Fractures, Spontaneous

Humans ; Parathyroid Neoplasms/diagnostic imaging* ; Single Photon Emission Computed Tomography Computed Tomography ; Parathyroid Glands/diagnostic imaging* ; Technetium Tc 99m Sestamibi ; Radiopharmaceuticals ; Hyperparathyroidism, Primary

To review the diagnosis and treatment of a case of hypercalcium crisis caused by primary hyperparathyroidism（PHPT） and prophylactic treatment of hungry bone syndrome. In a 32-year-old male with hypercalcemia, the main manifestations were loss of appetite, nausea, polyuria, polydipsia, fatigue, lethargy, etc. parathyroid hormone, serum calcium increased, thyroid function was normal, thyroid color ultrasound and MRI showed space-occupying behind the right thyroid, radionuclide examination showed abnormal imaging agent concentration in the right parathyroid area, there was a history of pathological fracture. Clinically diagnosed as hypercalcemia crisis secondary to PHPT.
Male ; Humans ; Adult ; Hypercalcemia/diagnosis* ; Hyperparathyroidism, Primary/surgery* ; Parathyroid Hormone ; Hypocalcemia/complications* ; Thyroid Gland ; Calcium

A 35-year-old female presented with abdominal pain, fever, projectile vomiting, and a diffuse tender epigastric mass. She was diagnosed to have acute persistent pancreatitis with a pancreatic pseudocyst. Elevated serum calcium levels provided an etiologic link between hypercalcemia and pancreatitis. On examination, a nodule was found in the left side of her neck which was later diagnosed as a giant left inferior parathyroid adenoma. This report highlights the critical analysis of history, examination, and investigations to reach an ultimate diagnosis. Pseudocyst drainage and parathyroidectomy resolved her symptoms.
Pancreatitis ; Gastric Outlet Obstruction ; Hyperparathyroidism, Primary

Primary hyperparathyroidism (PHPT) is a common endocrine condition, increasingly presenting asymptomatically and detected on routine laboratory examination in developed countries. Multiple spontaneous tendon ruptures as the initial presentation of PHPT is extremely rare. We present the case of a 28-year-old male diagnosed with severe hypercalcemia secondary to PHPT after presenting with complications of multiple spontaneous tendon ruptures,and discuss the management issues in PHPT for this patient.
Hyperparathyroidism, Primary ; Hypercalcemia

OBJECTIVES: The prevalence of asymptomatic primary hyperparathyroidism (PHPT) in China is lower than that in European and American countries and the study about the characteristics of asymptomatic PHPT was rare in China. This study aims to explore the characteristics of asymptomatic PHPT. METHODS: Clinical data of 150 patients with PHPT confirmed by operation and pathological examination were retrospectively analyzed. The patients were assigned into a symptomatic PHPT group ( RESULTS: The proportion of adenomas was higher than that of adenocarcinoma in the asymptomatic PHPT group. The proportion of the first diagnosis due to hypercalcemia found via biochemical examination in the asymptomatic PHPT group was higher than that in the symptomatic PHPT group (76.92% vs 25.81%, CONCLUSIONS Only a minority of PHPT patients are asymptomatic. Compared with the symptomatic PHPT patients, the primary cause of diagnosis is hypercalcemia, the duration of diagnosis and the diameter of parathyroid gland are shorter, the levels of serum calcium, and PTH are lower, the proportion of adenomas, vitamin D, and the BMD of L
Calcium ; China/epidemiology* ; Humans ; Hyperparathyroidism, Primary/epidemiology* ; Parathyroid Glands ; Parathyroid Hormone ; Retrospective Studies

OBJECTIVE: To summarize and analyze the clinical characteristics of primary hyperpara-thyroidism (PHPT) with normocalcemic parathormone elevation (NPE) after surgical treatment, so as to improve the therapeutic ability and standardized post-operative follow-up of PHPT patients. METHODS: Nine patients who were diagnosed with PHPT in the Department of Endocrinology of China-Japan Friendship Hospital from August 2017 to November 2019 were selected as the subjects. They all developed NPE within 6 months after surgical treatment. The clinical features and outcomes were collected and analyzed retrospectively, in addition, the related literature was reviewed. RESULTS: Clinical features: among the 9 patients, 6 were middle-aged and elderly females and 3 were male. The main clinical manifestations were bone pain, kidney stones, nausea and fatigue except for one case of asymptomatic PHPT. Pre-operative examination showed high serum calcium [(3.33±0.48) mmol/L], low serum phosphorus [0.76 (0.74, 0.78) mmol/L], high 24-hour urinary calcium [8.1(7.8, 12.0) mmol/24 h], obviously elevated intact PTH [(546.1±257.7) ng/L], vitamin D deficiency [25-hydroxyvitamin D₃ (21.0±5.7) nmol/L]. Serum levels of bone alkaline phosphatase [7 patients 41.3(38.6, 68.4) μg/L, 2 patients >90 μg/L] and N-terminal midcourse osteocalcin (>71.4 μg/L) were significantly elevated. The estimated glomerular filtration rate decreased in 2 patients. Imaging examination: 7 patients had osteoporosis. Renal calculi were found in 3 patients by renal ultrasound. Imaging examination of parathyroid glands found definite lesions in all the patients, including 2 cases of multiple lesions and 7 cases of single lesions. TREATMENT AND OUTCOME: two patients underwent parathyroidectomy, while other patients were treated with microwave thermal ablation. PTH increased 1 month after therapy [(255.0±101.4) ng/L], and no recurrent lesions were found by parathyroid ultrasound. After combined treatment with cal-cium and vitamin D for six months, PTH decreased significantly and the level of serum calcium remained normal at anytime during the follow-up period. CONCLUSION The occurrence of postoperative NPE may be related to the higher pre-operative PTH, vitamin D deficiency and lower creatinine clearance. However, NPE may not predict recurrent hyperthyroidism or incomplete parathyroidectomy. Adequate calcium and vitamin D supplementation after surgery seems to be beneficial for patients with NPE. Post-operative follow-up of PHPT patients should be standardized to prevent and treat post-operative NPE.
Aged ; Calcium ; China ; Female ; Humans ; Hyperparathyroidism, Primary/surgery* ; Male ; Middle Aged ; Parathyroid Hormone ; Parathyroidectomy ; Retrospective Studies

Primary hyperparathyroidism in children and adolescents is rare and often symptomatic at presentation. A 15-year-old boy presented with bilateral genu valgum for two years. Biochemical results were consistent with primary hyperparathyroidism. Calcium levels normalized two months after removal of a left inferior parathyroid adenoma.
parathyroid neoplasms ; genu valgum ; adolescent ; Hyperparathyroidism, Primary