Sporadic and hereditary primary hyperparathyroidism.

Area of Science:

• Endocrinology
• Genetics

Background:

• Primary hyperparathyroidism (PHPT) is a prevalent endocrine disorder, especially in post-menopausal women, marked by hypercalcemia and elevated parathyroid hormone (PTH).
• Single-gland adenoma accounts for the majority of sporadic PHPT cases, while familial forms, though rare (<5%), encompass a spectrum of genetic disorders.

Purpose of the Study:

• To review the causes, genetic basis, and evolving clinical manifestations of PHPT.
• To highlight the increasing recognition of cardiovascular and neuropsychiatric aspects of PHPT.
• To discuss management options, including parathyroidectomy and conservative follow-up.

Main Methods:

• Review of existing literature on PHPT etiology, genetics, clinical presentation, and management.
• Emphasis on the shift from classic symptoms to subtle manifestations.

Main Results:

• Single-gland adenoma is the predominant cause of sporadic PHPT.
• Familial hyperparathyroid syndromes are genetically heterogeneous and follow Mendelian inheritance.
• Cardiovascular and neuropsychiatric manifestations are increasingly recognized as important aspects of PHPT.

Conclusions:

• PHPT encompasses both sporadic and rare familial forms with defined genetic underpinnings.
• The clinical presentation of PHPT is evolving, with greater attention to non-classic symptoms.
• Parathyroidectomy remains the definitive treatment, with conservative management an option for asymptomatic cases.