AI Article Synopsis
- The study presents a case series of 7 patients from 4 families in western India who have hereditary primary hyperparathyroidism (PHPT) due to CDC73 gene mutations.
- The average age of diagnosis was around 27 years, with some family members identified through biochemical tests, while others showed no apparent symptoms of the condition.
- Genetic testing is crucial for young patients with PHPT or those showing recurrent disease and other related syndromic features like jaw tumors and kidney issues, highlighting the complexities of this hereditary disorder.
Article Abstract
Objective: To describe a case series of HRPT2- (CDC73) related hereditary primary hyperparathyroidism (PHPT) from western India.
Methods: We present a case series of 4 families (7 patients) with PHPT caused by CDC73 gene mutations.
Results: The mean age of presentation of the 4 index cases was 27.25 ± 9.8 years. Two family members were identified through biochemical screening (Cases 1b and 2b), while 1 mutation-positive family member did not manifest any features of PHPT or hyperparathyroidism jaw tumor syndrome (HPT-JT) syndrome (Case 2c). Biochemistry showed increased serum calcium (mean: 13.21 ± 1.24 mg/dL), low serum phosphorus (mean: 1.78 ± 0.44 mg/dL), and high parathyroid hormone (PTH, mean: 936 ± 586.9 pg/mL). All patients had a uniglandular presentation and underwent single adenoma excision initially except Cases 2a and 2b, who underwent subtotal parathyroidectomy at baseline. Two cases experienced PHPT recurrence (Cases 3 and 4), while 1 remained uncured due to parathyroid carcinoma (Case 1a). Other associated syndromic features like ossifying jaw fibromas were present in 2 patients, renal cysts in 3 patients, and uterine involvement in 2 patients. Two families had novel germline CDC73 mutations (Families 1 and 3), while the other 2 had reported mutations. Family 2 had familial isolated PHPT without any other features of HPT-JT syndrome.
Conclusion: Our findings reaffirm the need for genetic analysis of patients with PHPT, especially those with younger age of disease onset; recurrent disease; and associated features like polycystic kidneys, endometrial involvement, ossifying jaw tumors, or parathyroid carcinoma.
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| http://dx.doi.org/10.4158/EP15648.OR | DOI Listing |
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