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Pediatric primary hyperparathyroidism: Surgical pathology and long-term outcomes in sporadic and familial cases
Thomas Szabo Yamashita1, Hallbera Gudmundsdottir1, Trenton R Foster1
1Mayo Clinic, Department of Surgery, 200 1st Street SW, 55905, Rochester, MN, USA.
Insights
Pediatric primary hyperparathyroidism (PHPT) surgery outcomes show familial cases have higher recurrence rates than sporadic ones. Closer follow-up is needed for familial PHPT patients.
Area of Science:
- Pediatric endocrinology
- Surgical outcomes research
Background:
- Primary hyperparathyroidism (PHPT) is uncommon in children.
- Surgical outcome data for pediatric PHPT is limited.
Purpose of the Study:
- To analyze surgical outcomes in pediatric patients with PHPT.
- To compare outcomes between familial and sporadic PHPT cases.
Main Methods:
- Retrospective review of 66 patients (≤21 years) undergoing PHPT surgery from 1994-2020.
- Analysis of patient demographics, genetic testing, surgical approach, and outcomes including persistence and recurrence.
Main Results:
- Familial PHPT cases (32%) showed significantly lower rates of single gland disease (19% vs. 85%) compared to sporadic cases.
- Recurrence rates were higher in familial PHPT (38% vs. 2%) with a median time to recurrence of 61 months versus 124 months in sporadic cases.
- Persistence rates were similar between familial and sporadic groups (9% vs. 9%).
Conclusions:
- Pediatric PHPT is often sporadic, but genetic syndromes should be considered.
- Familial PHPT cases present distinct surgical characteristics and higher recurrence rates, necessitating vigilant long-term follow-up.
Background:
Primary Hyperparathyroidism (PHPT) is rare in pediatric patients. Data regarding surgical outcomes are scarce.
Methods:
Single-center retrospective review (1994-2020) of patients ≤21 years undergoing surgery for PHPT.
Results:
66 patients were identified (61% female, 17 ± 3 years). 71% of patients were symptomatic at diagnosis. 32% of patients had known familial syndromes, most commonly MEN-1. 23% of patients without a known mutation had genetic testing, 22% positive. 56% of the total and 19% of the familial cohort underwent focused exploration. Single gland disease was found in 19% of familial vs 85% of sporadic cases, p < 0.00001. Persistence was 9%, all in the sporadic group, p = 0.11. Recurrence was 15%: 38% in the familial vs 2% in the sporadic groups, p=0.0004. Time to recurrence was 59 months (Q1-38, Q3-95), familial 61 vs 124 months sporadic, p=0.001.
Conclusion:
Pediatric PHPT is frequently sporadic, although 5% of apparent sporadic cases are secondary to syndromes. Familial cases have higher rates of recurrence, requiring closer follow-up.
