A CASE OF PRIMARY HYPERPARATHYROIDISM

Первичный гиперпаратиреоз - одно из распространенных, но трудно диагностируемых в реальной клинической практике эндокринных заболеваний у взрослых. Актуальность данной публикации определяется высокой частотой заболевания у лиц старше 40 лет. Риск его возникновения у людей 40-50 лет достигает 2%. Имеются все основания считать, что данный показатель с течением времени будет увеличиваться, поскольку согласно прогнозам отдела народонаселения Организации Объединённых Наций от 2001г. удельный вес пожилых людей к 2050г. в мире достигнет 21% в сравнении с 10% в 2000г. Особенно подвержены первичному гиперпаратиреозу женщины менопаузального возраста, у которых заболевание встречается с частотой 1:500. В большинстве случаев первичный гиперпаратиреоз возникает вследствие солитарной доброкачественной аденомы паращитовидных желез. В данной статье представлен случай аденомы паращитовидной железы с развитием гиперкальциемического криза у женщины в возрасте 49 лет, выбор дальнейшей тактики ведения - консервативное или оперативное лечение, а также рекомендации по наблюдению в динамике. Приведенный случай будет интересен специалистам как терапевтического, так и хирургического профиля. Primary hyperparathyroidism is one of the common but difficult to diagnose endocrine diseases in adults in real clinical practice. The relevance of this publication is determined by the high incidence of the disease in persons over 40 years of age. The risk of its occurrence in people 40-50 years old reaches 2%. There is every reason to believe that this figure will increase over time, since according to the projections of the UN Population Division for 2001, the proportion of elderly people in the world will reach 21% by 2050, compared with 10% in 2000. Menopausal women are especially susceptible to primary hyperparathyroidism which the disease occurs with a frequency of 1: 500. In most cases, primary hyperparathyroidism occurs due to solitary benign adenoma of the parathyroid glands. This article presents a case of parathyroid adenoma with the development of a hypercalcemic crisis in a woman aged 49 years, the choice of further management tactics - conservative or surgical treatment, as well as recommendations for monitoring over time. The given case will be of interest to specialists of both therapeutic and surgical profile.

Thyroid incidentaloma: next to be neglected or investigated?

In modern clinical practice, thyroid incidentaloma is an unpalpated node in the thyroid gland, which is detected accidentally by technical means of imaging when examining a patient for other, non-thyroid diseases. Its dimensions are limited to 10 mm, the limit above which it can already be palpated by a qualified professional. In the author’s view, such a definition narrows the concept of incidentaloma, primarily from a nosological point of view. Under the definition of the node can be micro- or macrofollicular nodular goiter, tumor, benign (adenoma) or malignant (carcinoma), the focus of thyroiditis, cyst, inflammatory focus (infiltrate, abscess), calcifications. When enumerating the me­thods of detection by incidental, the palpation method is excluded and the nodes in the thyroid gland detected with its help are not only up to 10 mm in size but also larger, which should also be called incidental. The same can be said about the nodes that are accidentally found on the neck during operations for diseases of the trachea, cervical esophagus, salivary glands. Speaking of incidentalomas, which are detected at autopsy, it should be noted that some of them are larger than 10 mm. All these positions do not fit into the definition of thyroid incidentaloma only as an unpalpated node in the thyroid gland up to 10 mm, which is determined by instrumental imaging methods. Therefore, the concept of thyroid incidentaloma is broader and more capacious than formulated by its modern definition. Incidental thyroid disease should be considered any additional formation in it, regardless of its size, detected by any non-target method of research. Unpalpated and, as a rule, clinically “dumb” nodes up to 10 mm, determined by instrumental methods, can be considered as one of the subspecies of the incidentaloma. The frequency of their detection has increased sharply in recent years, some are malignant neoplasms with an unpredictable course, tactical approaches to them have not been finalized.

Novel Method in Performing PTH Washout for Localizing Parathyroid Adenoma: Case Report & an Institute Experience in Qatar

Introduction: Primary hyperparathyroidism (PHPT) is a common cause of hypercalcemia and mostly caused by benign solitary benign adenoma (80 to 85 %). Definite treatment is the surgical removal. The most commonly used diagnostic modalities are Sestamibi scan and neck ultrasound (US) which can be inconclusive in some cases. Parathyroid hormone (PTH) washout obtained with ultrasound guided FNA may be useful to accurately localize the adenoma. In our study we describe a novel method for PTH washout. Methods: First, blood samples are drawn from the patient’s peripheral vein and placed in two yellow top tubes (3 ml of blood in each tube). 1 ml of normal saline (NS) will be add to Tube # 1 (Control tube). The suspected parathyroid lesion aspirate is obtained via US guided FNA. It is washed in 1 ml of NS and added to tube #2 (PTH washout tube). Both tubes are sent to our local laboratory for PTH assay. The ratio of PTH in PTH washout tube to control tube (PTH W/C ratio) is calculated and considered positive if more than 2. Results: Total 16 patients (12 females and 4 males) underwent the PTH washout procedure. All patients had PHPT. Out of 16 patients, 13 had inconclusive Sestamibi scan while 3 patients didn’t have the scan due to pregnancy. PTH W/C ratio was positive in 13 patients (ruled in) and negative (ruled out) in 3 patients. All patients underwent parathyroid surgery. The operative findings and pathology report were consistent with PTH W/C ratio findings. i.e. parathyroid hypercellularity was found in all the 13 patients ruled in by PTH W/C ratio. Post-surgery, biochemical parameters normalized in all. Conclusion: PTH washout is an important tool in localizing parathyroid lesion in PHPT when Sestamibi scan cannot be done or if it is inconclusive. PTH W/C ratio can be performed with our novel method to accurately localize the PTH lesion and improve surgical outcome.

Normotensive presentation in primary aldosteronism: A report of two cases

Normotensive patients with primary aldosteronism (PA) are relatively rare. Herein, we report two patients with normotensive PA and present a literature review to improve an understanding of the disease. Patient 1, a 56-year-old man, presented with recurrent hypokalemia that lasted for more than 2 years. Patient 2 was a 33-year-old man who presented with sexual dysfunction and was diagnosed with a prolactinoma combined with adrenal insufficiency and hypogonadism. Neither of these patients had hypertension that was detectable on repeated manual measurements. In both patients, a typical biological profile of PA was demonstrated that included hypokalemia with kaliuresis, elevated plasma aldosterone concentration (PAC), suppressed plasma renin concentration, and a high aldosterone-to-renin ratio. Both patients did not have sufficiently suppressed PAC on the saline infusion test, confirming the diagnosis of PA. Computed tomography of the adrenal gland and adrenal venous sampling suggested an aldosteronoma, which was confirmed by lateralized hypersecretion of aldosterone. After removal of the benign adenoma, the biochemical abnormalities were corrected. As hypertension is not necessarily a sign of PA, we propose that all patients with hypokalemia should be screened for PA in order to prevent cardiovascular complications while balancing economics and effectiveness.

Uterine adenoma

Before talking about uterine adenoma in general, the author is trying to bring some clarity to the confusing nomenclature of endometrial diseases. Mucous polyps, endometritis fungosa, true adenoma, adenomatous polyp, benign adenoma and adeno-carcinoma, all described by various authors as variations of true adenoma.

Rare Somatic MEN1 Gene Pathogenic Variant in a Patient Affected by Atypical Parathyroid Adenoma

Objective. Atypical parathyroid adenoma is a rare neoplasm, showing atypical histological features intermediate between classic benign adenoma and the rarest parathyroid carcinoma, whose the clinical behaviour and outcome is not yet understood or predictable. Up to date only two cases of atypical adenoma were found associated to a MEN1 syndrome, and only one was proved to carry a pathogenic variant of the MEN1 gene. Design. We report the clinical, histologic, and molecular findings of a 44-year-old woman, presenting with a histologically proved atypical parathyroid adenoma with an apparent aggressive behaviour. Methods and Results. CDC73 gene was screened at germline and somatic levels with no results. Whole exome sequencing performed on DNA extracted from blood leukocytes and tumour tissue revealed a somatic MEN1 gene heterozygous variant, c.912+1G > A, of the splicing donor site of exon 6. On immunohistochemistry, downregulation of the menin protein expression in the neoplastic cells was also observed. Conclusions. We report the second case of a rare association of a somatic MEN1 gene mutation in a patient with atypical parathyroid adenoma. We suggest that MEN1 gene could be an underestimate genetic determinant of these rare histological entities, and we highlight the utility of a complete genetic screening protocol, by the use of next-generation sequencing technology in such undetermined clinical cases with no frank clinical presentation.