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Background <p>Familial Hypocalciuric Hypercalcemia (FHH) is a group of rare inherited diseases caused by loss-of-function mutations in the calcium-sensing receptor (CaSR) gene or related proteins. A significant link has not been discovered between germline inactivating CaSR mutations and parathyroid tumors in sporadic PHPT. However, it has been observed that most adenomatous and hyperplastic tumors have decreased CaSR expression.</p> Case presentation <p>A 59-year-old woman was referred to our clinic for evaluation of hypercalcemia despite having no active complaints. She underwent total thyroidectomy and parathyroidectomy due to parathyroid adenoma and multinodular goiter. Pathology revealed a parathyroid lipoadenoma. Postoperatively, calcium levels did not return to physiological ranges, raising suspicion of FHH. Genetic analysis identified compound heterozygosity for CASR c.665G &gt; A (p.Gly222Glu) and CASR c.2027&#xa0;C &gt; G (p.Tyr676Arg) variants, confirming the diagnosis of FHH.</p> Conclusion <p>Co-existence of PHPT due to a parathyroid lipoadenoma and FHH is rare.</p> <p>Patients may still exhibit mild to moderate hypercalcemia following surgery, thus more invasive procedures should be avoided; failure of parathyroid exploration should not be assumed.</p>

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Familial hypocalciuric hypercalcemia and primary hyperparathyroidism: a case report of an unusual association and literature review

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年11月12日

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  • Emre İnan,
  • Ezgi Ulaş,
  • Hatice Özışık,
  • Gökçen Ünal Kocabaş,
  • Mehmet Yiğit,
  • Ayça Aykut,
  • Asude Durmaz,
  • Yeşim Ertan,
  • Murat Özdemir,
  • Mehmet Erdoğan,
  • Banu Pınar Şarer Yürekli

摘要

Background

Familial Hypocalciuric Hypercalcemia (FHH) is a group of rare inherited diseases caused by loss-of-function mutations in the calcium-sensing receptor (CaSR) gene or related proteins. A significant link has not been discovered between germline inactivating CaSR mutations and parathyroid tumors in sporadic PHPT. However, it has been observed that most adenomatous and hyperplastic tumors have decreased CaSR expression.

Case presentation

A 59-year-old woman was referred to our clinic for evaluation of hypercalcemia despite having no active complaints. She underwent total thyroidectomy and parathyroidectomy due to parathyroid adenoma and multinodular goiter. Pathology revealed a parathyroid lipoadenoma. Postoperatively, calcium levels did not return to physiological ranges, raising suspicion of FHH. Genetic analysis identified compound heterozygosity for CASR c.665G > A (p.Gly222Glu) and CASR c.2027 C > G (p.Tyr676Arg) variants, confirming the diagnosis of FHH.

Conclusion

Co-existence of PHPT due to a parathyroid lipoadenoma and FHH is rare.

Patients may still exhibit mild to moderate hypercalcemia following surgery, thus more invasive procedures should be avoided; failure of parathyroid exploration should not be assumed.