Familial hyperparathyroidism syndromes |
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| Institution: | 1. Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden;2. Section of Endocrine Surgery, Karolinska Institutet, Stockholm, Sweden;3. Department of Medicine, Karolinska Institutet, Stockholm, Sweden;4. Department of Endocrinology, Metabolism and Diabetes, Karolinska Institutet, Stockholm, Sweden;5. Department of Clinical Science, Intervention and Technology, Renal Unit, Karolinska Institutet, Stockholm, Sweden;6. Karolinska University Hospital, Stockholm, Sweden;1. Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, Tenn;2. University of California San Francisco, San Francisco, Calif;3. Department of Pediatrics, Primary Children''s Hospital, University of Utah, Salt Lake City, Utah;4. Children''s Mercy Kansas City, University of Missouri–Kansas City School of Medicine, Kansas City, Mo;5. Department of Pediatrics, Duke University Medical Center, Durham, NC;6. Department of Pediatrics, Case Western Reserve School of Medicine, Cleveland, Ohio;7. Department of Pediatrics, Yale University, New Haven, Conn |
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| Abstract: | Primary hyperparathyroidism is a common endocrine disorder and the most prevalent cause of hypercalcemia worldwide. While most cases are sporadic, 5–10% of cases are inherited as part of a familial syndrome: multiple endocrine neoplasia (MEN-1, MEN-2A, MEN-4), hyperparathyroidism jaw-tumor syndrome (HPT-JT), familial hypocalciuric hypercalcemia (FHH), neonatal severe hyperparathyroidism (NSHPT), autosomal dominant moderate hyperparathyroidism (ADMH), or familial isolated hyperparathyroidism (FIHPT). Recent developments in molecular pathology identified specific germline mutations (MEN1, RET, CDKIs, CDC73/HRPT2, CaSR, GNA11, AP2S1) implicated in their pathogenesis. In contrast to sporadic primary hyperparathyroidism which is usually caused by a solitary parathyroid adenoma, hereditary hyperparathyroidism tend to present with multiglandular parathyroid disease, with variable penetrance according to the genetic syndrome. As a result, the clinical severity of each familial condition varies tremendously, resulting in distinct prognosis and treatment strategies. With the advent of molecular testing, genetic subtyping has become an integral part of treatment decision making, requiring correlation with clinical and pathologic findings. This review provides an update on the current knowledge of hereditary hyperparathyroidism and its associated genetic syndromes. |
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| Keywords: | adenoma carcinoma familial familial hypocalciuric hypercalcemia hereditary hyperparathyroidism hyperplasia multiple endocrine neoplasia parathyroid |
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