Primary hyperparathyroidism in neonates and childhood. The French experience (1984-2004)

Eric Mallet1,

  • 1Department of Pediatrics and Reference Centre of Rare Calcium and Phosphorus Diseases, University Hospital Charles Nicolle, Rouen, France. eric.mallet@chu-rouen.fr

Hormone Research
|January 26, 2008
PubMed

Insights

Primary hyperparathyroidism (HP1) in children is rare but severe, often presenting with symptoms and kidney stones. Early diagnosis and molecular testing, especially for neonatal cases and potential Multiple Endocrine Neoplasias, are crucial for effective management.

Area of Science:

  • Pediatric Endocrinology
  • Calcium Metabolism Disorders
  • Surgical Endocrinology

Background:

  • Primary hyperparathyroidism (HP1) in childhood is considered rare, with limited data on its incidence and characteristics.
  • The availability of intact parathormone (iPTH) assays has improved diagnostic capabilities.

Purpose of the Study:

  • To determine the incidence and characteristics of childhood HP1.
  • To evaluate diagnostic and management strategies for pediatric HP1.

Main Methods:

  • A retrospective study collected 55 cases of HP1 in children and adolescents over 20 years (1984-2004) across France.
  • Utilized intact parathormone (iPTH) radioimmunoassay, ultrasonography, scintigraphy, and molecular biology tests.

Main Results:

  • 55 cases were identified, with 83% symptomatic and 43% having nephrolithiasis, linked to high calcium and iPTH levels.
  • Surgery was performed on 44 children/adolescents, revealing 29 adenomas and 11 hyperplasias; two cases of Multiple Endocrine Neoplasias (MENs) were found.
  • Neonatal management shifted towards medical treatment (e.g., diphosphonates) following CaSR mutation identification.

Conclusions:

  • Childhood HP1 is a rare but severe condition requiring careful management.
  • Molecular biology tests are valuable for identifying neonatal CaSR mutations and pre-surgical screening for MEN mutations in children.
Abstract

Related Concept Videos

The Parathyroid Glands00:59

The Parathyroid Glands

The two pairs of parathyroid glands embedded within the posterior surface of the thyroid gland are restricted by a dense capsule around them. These glands comprise two distinct cell populations—parathyroid oxyphil and parathyroid principal cells- pivotal in calcium homeostasis.
Oxyphil cells, whose functions remain elusive, emerge during late puberty, adding a layer of complexity to the parathyroid gland's intricacies. In contrast, principal parathyroid cells undertake a vital role by producing...
Pharmacokinetics in Pediatric Patients: Drug Metabolism01:24

Pharmacokinetics in Pediatric Patients: Drug Metabolism

In pediatric care, understanding the nuances of hepatic drug metabolism is crucial, as it significantly differs from that of adults. This divergence is primarily due to the developmental stage of drug-metabolizing enzymes, which affects how medications are processed in the body. In neonates, for instance, the activity of Phase I enzymes—critical for the initial breakdown of drugs—is markedly reduced, functioning at just 20–40% of the levels seen in adults. This reduction poses a challenge in...
Hyperthyroidism II: Pathophysiology01:27

Hyperthyroidism II: Pathophysiology

Hyperthyroidism is a hypermetabolic state caused by elevated levels of thyroid hormones, triiodothyronine (T3) and thyroxine (T4). It results from dysregulation at the thyroid, pituitary, or immune system level and affects multiple organ systems.PathophysiologyThe most common cause of hyperthyroidism is Graves’ disease, an autoimmune disorder in which antibodies, specifically thyroid-stimulating antibodies (TSAb), a subtype of TSH receptor antibodies (TRAb), bind to and activate TSH receptors...
Hyperthyroidism I: Introduction01:25

Hyperthyroidism I: Introduction

Hyperthyroidism is a type of thyrotoxicosis characterized by the thyroid gland's overproduction of the thyroid hormones triiodothyronine (T3) and thyroxine (T4). This hormone excess increases the basal metabolic rate and enhances sensitivity to catecholamines.DiagnosisDiagnosis is based on clinical features and biochemical testing. It typically shows suppressed thyroid-stimulating hormone (TSH) levels below 0.4 mIU/L, with elevated free T3 and/or T4. Additional tests, including thyroid...
Pharmacokinetics in Pediatric Patients: Overview and Drug Absorption01:23

Pharmacokinetics in Pediatric Patients: Overview and Drug Absorption

Understanding the physiological differences in the pediatric population is crucial for effective pharmacotherapy. Neonates, infants, and children exhibit significant variations in gastric pH, gastric emptying time, intestinal transit time, and biliary function. These variations profoundly affect oral drug absorption, necessitating a nuanced approach to pediatric dosing.Neonates present with a unique physiological profile, having a gastric pH greater than 4 and faster and more irregular gastric...
Graves Disease II: Pathophysiology01:24

Graves Disease II: Pathophysiology

Graves’ disease is an autoimmune disorder characterized by the production of thyroid-stimulating immunoglobulins (TSI) that activate TSH receptors, leading to excessive synthesis and release of thyroid hormones (T3 and T4) and resulting in hyperthyroidism.Among all causes of hyperthyroidism, Graves’ disease is the most common and can happen at any age, though it is more frequent in women. It produces a hypermetabolic state with features such as weight loss, tachycardia, tremor, and heat...