Objective To analyze the clinical presentations of patients with endogenous Cushing’s syndrome (CS) affected by Coronavirus disease-19 (COVID-19). Materials and methods Patients who were referred to our clinic with active CS from 31st March to 15th May 2020 were screened for COVID-19 using real-time reverse transcriptase–polymerase chain reaction (RT-PCR). Late-night serum cortisol (64–327 nmol/L), late-night salivary cortisol (LNSC) (0.5–9.4 nmol/L), or 24-h urinary free cortisol (24 hUFC) (100–379 nmol/24 h) were measured by electrochemiluminescence immunoassay. Results Among 22 patients with active CS we found three cases affected by COVID-19. Nonspecific inflammation markers were within the reference range or slightly elevated in these patients. A 71-year-old woman with newly diagnosed CS (late-night serum cortisol >1750 nmol/L, LNSC 908.6 nmol/L) developed dyspnea as an only symptom and died from bilateral polysegmantal hemorrhagic pneumonia 7 days later. A 38-year-old woman with a 5-year medical history of active Cushing’s disease (CD) (late-night serum cortisol 581.3 nmol/L, 24 hUFC 959.7 nmol/24-h) suffered from dyspnea, cough, fever (39.3 °C) and chest pain. Oxygen therapy, antibiotics and symptomatic treatments lead to full recovery 24 days later. A 66-year-old woman with a 4-year medical history of mild CD (late-night serum cortisol 603.4 nmol/L, LNSC 10.03 nmol/L) tested positive for COVID-19 in routine screening and remained asymptomatic. Conclusions The outcome of COVID-19 in patients with CS depends on the severity of hypercortisolism. Thus, severe hypercortisolism is a warning sign that CS affected by COVID-19 could require emergency care despite a lack of clinical presentations and low inflammation biomarkers.

Background: The registry is the main source of information about patients with acromegaly for assessing the quality of medical care, treatment effectiveness, determining the compliance of real clinical practice with existing standards and patient management. Aims: To analyze epidemiological, demographic and clinical characteristics of acromegaly in the Russian Federation and the effectiveness of various treatment methods. Materials and methods: The object of the study was the database of Russian registry of patients with pituitary tumors with specific analysis of patients with acromegaly only. We analyzed the data of 4114 patients with acromegaly stored on the online system in February 2019. Results: Based on the data 32% of patients had complete clinical and laboratory remission of acromegaly; percentage of patients with no remission was 68%, among them 22.5% had significant improvements in clinical symptoms and a decrease in GH and IGF1 without IGF1 normalization. The average age of patients at the onset of the disease was 42.7 years and at diagnosis 45.8 years. Men to women ratio was 1:2.6. In patients with acromegaly hypopituitarism was registered in 14.7% of cases and among them hypothyroidism (66%) and hypogonadism (52%) were registered more often. Among other complications the leading were diabetes mellitus (15.7%) and acromegalic arthropathy (15%). The proportion of patients receiving neurosurgical treatment increased from 35.7% to 49.6% in 2012-2019; the percentage of patients undergoing radiation therapy decreased significantly from 17.7% in 2012 to 0.8% in 2019. Remission was achieved in 40.47% after neurosurgery and 28.95% after medical treatment as a first line therapy p0.01. The number of patients receiving medical treatment at the time of the study was 1209. Among them 51% of patients treated with long-acting lanreotide and 24% receiving long-acting octreotide achieved remission (p0.0001) Conclusions: The remission rate of acromegaly remains suboptimal despite increased surgical activity, which corresponds to global trends. Long-acting lanreotide was significantly superior versus long-acting octreotide in the rate of acromegaly remission, which does not correspond with clinical trials and can be explained by the usage of different generic forms of octreotide, regional differences in medical supply and difficulties in long-acting octreotide injection vs lanreotide.

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Osteoporosis is the most common cause of low bone mineral density (BMD) and low-traumatic fractures in adults. However, differential diagnosis should also consider other causes of decreased BMD, including osteomalacia, as treatment for these conditions vary significantly. Osteomalacia is a systemic disorder characterized by decrease in bone strength due to of excessive accumulation of non-mineralized osteoid and uncoupling between bone matrix formation and mineralization. Osteomalacia in adults mostly develops due to severe vitamin D deficiency of any etiology, less often along with kidney pathology, mesenchymal tumors secreting fibroblast growth factor 23 or hereditary metabolic bone diseases. Clinical symptoms of osteomalacia are nonspecific and mostly manifest by generalized diffuse bone pain, muscle weakness, skeletal deformities and often go unnoticed at initial stage of the disease. Histomorphometric examination is the most accurate method of the diagnosis, which allows assessment of bone formation rate and calcification. The utmost priority of the treatment of osteomalacia of any etiology is the elimination of vitamin D deficiency, hypocalcemia, hypophosphatemia and prevention of bone deformities progression and muscle hypotension.

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Aim. To study the clinical, biochemical characteristics, treatment results and follow-up of patients with ectopic ACTH syndrome EAS (ACTH adrenocorticotropic hormone ). Materials and methods. A retrospective, observational, single-center study of 130 patients with EAS. Demographic information of patients, medical history, results of laboratory and instrumental investigations at the pre- and postoperative stages and follow-up of EAS were analyzed. Results. The mean age at the diagnosis ranged from 12 to 74 years (Me 40 years [28; 54]). The duration of the disease from the onset of symptoms to the verification of the diagnosis varied from 2 to 168 months (Me 17.5 months [7; 46]). Eighty-one (62,3%) patients had bronchopulmonary NET, 9 thymic carcinoid, 7 pancreatic NET, 5 pheochromocytoma, 1 cecum NET, 1 appendix carcinoid tumor, 1 medullary thyroid cancer and 25 (19.2%) had an occult source of ACTH. The median follow-up period of patients was 27 months [9.75; 61.0] with a maximum follow-up of 372 months. Currently, primary tumor was removed in 82 (63.1%) patients, bilateral adrenalectomy was performed in 23 (18%) patients, in 16 of them there was an occult source of ACTH-producing NET and in 7 patients in order to control hypercortisolism after non-successful surgical treatment. Regional and distant metastases were revealed in 25 (19.2%) patients. At the time of the last observation 59 (72%) patients were exhibited a full recovery, 12 (14.6%) had relapse of the disease and 26 (20%) died from multiple organ failure (n=18), pulmonary embolism (n=4), surgical complications (n=2), disseminated intravascular coagulation syndrome (n=1) or COVID-19 (n=1). Conclusion. In our cohort of patients bronchopulmonary NET are the most frequent cause of EAS (62.3%). Surgical treatment leads to remission of hypercortisolism in 72% cases; the proportion of relapse (14.6%) and fatal outcome (20%) remains frequent in EAS.

Medulloblastoma is the most common childhood malignant tumor of the posterior cranial fossa. A comprehensive treatment approach, including surgery, polychemotherapy and radiation therapy, inevitably leads to the development of various long-term consequences from the endocrine system, including a negative impact on bone tissue. Reduced linear growth rate, low adult height and low peak bone mass are well-known long-term effects of treatment. Based on data from Russian and foreign researchers, as well as our own experience, this review presents the endocrine consequences of treatment of malignant tumors of the central nervous system in childhood and adolescence, and summarizes the risk factors for various endocrine system disorders, including a decrease in bone mineral density (BMD). The review pays special attention to the assessment of BMD in a group of patients who have had cancer in childhood and adolescence and have undergone complex treatment, as well as the prevention and treatment of osteoporosis in children.

Hypophosphatasia (HPP) is a rare hereditary metabolic disease characterized by defective bone and dental mineralization, systemic complications that lead to disability of patients. HPP is classified into six forms according to the age of onset and severity of its clinical picture. The disease is caused by a reduced activity of the tissue nonspecific alkaline phosphatase (TNSALP) and elevated concentrations of pyrophosphates. Asfotase alfa is the only pathogenetic enzyme replacement therapy with recombinant human bone-targeted TNSALP approved for treatment of patients with perinatal, infantile and juvenile‐onset HPP. This treatment is associated with improved skeletal mineralization, respiratory function and overall survival in infants and young children with life-threatening hypophosphatasia. The world experience in application of recombinant alkaline phosphatase in adults is very limited. We present a clinical case that describes the first Russian experience in the use of asfotase alfa in an 18-year-old patient with late diagnosis of childhood-onset HPP.