Primary hyperparathyroidism in children and adolescents

Abstract

Primary hyperparathyroidism (PHPT) is a common endocrine disorder in adults in whom the typical presentation is incidentally discovered as asymptomatic hypercalcemia. PHPT is much less common in children and adolescents, but has greater morbidity in this age group, as most young patients with PHPT will have symptomatic hypercalcemia or complications such as kidney stones, abdominal pain, and skeletal fragility. An important feature of PHPT in younger patients is the relatively high prevalence of germline inactivating mutations of the CASR gene, which encodes the calcium-sensing receptor. Biallelic CASR mutations cause neonatal severe hyperparathyroidism, a life-threatening condition that presents within days of life with marked hypercalcemia, respiratory distress, failure to thrive, and skeletal demineralization. By contrast, more common heterozygous CASR mutations are generally associated with a benign variant of PHPT termed familial hypocalciuric hypercalcemia. Appropriate management of PHPT in children and adolescents requires distinction between familial hypocalciuric hypercalcemia, which generally requires no specific treatment, and other forms of PHPT that are best treated by parathyroidectomy.

Outcomes of minimally invasive parathyroidectomy in pediatric patients with primary hyperparathyroidism owing to parathyroid adenoma: A single institution experience

“…Unlike previous pediatric reviews, we found a higher incidence in females, similar to the experience in adult PHPT. The proportion of asymptomatic patients was higher in our series than that described in 2 recent pediatric reviews (24% vs. 15%) but it was lower than that reported in adults [3, 4]. This is consistent with recent reviews that indicate that PHPT at a younger age is usually more symptomatic at diagnosis [5, 29].…”

Approach to the Child with Hypercalcaemia

“…It has an incidence of 2-5 per 100,000 (compared with 1 in 1,000 in adults), and there is an equal sex distribution [4] . Approximately 20% of cases of PHPT present in the neonatal period, and the remaining 80% present during adolescence [5] .…”

“…At presentation of PHPT, children are usually symptomatic, with only 15% of cases diagnosed serendipitously as asymptomatic hypercalcaemia [4] . Children typically present with signs or symptoms of hypercalcaemia, skeletal complications, and/or nephrolithiasis (but see [19][20][21][22].…”

“…The incidence of skeletal and renal complications is high, occurring in 75% and 45% of cases, respectively [4] . Renal complications include nephrolithiasis, nephrocalcinosis and renal failure.…”

“…A limitation of sestamibi scanning is in its use in multiglandular parathyroid disease and small parathyroid adenoma cases. The use of single-photon emission computed tomography (three-dimensional) as an adjunct appears to increase the diagnostic yield in cases of small parathyroid adenomas or adenomas located at ectopic sites [4] .…”