title: HRPT2- (CDC73) RELATED HEREDITARY HYPERPARATHYROIDISM: A CASE SERIES FROM WESTERN INDIA.
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.
  
  
  CONCLUSIONS
  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.
authors.forename: Kranti S
authors.initials: KS
authors.lastname: Khadilkar
authors.forename: Sweta R
authors.initials: SR
authors.lastname: Budyal
authors.forename: Rajiv
authors.initials: R
authors.lastname: Kasliwal
authors.forename: Anurag R
authors.initials: AR
authors.lastname: Lila
authors.forename: Tushar
authors.initials: T
authors.lastname: Bandgar
authors.forename: Nalini S
authors.initials: NS
authors.lastname: Shah
mesh_terms: D000293:Adolescent; D000328:Adult; D002118:Calcium / Q000097:blood; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D006961:Hyperparathyroidism / Q000097:blood / Q000235:genetics* / Q000601:surgery; D007194:India; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010281:Parathyroid Hormone / Q000097:blood; D016105:Parathyroidectomy; D010375:Pedigree; D010758:Phosphorus / Q000097:blood; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: C454900:CDC73 protein, human; D010281:Parathyroid Hormone; D025521:Tumor Suppressor Proteins; D010758:Phosphorus; D002118:Calcium