Large Water-Clear-Cell Parathyroid Adenoma: A Report of a Rare Case.

Water-clear-cell parathyroid adenomas are extremely rare tumors characterized by cells that contain clear, foamy cytoplasm. Here we report a case of a large water-clear-cell parathyroid adenoma in a 70-year-old male. The patient was presented to an outside hospital with severe abdominal pain and supporting CT imaging confirming a small bowel obstruction. Initial laboratory studies revealed hypercalcemia and elevated parathyroid hormone levels. Subsequent ultrasound imaging revealed a 2.7 × 2.1 cm neck mass suspicious for a parathyroid adenoma. A parathyroidectomy was performed, and microscopic evaluation revealed an expansile proliferation of cells with characteristic water-clear cell features. Although rare, water-clear-cell parathyroid adenomas are clinically indistinguishable from more common subtypes and should be considered in the differential diagnosis of an anterior neck mass.

Is All Hypocalcemia Due to Low Parathyroid Hormone?: An Unusual Case of Pseudohypoparathyroidism in a Young and Healthy Patient.

Pseudohypoparathyroidism is a rare disorder that is characterized by hypocalcemia and hyperphosphatemia that are unresponsive to the parathyroid hormone. We present a unique case of pseudohypoparathyroidism seen in a 33-year-old male who presented with abnormal laboratory findings including hypocalcemia, hypokalemia, hypomagnesemia, hyperphosphatemia, and positive Trousseau's sign. Pseudohypoparathyroidism is a rare phenomenon, with an estimated prevalence between 0.3 and 1.1 cases per 100,000. Genetic mutations have been noted to play a role in the presentation of pseudohypoparathyroidism. Clinical phenotypical manifestations can include brachydactyly, short stature, a stocky build, and a round face. Similar routine follow-up and treatment as traditional hypoparathyroidism is practiced. This case highlights a unique endocrinologic pathology that clinicians should be more aware of, as it can be confused with hypoparathyroidism.

Skeletal Complications With GNAS Mutation: An Unusual Case With Osteoma Cutis, Gout, and Synovial Chondromatosis in a Patient With Pseudopseudohypoparathyroidism.

OBJECTIVE: We present a patient with pseudopseudohypoparathyroidism (PPHP) who developed both gout and synovial chondromatosis, in addition to the classical Albright's hereditary osteodystrophy phenotype. METHODS: The patient's clinical course, laboratory data, and imaging are presented. RESULTS: The patient is a 40-year-old male with no pertinent family history who presented with findings of Albright's hereditary osteodystrophy, including short stature, obesity, rounded face, shortened fourth and fifth digits, and osteoma cutis (heterotopic subcutaneous ossification), which required surgical removal for pain relief. Genetic testing confirmed a GNAS mutation, and labs showed normal parathyroid hormone, calcium, and phosphorus levels, diagnostic of PPHP. The patient later developed gout and synovial chondromatosis, a rare benign process where the synovial membrane forms calcified loose bodies within the joint. CONCLUSION: The patient case highlights the musculoskeletal complications of PPHP. Though PPHP has been rarely associated separately with gout or synovial chondromatosis, this is the first reported patient to have developed both conditions. This case raises the significance of multidisciplinary follow up for potential orthopedic complications. Moreover, the case underscores the importance of genetics and epigenetics in skeletal health, independent of calcium homeostasis in the blood.