Table 1 Heritable hyperparathyroidism syndromes

From: Parathyroid tumors and related disorders

Syndrome

Gene (locus)

Parathyroid pathology*

Other features

Multiple endocrine neoplasia 1 (MEN) 1

MEN1 (11q13)

Hyperplasia (90%)

Pituitary adenomas, pancreatic endocrine tumors, carcinoid tumors, adrenocortical tumors, facial angiofibromas, collagenomas, lipomas

Multiple endocrine neoplasia 2a (MEN 2a)

RET (10q11.2)

Hyperplasia (30%)

Medullary thyroid carcinoma, pheochromocytoma

Familial hypocalciuric hypercalcemia (FHH)

CaSR/heterozygous (3q13.3q21)

Mild hyperplasia

 

Neonatal severe primary hyperparathyroidism

CaSR/homozygous (3q 13.3q21)

Hyperplasia

 

Hyperparathyroidism-jaw tumor (HPT-JT) syndrome

HRPT2 (1q25-q32)

Cystic adenomas, carcinoma (15%)

Ossifying jaw fibromas; renal cysts, carcinomas; Wilms’ tumor

Familial isolated hyperparathyroidism

MEN1 (11q13); CaSR (3q13.3-q21); HRPT2 (1q25-q32)

Hyperplasia, carcinoma

 

Familial hypercalcemic hypercalcuria (autosomal dominant mild HPT)

CaSR

Hyperplasia, adenoma

 
  1. *Although the term “hyperplasia” has been used to describe the parathyroid lesions in these syndromes, they are more closely related to adenomas since they represent clonal proliferations. For this reason, it may be preferable to refer to these cases as “multiglandular parathyroid disease” rather than “hyperplasia”.
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