Primary hyperparathyroidism in children and adolescents: the Johns Hopkins Children's Center experience 1984-2001

Abstract

Primary hyperparathyroidism (PHPT) generally affects older adults, yet it also occurs in a small number of children, adolescents, and young adults. The early presentation of PHPT in children and adolescents suggests that these parathyroid tumors may differ in pathobiology from more typical tumors that occur in older adults. We performed a retrospective analysis of cases of PHPT treated surgically at the Johns Hopkins Children's Center between 1984 and 2001. Patients were ascertained by review of surgical pathology records, which confirmed the diagnosis of PHPT, and clinical and biochemical characteristics were extracted from medical records. We retrieved data on 16 of 17 patients; these patients (9 male, 7 female) were aged 10.5-20 years (16.3 +/- 2.9 years, median 16.8 years) at the time of diagnosis. Five patients had known metabolic risk factors for development of hyperparathyroidism, whereas 11 patients had spontaneous PHPT. The preoperative serum calcium level was markedly elevated (2.98 +/- 0.25 mM) in all 13 patients with normal renal function. Nearly all (77%) of these patients were found to have at least one symptom or sign of PHPT, most commonly hypercalciuria (83%) or nephrolithiasis (54%). Of these patients, 11 (85%) had single adenomas (mean weight, 597 mg; median, 600 mg; range, 170-1550 mg) while 2 had multiple gland disease, including 1 patient with multiple endocrine neoplasia type 2 (MEN2). In all cases, surgery was curative. These data suggest that PHPT in children is a more severe disease than in older adults, which may reflect a bias of ascertainment or a difference in fundamental parathyroid pathobiology.