Screening using the Fracture Risk Assessment Tool (FRAX) is recommended in all postmenopausal woman and mеn over 50 (A1) in order to identify individuals with high probability of fractures. It is recommended to diagnose osteoporosis and start treatment in patients with fragility fracture of large bones of the skeleton and/or high individual probability of major fragility fractures (FRAX) and/or detected decrease in bone mineral density (BMD) up to –2.5 T-score as assessed by DXA in the femoral neck and/or lumbar vertebrae (A1). Patients with back pain, lifetime height loss of 4 cm or height loss of 2 cm since a previous medical examination, those who receive glucocorticoids, patients with long lasting decompensated type 2 diabetes mellitus, or those receiving insulin therapy, as well as patients who were previously diagnosed with fragility fractures at the other sites are advised to underwent standard lateral X-ray imaging of the spine (Th4—L5) in order to verify the presence of compression vertebral fractures (B1). Dual-energy X-ray absorptiometry (DXA) is recommended for individuals whose 10-year probability of major osteoporotic fracture (FRAX) falls within the medium risk group (B1). It is recommended to include the trabecular bone score (TBS) the FRAX algorithm in order to improve the sensitivity of this method (B1). Laboratory testing is recommended for the differential diagnosis with other causes of increased skeletal fragility in all patients with newly diagnosed osteoporosis and when previously prescribed antiosteoporostic treatment was ineffective (B1). Bisphosphonates (BPs), antibodies to receptor activator of nuclear factor kappa-beta ligand (RANKL) (denosumab), or parathyroid hormone analogue (teriparatide) are equally recommended to prevent fragility fractures and increase BMD in patients with osteoporosis (A1). Denosumab is also recommended to prevent BMD loss and fractures in females receiving aromatase inhibitors therapy for breast cancer and males with prostate cancer receiving hormone-deprivation therapy and having no bone metastases (A1). Since teriparatide has the anabolic effect, it is recommended as the first line treatment in patients with severe osteoporosis having history of vertebral fractures, in the individuals with very high risk of fragility fractures, or in the cases when antiresorptive treatment was ineffective (B1). All medications for treatment of osteoporosis are recommended in combination with calcium and vitamin D supplements (A1).

Ключевые слова : гипопаратиреоз, гипокальциемия, паратиреоидный гормон, гиперфосфатемия, терипаратид, рекомбинантный человеческий паратиреоидный гормон 1-84. Hypoparathyroidism is characterized by hypocalcaemia and normal or low levels of parathyroid hormone (PTH). The most common cause of hypoparathyroidism is damage to the parathyroid glands during anterior neck surgery. Conventional management of hypoparathyroidism is focused upon maintaining the serum calcium with oral calcium and active vitamin D, often requiring high doses and giving rise to concerns about long-term consequences including extracellular calcification and kidney stones. With current treatment, patients may suffer from large swings in serum calcium and are at a substantial risk of chronic renal failure, extracellular calcification. Replacement therapy of recombinant human PTH(1-84) can open up new opportunities for better control and improvement of quality of life.

Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome usually caused by small-sized tumors. Tumors secrete fibroblast growth factor 23 (FGF23), which has a phosphaturic effect. The clinical signs of TIO are non-specific, and include fatigue, bone pain and muscle weakness, which makes timely diagnosis of the disease difficult and treatment is often delayed. Well-timed diagnosis is essential and combined with complete tumor resection it leads to complete relief of symptoms and good postoperative prognosis. In cases of undetected tumors, medical treatment with phosphate supplements and active vitamin D medications is usually successful, however, treatment is associated with numerous complications and side effects can be burdensome for the patients. Due to the risk of recurrence or metastasis, patients with TIO require long-term management and follow-up. In this article, we present a clinical case of successful diagnosis and treatment of TIO in a young patient with type 1 diabetes mellitus.

Osteogenesis imperfecta (OI) and X-linked hypophosphataemia (XLH) are rare genetic diseases, which lead to childhood-onset bone fragility, low-trauma fractures and limb deformities. OI occurs as a result of impaired type 1 collagen synthesis at different stages, depending on the type of a genetic mutation, which leads to bone strength impairment. In most cases OI is a disorder with an autosomal dominant inheritance. However, there are also cases of autosomal recessive inheritance. To date, 16 types of OI are distinguished, with type 2 being the most severe due to 100% mortality rate in neonatal and perinatal periods. XLH is characterized by altered bone mineralization due to impaired phosphorus absorption and reabsorption, as a result of mutations in the PHEX gene. The bone tissue «softens», and this process is accompanied by deformities in long tubular bones. In this article we describe the family, in which both diseases are presented, despite their rarity. The case is investigated from points of view: the clinician’s and the patient’s perspective.

Sagliker syndrome is a rare complication of renal osteodystrophy, characterized by severe skeletal and cranium deformities, neurologic and soft tissue abnormalities in patients with chronic renal failure (CRF) and untreated secondary hyperparathyroidism. This article reports a 29-year-old female patient with end-stage CRF after 9 years of hemodialysis. She had severe secondary hyperparathyroidism, hyperplasia of three parathyroid glands and cranium and skeletal bone structure deformation. The first changes appeared after 4 years of therapy with peritoneal dialysis. They included uglifying face appearances, short stature, severe maxillary changes, chest deformity. During the examination we revealed severe tomographical and X-ray changes: maxillary and mandibular hyperplasia, temporomandibular articulation changes, affected cheekbones, sphenoid bone and bones of the cranial vault, fingertip changes, vertebral body compression. Although surgical parathyroidectomy was effective at biochemical abnormalities, severe bone deformities were not regressed. This case highlights the importance of clinicians’ attention for early monitoring and appropriate treatment of secondary hyperparathyroidism in patients with end-stage CRF.

АКТУАЛЬНОСТЬСД2 предопределяет развитие множественных ос-ложнений со стороны органов-мишеней, среди которых до недавнего времени не выделяли костную ткань. Уста-новлено, что СД2 является независимым фактором риска переломов, не связанным с увеличением индекса массы тела и повышенной частотой падений [1,2]. Данные эпи-демиологических исследований показывают, что пожилые люди с СД2 имеют более высокий риск остеопоротических переломов, при этом риск переломов конечностей увели-чивается на 50-80% [3,4].Известно, что МПК определяет примерно 70% общей прочности кости [5,6], однако данный параметр у пациен-тов с СД2, как правило, выше общепопуляционного уров-ня. [7] Этот парадокс объясняется тем, что показатель МПК не учитывает другие факторы, влияющие на прочность кости, такие как трабекулярная микроархитектура, корти-кальная макрогеометрия и скорость костного ремодели-рования. [8][9][10] Трабекулярный костный индекс (ТКИ) -это новый тка-невой показатель, оценивающий пиксельные отклоне-ния по шкале градаций серого на денситометрических изображениях поясничного отдела позвоночника [11].ТКИ ассоциирован с микроархитектоникой костной тка-ни и является независимым параметром, определяющим риск низкотравматичных переломов вне зависимости от МПК [12][13][14]. В крупном когортном исследовании было показано, что у пациентов с сахарным диабетом 2 типа ТКИ имеет лучшее прогностическое значение в отношении пе-реломов, чем МПК. [15] Во всем мире для определения 10-летней вероятности риска переломов и необходимости начала антиостеопоро-тической терапии используется алгоритм FRAX [16,17,18], который, однако, не учитывает СД2 в качестве причины вторичного остеопороза и основывается на МПК, таким образом, недооценивая риск переломов в когорте боль-ных с СД2. Тем не менее, модифицированный алгоритм FRAX, скорректированный по ТКИ, возможно использовать для оценки риска переломов у пациентов с вторичным остеопорозом, в том числе вследствие СД2.Ряд экспертов предлагает выделить остеопороз, воз-никший вследствие СД2, в отдельную нозологическую единицу под названием «диабетопороз». Необходимость введения новой категории в классификацию вторично-го остеопороза обусловлена особенностями патогене-за нарушения прочности кости при СД2, потребностью в определении четких критериев ранней диагностики Сахарный диабет 2 типа (СД2) ассоциирован с повышенным риском низкотравматичных переломов, при этом минеральная плотность костной ткани (МПК) не отличается или даже несколько превышает популяционную возрастную норму. Хруп-кость костной ткани при СД2 обусловлена нарушением микроархитектоники кортикальной ткани. Трабекулярный костный индекс (ТКИ) дает косвенное представление о состоянии микроархитектоники костной ткани при рутинной двухэнергети-ческой рентгеновской остеоденситометрии и обладает прогностическими свойствами в отношении низкотравматичных переломов. Представленный в статье клинический случай отражает современный взгляд на особенности диагностики и лечения остеопороза при СД2 с множественными осложнениями и наличием сопутствующей эндокринной...

Pachydermoperiostosis (PHO) or primary hypertrophic osteoarthropathy is a rare genetic disease that typically begins during childhood or adolescence. It is characterized by digital clubbing, pachydermia and periosteal reaction and progresses gradually over the years prior to disease stabilization. Two genes are reported to be associated with PHO – HPGD and SLCO2A1. These genes are involved in prostaglandin E2 metabolism. We present a description of a 19-year-old patient with PHO. We found two mutations in the SLCO2A1 gene: p.Gly183Ar (chr3:133673888, NM_005630.2:c.547G>A) and p.Cys444Gly (chr3:133664070, NM_005630.2:c.1330T>G) through molecular genetic analysis. The mutation (p.Cys444Gly) has never been recorded in previous studies. This work expands our knowledge of the mutation spectrum of PHO, which will facilitate faster genetic diagnosis and interpretation of genetic information in prenatal diagnosis and genetic counseling.

Despite the fact that pituitary adenomas are among the most frequent brain tumours, TSH-secreting pituitary adenomas (thyrotropinomas) are less than 1% of all adenomas. Due to the increase in the free fractions of thyroid hormones at normal or elevated TSH levels, the majority of patients with these pituitary adenomas have a long anamnesis of thyrotoxicosis which requires a differential diagnosis with thyroid pathology (Graves’ disease, toxic adenoma, autonomously functioning thyroid nodules). The diagnosis of the thyrotropinoma is quite challenging for clinicians. This article describes the case of a combination of the thyrotropinoma with primary hypothyroidism as a result of the Hashimoto’s disease. A feature of this article is the absence of a typical clinical picture of thyrotoxicosis in combination with an evaluated level of TSH on the background of constantly increasing substitution therapy for primary hypothyroidism. The picture of space-occupying lesion according to MRI of the brain allowed to suspect hormone-active pituitary adenoma (macroadenoma). As a result of surgical treatment (endonasal transsphenoidal adenomectomy), the level of TSH and free thyroid hormone levels were normalized in the postoperative period. The diagnosis of TSH-secreting pituitary adenoma was confirmed by histological and immunohistochemical analysis of postoperative material.