Hereditary forms of primary hyperparathyroidism

Multiple endocrine neoplasia type 1 syndrome (MEN1) is a rare inherited disorder that can include combinations of more than 20 endocrine and non-endocrine tumors. Unfortunately, none of the described MEN1 mutations has been associated with a peculiar clinical phenotype, even within members of the same family, thus a genotype-to-phenotype correlation does not exist. MEN1 syndrome is the most common cause of hereditary primary hyperparathyroidism (PHPT), the disease penetrance of which exceeds 50% by the age of 20 and reaches 95% by the age of 40. At the same time, PHPT with hyperplasia or adenomas of the parathyroid glands (PTG) is the most distinctive manifestation of the MEN1 syndrome. One of the main symptoms of PHPT, both in sporadic and hereditary forms of the disease, is bone damage. At the time of diagnosis in PHPT/MEN1, the bone mineral density is generally lower in comparison with the sporadic form of PHPT. This may be due to excessive secretion of parathyroid hormone during the period of peak bone mass, concomitant components of the syndrome, extended surgical treatment, and the direct effect of a mutation in the menin gene on bone remodeling. This clinical case describes a young patient with severe bone complications of PHPT and uncertain rare MEN1 mutation. PHPT was diagnosed five years later from the first onset of bone complications and repeated orthopedic operations. There was the «hungry bones» syndrome after successful surgery of PHPT, which was managed with vitamin D and calcium carbonate supplementation and there is a positive dynamic in increased bone mineral density in the main skeleton after 6 months.

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Severe bone complications of primary hyperparathyroidism in a young patient with the rare verified mutation of <i>MEN1</i>

Eremkina

Sazonova

Bibik

et al. 2022

Probl Endokrinol (Mosk)

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Case of clinically “aggressive” course of primary hyperparathyroidism, algorithm of differential diagnosis

Matyushkina

Горбачева

Tkachuk

et al. 2022

Probl Endokrinol (Mosk)

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Primary hyperparathyroidism (PHPT) is a significant endocrine disease caused by increased production of parathyroid hormone (PTH) by altered parathyroid glands and violation of the mechanisms of regulation of serum calcium concentrations. These changes can lead to nephrolithiasis, osteoporosis, erosive and ulcerative lesions of the gastrointestinal tract, a number of less specific symptoms (nausea, vomiting, weakness, fatigue, etc.). Etiologically, in more than 85% of cases, PHPT is a consequence of sporadic solitary adenoma or hyperplasia parathyroid glands, however, in 1–3% of cases, the cause is carcinoma of parathyroid glands , including as part of various genetic syndromes. The importance of timely examination for PHPT of patients with characteristic clinical manifestations of this disease and — with an aggressive course — alertness towards carcinomas of parathyroid glands was noted. At the same time, the severity of the clinical picture and even the presence of suspicious signs characteristic of hereditary forms of carcinomas of parathyroid glands are not always a consequence of the malignant process. We present a description of a young patient with a severe course of PHPT, multiple fractures and a voluminous tumor of the upper jaw, developed as a result of a typical adenoma of parathyroid glands. Additionally, the algorithm of pre- and postoperative differential diagnosis for such patients is highlighted.

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Рreoperative diagnosis of parathyroid gland pathology by methods of radiological diagnostics

Поспелов

2021

Lučevaâ diagn. ter.

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Introduction. Recently, surgeons have been using minimally invasive methods to treat parathyroid gland pathology. More selective surgical approaches are based on the accuracy of preoperative diagnostic methods. Various radiological diagnostic techniques are used to visualize parathyroid gland pathology. New modalities are entering clinical practice along with long-known techniques. The attending physician should be guided by the most clinically effective and economically reasonable algorithm when choosing diagnostic algorithm. The aim of the study was to find the optimal diagnostic protocol for preoperative diagnosis of parathyroid gland pathology on the basis of available data. Conclusion. Preoperative imaging of parathyroid glands continues to evolve with changes of old techniques and appearance of new ones, though none of modalities has a clear advantage. The choice of imaging algorithm is largely based on the availability of techniques and the experience of particular diagnostic centers. Ultrasound and planar scintigraphy are well established and most widely used. The combination of these techniques remains the first line of diagnosis in preoperative imaging. However, there is no consensus on the choice between planar scintigraphy tech niques: the washout method or the subtraction method. Replacing planar scintigraphy with SPECT/CT improves the detectability of pathological masses and clarifies their topographic location. Computed tomography and MRI techniques are used as a second-line technique and have an advantage in small adenoma sizes, multiple lesions, ectopias, reoperations, and in case of ambiguous ultrasound and scintigraphy data. The significance of PET/CT in the diagnosis of thyroid pathology has not yet been defined, the data are still scarce and published studies are very heterogeneous, but due to the excellent diagnostic characteristics the method seems very promising, in particular in patients with persistent disease.

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Hereditary forms of primary hyperparathyroidism

Cited by 5 publications

References 43 publications

Severe bone complications of primary hyperparathyroidism in a young patient with the rare verified mutation of <i>MEN1</i>

Severe bone complications of primary hyperparathyroidism in a young patient with the rare verified mutation of <i>MEN1</i>

Case of clinically “aggressive” course of primary hyperparathyroidism, algorithm of differential diagnosis

Рreoperative diagnosis of parathyroid gland pathology by methods of radiological diagnostics

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