HRPT2- (CDC73) Related Hereditary Hyperparathyroidism: A Case Series From Western India |
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| Institution: | 1. From the Department of Internal Medicine and Endocrinology, Medical University of Warsaw, Warsaw, Poland;2. Department of Oncological Gastroenterology, Maria Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Warsaw, Poland;3. Department of Nuclear Medicine, Medical University of Warsaw, Warsaw, Poland;4. Department of Medical Genetics, Centre for Biostructure, Medical University of Warsaw, Warsaw, Poland.;1. From the UCLA David Geffen School of Medicine, Los Angeles, California.;2. Department of Biomathematics; UCLA David Geffen School of Medicine, Los Angeles, California.;3. Section of Endocrine Surgery; UCLA David Geffen School of Medicine, Los Angeles, California.;4. Division of Hematology/Oncology; UCLA David Geffen School of Medicine, Los Angeles, California.;5. Department of Pathology and Laboratory Medicine; UCLA David Geffen School of Medicine, Los Angeles, California.;6. Division of Endocrinology; VA Greater Los Angeles Healthcare System, Los Angeles, California.;7. Division of Endocrinology, Diabetes, and Hypertension; UCLA David Geffen School of Medicine, Los Angeles, California. |
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| 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.Abbreviations: FIHP = familial isolated hyperparathyroidism HPT-JT = hyperparathyroidism jaw tumor syndrome PHPT = primary hyperparathyroidism PTH = parathyroid hormone 99Tc = 99Technetium |
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