Familial Hypocalciuric Hypercalcemia and Neonatal Severe Hyperparathyroidism

Front Horm Res. 2019:51:52-62. doi: 10.1159/000491038. Epub 2018 Nov 19.


Familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT) are genetically determined variants of primary hyperparathyroidism. FHH usually has a benign course, and patients do not require treatment, whereas NSHPT is a severe disorder often requiring early parathyroidectomy for young patients to survive. Recent discoveries in the genetic basis and new findings in therapeutic approaches have led to a great interest in these rare diseases.

Publication types

  • Review

MeSH terms

  • Humans
  • Hypercalcemia / congenital*
  • Hypercalcemia / diagnosis
  • Hypercalcemia / genetics
  • Hypercalcemia / therapy
  • Hyperparathyroidism, Primary* / diagnosis
  • Hyperparathyroidism, Primary* / genetics
  • Hyperparathyroidism, Primary* / therapy
  • Infant, Newborn
  • Infant, Newborn, Diseases* / diagnosis
  • Infant, Newborn, Diseases* / genetics
  • Infant, Newborn, Diseases* / therapy

Supplementary concepts

  • Hypocalciuric hypercalcemia, familial, type 1
  • Hypocalciuric hypercalcemia, familial, type 2