Primary hyperparathyroidism in children and adolescents

Abstract

PHPT is more common in females. Presentation of the disease is similar to their adult counterparts except for more severe bone disease and less severe renal disease. MEN and familial non-MEN PHPT do not constitute a major cause of pediatric PHPT as against to worldwide data. The incidence of hyperplasia as a cause of PHPT is rare in our pediatric population.

Primary Hyperparathyroidism in Children and Adolescents

“…6,[8][9][10][12][13][14][15][16][17][18] Patients with multigland disease usually have germline mutations associated with genetic syndromes such as MEN1 and MEN2a as well as familial hyperparathyroidism. In nearly all cases, including children with HPT-JT syndrome, the parathyroid tumors are benign.…”

“…These symptoms usually include bone pain and abdominal pain. In recent series, however, almost 15% of patients have lacked symptoms at the time of diagnosis, with PHPT diagnosis following incidentally discovered hypercalcemia (Table 6) [7][8][9][10][11][12][13][14][15][16][17][18] . Despite this group of patients reportedly having few or no symptoms, most of these patients showed skeletal (88 of 117; 75%) or renal (60 of 134; 45%) pathology (Table 7) 7,9,12-14, 16 .…”

“…Despite this group of patients reportedly having few or no symptoms, most of these patients showed skeletal (88 of 117; 75%) or renal (60 of 134; 45%) pathology (Table 7) 7,9,12-14, 16 . Biochemically, these patients manifest hypercalcemia, hypophosphatemia hypercalciuria, and either elevated or inappropriately normal concentrations of iPTH (Table 8) [7][8][9][10][11][12][13][14][15][16][17][18] . In contrast with adult PHPT, in which an approximate 3:1 female predominance occurs, sex distribution appears to be nearly equal in pediatric PHPT (Table 2).…”

“…[6][7][8]10,[13][14][15][16][17][18] Remarkably, PHPT is clinically symptomatic in most young patients, who typically present with signs or symptoms of hypercalcemia, skeletal complications, and/or nephrolithiasis. Few if any young patients with PHPT are discovered incidentally to have asymptomatic hypercalcemia.…”

“…6 However, over the past 30 years several large pediatric case series were published that increased the number of reported cases of PHPT in this age group to more than 300. [7][8][9][10][11][12][13][14][15][16][17][18] The largest of the primary studies in this area comprises 55 patients, of whom 11 were infants with PHPT and 44 were young children or adolescents with PHPT. 13 The largest study focusing solely on childhood and adolescent PHPT includes 52 patients.…”