Familial isolated hyperparathyroidism due to multiple adenomas associated with ossifying jaw fibroma and multiple uterine adenomyomatous polyps

We describe three siblings with hyperparathyroidism due to multiple parathyroid adenomas without evidence of other endocrinological abnormalities. A 22-year-old woman had two parathyroid adenomas complicated by multiple ossifying jaw fibromas. Her sister, aged 29, also suffered from primary hyperparathyroidism associated with two parathyroid adenomas one of which was also suspected to be a carcinoma. These two female patients had unusual multiple small uterine polyps, which were diagnosed as adenomyomatous polyps. Their brother, aged 17, had two parathyroid adenomas complicated by urolithiasis. These three patients are characterized by young adult-onset familial isolated hyperparathyroidism due to multiple adenomas with various complications including ossifying jaw fibroma and uterine adenomyomatous polyps. These clinical features are different from those of familial hyperparathyroidism associated with multiple endocrine neoplasia.

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Primary Hyperparathyroidism in Patients with Multiple Endocrine Neoplasia Type 1: Comparison with Sporadic Parathyroid Adenomas

Hormone and Metabolic Research ◽

10.1055/s-2001-16944 ◽

2001 ◽

Vol 33 (8) ◽

pp. 499-503 ◽

Cited By ~ 10

Author(s):

M. Katai ◽

A. Sakurai ◽

Y. Ikeo ◽

K. Hashizume

Keyword(s):

Primary Hyperparathyroidism ◽

Multiple Endocrine Neoplasia ◽

Multiple Endocrine Neoplasia Type ◽

Endocrine Neoplasia ◽

Endocrine Neoplasia Type ◽

Parathyroid Adenomas

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Primary Hyperparathyroidism Focused on Molecular Pathogenesis

European Endocrinology ◽

10.17925/ee.2014.10.02.153 ◽

2014 ◽

Vol 10 (2) ◽

pp. 153

Author(s):

José Manuel Gómez Sáez ◽

Keyword(s):

Primary Hyperparathyroidism ◽

Multiple Endocrine Neoplasia ◽

Medullary Thyroid Cancer ◽

Susceptibility Gene ◽

Gene Mutations ◽

Chromosome 1 ◽

Endocrine Neoplasia ◽

Parathyroid Adenomas ◽

Multiple Endocrine Neoplasia 2A ◽

Parathyroid Disease

Primary hyperparathyroidism (PHPT) is a common cause of hypercalcaemia. The most common lesion found in patients is the solitary benign parathyroid adenoma. Multiple parathyroid adenomas have also been reported. Parathyroid carcinomas are an uncommon cause of PHPT. In 15% of patients, all four parathyroid glands are involved and it may be associated with a familial hereditary syndrome, such as multiple endocrine neoplasia, types 1, 2A and 4. PHPT jaw tumour syndrome is associated with fibromas in the mandible and tumours can also be present in the kidneys and the uterus. No predisposing germline DNA variants in parathyroid adenomas have been demonstrated and only a few clonally altered genes that drive parathyroid tumorigenesis have been identified. Frequently parathyroid adenomas haveHRPT2gene mutations that are likely to be of pathogenetic importance. Mutations in theMEN1gene (localised to 11q13) are responsible for multiple endocrine neoplasia 1. Multiple endocrine neoplasia 2A, which can be associated with medullary thyroid cancer, is due to a germline mutation of theRETproto-oncogene located on chromosome 10. In MEN1-like negative patients some of the germline mutations in this new susceptibility gene were due to gene CDKN1B (12p13). This new syndrome was classified as multiple endocrine neoplasia 4. In PHPT jaw tumour syndrome,HRPT2, the gene on the long arm of chromosome 1, is responsible for the syndrome. It is suggested to perform genetic testing in patients with PHPT below the age of 30 years, but at any age in patients presenting with multigland parathyroid disease.

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Primary hyperparathyroidism in childhood

Pediatrician (St Petersburg) ◽

10.17816/ped8520-24 ◽

2017 ◽

Vol 8 (5) ◽

pp. 20-24

Author(s):

Alexandr V. Gostimsky ◽

Zoya S. Matveeva ◽

Anatoliy F. Romanchishen ◽

Igor V. Karpatskiy ◽

Sergey S. Peredereev ◽

...

Keyword(s):

Surgical Treatment ◽

Primary Hyperparathyroidism ◽

Bone Tissue ◽

Multiple Endocrine Neoplasia ◽

Clinical Manifestations ◽

Genetic Changes ◽

Ulcer Disease ◽

Endocrine Neoplasia ◽

Parathyroid Adenomas ◽

Sporadic Cases

Primary hyperparathyroidism is a disease caused by excessive production of parathyroid hormone by the parathyroid glands. Most often, sporadic cases of the disease occur. In the family form of hyperparathyroidism, as well as in the syndrome of multiple endocrine neoplasia, the disease is caused by genetic changes. In manifest forms of the disease, hyperparathyroidism leads to destruction and deformation of bone tissue, osteoporosis, urolithiasis, cholelithiasis, pancreatitis, peptic ulcer disease, and disorders of mineral and electrolyte metabolism. Bone manifestations of the disease can lead to disability of the child. The article presents the experience of surgical treatment of 15 children, patients with primary hyperparathyroidism, aged from 6 to 18 years old, 10 of them girls and 5 boys operated in the period from 1973 to 2017. The main methods of diagnosis of the disease, the difficulties of timely diagnostic are discussed. The features of laboratory indicators of clinical manifestations of the disease are clearly shown. The clinical manifestations of primary hyperparathyroidism in children differed from adults more heavily damage of bone tissue with the development of gross deformities of the limbs. In 8 (57.3%) of 15 children, manifest forms of the disease were diagnosed. In 7 (46.7%) children, parathyroid adenomas were detected and removed during surgery for various thyroid diseases. In two patients, parathyroid adenomas were removed during operations performed for a genetically confirmed syndrome of multiple endocrine neoplasia of type IIa. In this study, the features of adenoma localization of the parathyroid gland, the possibility of surgical treatment and the dynamics of clinical manifestations after surgery are discussed. Proper treatment allowed to achieve full recovery.

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Calcium and Bone Metabolism Disorders

Mayo Clinic Internal Medicine Board Review ◽

10.1093/med/9780190464868.003.0012 ◽

2016 ◽

pp. 149-156

Author(s):

Marius N. Stan

Keyword(s):

Parathyroid Hormone ◽

Primary Hyperparathyroidism ◽

Parathyroid Carcinoma ◽

Multiple Endocrine Neoplasia ◽

Multiglandular Disease ◽

Common Cause ◽

Endocrine Neoplasia ◽

Familial Hyperparathyroidism

The causes of hypercalcemia are categorized as either parathyroid hormone (PTH) dependent or PTH independent. Primary hyperparathyroidism is the most common cause of hypercalcemia in ambulatory patients. A single parathyroid adenoma is the cause in 85% of patients, and multiglandular disease is the cause in the remainder. Parathyroid carcinoma is a rare cause of hypercalcemia. Primary hyperparathyroidism may be sporadic or familial. Familial hyperparathyroidism is usually multiglandular and most commonly a manifestation of multiple endocrine neoplasia (MEN) type 1 or type 2 syndromes.

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Familial Hyperparathyroidism – Disorders of Growth and Secretion in Hormone-Secretory Tissue

Hormone and Metabolic Research ◽

10.1055/s-0043-120670 ◽

2017 ◽

Vol 49 (11) ◽

pp. 805-815 ◽

Cited By ~ 9

Author(s):

Stephen Marx ◽

Delmar Lourenco

Keyword(s):

Primary Hyperparathyroidism ◽

Multiple Endocrine Neoplasia ◽

Multiple Endocrine Neoplasia Type ◽

Parathyroid Tissue ◽

Total Parathyroidectomy ◽

Familial Hypocalciuric Hypercalcemia ◽

Endocrine Neoplasia ◽

Endocrine Neoplasia Type ◽

Activating Mutation ◽

Familial Hyperparathyroidism

AbstractSix syndromes of familial hyperparathyroidism are compared: 1) Familial hypocalciuric hypercalcemia (FHH) expresses primary hyperparathyroidism (PHPT) beginning at birth with lifelong hypercalcemia. There is nonsuppressed PTH secretion from outwardly normal parathyroid glands. It reflects germline heterozygous mutation in CASR, GNA11, or AP2S1. 2) Neonatal severe primary hyperparathyroidism is severest of the six syndromes. It requires urgent total parathyroidectomy in infancy. It usually reflects biallelic inactivation of the CASR. 3) Multiple endocrine neoplasia type 1 (MEN1) is most frequently expressed as PHPT with asymmetric enlargement of 3–4 parathyroids. Benign or malignant tumors may occur among 30 other tissues. It is predisposed by germline inactivation of MEN1 or rarely by inactivation of a cyclin dependent kinase inhibitor, and then termed MEN4. 4) Multiple endocrine neoplasia type 2A from RET activating mutation rarely presents as familial hyperparathyroidism, because medullary thyroid cancer and pheochromocytoma are more prominent. 5) Hyperparathyroidism-jaw tumor syndrome (HPT-JT) has frequent PHPT and benign jaw tumors. Twenty percent develop parathyroid cancer. It is predisposed by inactivating mutation in CDC73. 6) Familial isolated hyperparathyroidism causes multiple parathyroid tumors. It can be an incomplete expression of FHH, MEN1, HPT-JT or even of relatives without a shared driver mutation. However, in 20% of families it reflects GCM2 activating mutation. Five of the PHPT syndromes reflect overgrowth of parathyroid tissue; in contrast, familial hypocalciuric hypercalcemia reflects dysregulation of PTH secretion with little or no parathyroid overgrowth. These differences underlie major differences in clinical expression.

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