Adolescent primary hyperparathyroidism

Abstract

Adolescent primary hyperparathyroidism (PHPT) is a rare endocrine disorder bearing distinctions from the adult form. This review examines its unique aspects, focusing on clinical presentation, genetic etiologies, genotype-phenotype correlations, and therapeutic management. Adolescent PHPT often has a genetic basis, whether familial, syndromic, or apparently sporadic, and identifying the underlying genetic cause is important for patient care. The clinical presentation is predominantly symptomatic worldwide. Unique manifestations in this age group include rickets, short stature, and slipped capital femoral epiphysis. Genotype-specific differences are evident in the adolescent PHPT characteristics. Diagnostic evaluation requires careful interpretation of biochemical and dual-energy X-ray absorptiometry findings using age and gender-specific reference ranges, with targeted screening for syndrome-associated neoplasms. Surgery remains the cornerstone of management. Current knowledge gaps in their management include treatment protocols for multiple endocrine neoplasia type 1-associated PHPT, the efficacy and safety of nonsurgical options, and long-term post-surgical outcomes.

Keywords: adolescent primary hyperparathyroidism; dual-phase CT; genetics in adolescent primary hyperparathyroidism; genotype-phenotype correlation; parathyroid surgery in adolescents.