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Chapter 7: The different forms of primary hyperparathyroidism at different ages of life: Childhood, pregnancy,
Madleen Lemaitre1, Clotilde Picart2, Iva Gueorguieva3
1Service d'endocrinologie, diabétologie, métabolisme, nutrition, hôpital Huriez, institut génomique européen pour le diabète, université de Lille, CHU de Lille, 59000 Lille, France.
Insights
Primary hyperparathyroidism (PHPT) is rare in children, often linked to genetic mutations, with variable symptoms. In adults, particularly the elderly, surgery is preferred for osteoporosis, while pregnancy requires tailored management.
Area of Science:
- Endocrinology
- Pediatric Endocrinology
- Genetics
Background:
- Primary hyperparathyroidism (PHPT) is uncommon in pediatric populations, with germline mutations identified in a significant proportion of cases.
- Clinical presentation in children varies widely, from asymptomatic neonates to symptomatic adolescents, influenced by genetic factors and hypercalcemia severity.
- Pregnancy and elderly age present unique challenges for PHPT diagnosis and management due to altered physiology and comorbidities.
Purpose of the Study:
- To review the clinical characteristics, diagnostic approaches, and management strategies for primary hyperparathyroidism across different age groups: children, pregnant women, and the elderly.
- To highlight the genetic underpinnings and variable symptomatology in pediatric PHPT.
- To discuss the specific considerations for managing PHPT during pregnancy and in geriatric populations.
Main Methods:
- Literature review and synthesis of current evidence on primary hyperparathyroidism in pediatric, pregnant, and elderly populations.
- Analysis of diagnostic criteria and treatment modalities, including surgical and conservative approaches.
- Evaluation of genetic factors, clinical manifestations, and outcomes specific to each demographic group.
Main Results:
- Germline mutations are found in approximately half of pediatric PHPT cases, with presentation severity correlating with genetic cause and hypercalcemia.
- In pregnancy, PHPT is often asymptomatic, with maternal-fetal risks dependent on calcium levels; management is adapted to gestational stage.
- In the elderly, PHPT management prioritizes surgical intervention for osteoporosis, while neuropsychological and cardiovascular symptoms do not currently warrant parathyroidectomy.
Conclusions:
- Primary hyperparathyroidism management requires age-specific strategies, considering genetic factors in children, maternal-fetal risks in pregnancy, and osteoporosis prevalence in the elderly.
- Surgical expertise is crucial for pediatric PHPT, and parathyroidectomy remains a safe and effective treatment across age groups when indicated.
- Further research may refine management guidelines, particularly regarding non-classical symptoms and long-term outcomes in diverse populations.
Abstract:
Primary hyperparathyroidism is rare in children. A germline mutation is identified in half of all children with primary hyperparathyroidism (70% of newborns and infants, and 40% of children and adolescents). The clinical manifestations of primary hyperparathyroidism in children are highly variable (often absent in newborns, rather severe and symptomatic in children and adolescents) and depend on the genetic cause, as well as the severity, rapidity of onset and duration of hypercalcemia. Morphological investigation and treatment of children and adolescents follow the same rules as for adults. Surgery must be carried out by a surgeon expert in this pathology in children. Primary hyperparathyroidism is rarely diagnosed during pregnancy. Pregnancy-related changes in phosphocalcic homeostasis can sometimes mask its symptomatology, which explains why it is most often asymptomatic and/or undiagnosed due to low levels of hypercalcemia and/or the attribution of certain symptoms (e.g. vomiting) to pregnancy itself. Maternal-fetal morbidity associated with primary hyperparathyroidism during pregnancy, historically considered significant, is in fact rare and depends on maternal calcium levels. Treatment (conservative or surgical) must be adapted to the term of pregnancy, the severity of symptoms and maternal-fetal risks. Primary hyperparathyroidism is common in the elderly. Although the diagnostic approach is comparable to that in younger patients, some clinical specificities of this population need to be considered. In view of the high prevalence of osteoporotic fractures and their consequences for morbidity and mortality in the elderly, surgery is the preferred option in case of osteoporosis. In 2024, the neuropsychological symptoms and cardiovascular impairment associated with primary hyperparathyroidism do not justify parathyroidectomy. Parathyroidectomy is much less frequent than in the younger population, although it remains the first-line treatment, especially as its safety and efficacy have been widely demonstrated.
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