Bone Health ECHO Case Report: Rare Cases of Hypophosphatemia and Low-Traumatic Fractures in Patients with Type 1 Diabetes Mellitus.

Bone Health ECHO (Extension of Community Healthcare Outcomes) is a virtual community of practice that has been connecting healthcare professionals online once weekly for the past 10 years. A key component of each ECHO session is presentation and discussion of patient cases with diagnostic and treatment dilemmas. Here we present two wheelchair-bound female patients aged 47 years (Patient 1) and 34 years (Patient 2), both with type 1 diabetes mellitus (T1DM).

[Non-classical hormones from the fibroblast growth factor family].

Fibroblast growth factors (FGFs) are a group of signaling molecules named for their ability to promote the growth and proliferation of fibroblasts and various other cell types. Typically, FGFs exert their effects locally by binding to receptors within the tissues where they are synthesized. However, certain members of this family, such as FGF 19, FGF 21, and FGF 23, diverge from this pattern.

[Analysis of the provision of medical care using telemedicine technologies at the endocrinology research centre].

Background: In the first months after the pandemic of the COVID-19, the provision of medical care through telemedicine technologies took a leading position, in particular regarding endocrine nosologies. Meanwhile, at present, comprehensive information on telecommunications interaction between doctors of various medical organizations of the regions of the Russian Federation and employees of federal centers is insufficient, which determines the relevance of studying this topic.

Aim: Analysis of the provision of medical care in remote interaction of medical workers using telemedicine technologies («doctor-doctor») between the Endocrinology Research Centre and the regions of the Russian Federation in 2019-2023.

[Features of true gynecomastia in adult males].

Background: In recent years, the incidence of gynecomastia in adult men has increased significantly. It is of interest to study the specific features of the disease in these patients.

Aim: To identify the main characteristics of acute gynecomastia in adult men.

[Clinical case of plurihormonal pituitary adenoma (STH/ACTH/TSH/FSH/LH-secreting), diagnostic pitfalls].

According to numerous studies, the most common pituitary tumors are prolactinomas, reaching 60% of all clinically significant adenomas, the next in order are non-functional pituitary adenomas, somatotropinomas, corticotropinomas and thyrotropinomas. Plurigormonal tumors occur in less than 1% of all pituitary adenomas. The most common form of mixed secretion adenoma in this patient population, derived from the Pit-1 cell line, produces various combinations of hormones: growth hormone (GH), prolactin (PRL), thyroid-stimulating hormone (TSH).

scRNA sequencing technology for PitNET studies.

Pituitary neuroendocrine tumors (PitNETs) are common, most likely benign tumors with complex clinical characteristics related to hormone hypersecretion and/or growing sellar tumor mass. PitNET types are classified according to their expression of specific transcriptional factors (TFs) and hormone secretion levels. Some types show aggressive, invasive, and reoccurrence behavior.

[Thyrotropin-secreting pituitary adenomas: clinical features and results of treatment in 45 patients].

Background: Thyrotropin-secreting pituitary adenomas (TSH-PA) are a rare cause of thyrotoxicosis and account for 0.5-2% of all pituitary adenomas. Taking into account the rarity of the disease, it is extremely important to analyze each case of TSH-PA.

[Ectopic acromegaly due to bronchial neuroendocrine tumors: the first description in Russia of three clinical cases].

 Acromegaly is a neuroendocrine disorder caused by excessive production of growth hormone (GH). In the majority of cases the cause of acromegaly is a pituitary tumor producing GH. Cases of ectopic acromegaly are much rarer.

[Machine learning methods in differential diagnosis of ACTH-dependent hypercortisolism].

Aim: To develop a noninvasive method of differential diagnosis of ACTH-dependent hypercortisolism, as well as to evaluate the effectiveness of an optimal algorithm for predicting the probability of ectopic ACTH syndrome (EAS) obtained using machine learning methods based on the analysis of clinical data.

Materials And Methods: As part of a single-center, one-stage, cohort study, a retrospective prediction of the probability of EAS among patients with ACTH-dependent hypercortisolism was carried out. Patients were randomly stratified into 2 samples: training (80%) and test (20%).

[Plasma miRNA expression in patients with genetically confirmed multiple endocrine neoplasia type 1 syndrome and its phenocopies].

Background: MEN-1 is a rare autosomal dominant disease caused by mutations in MEN1 gene encoding the menin protein. This syndrome is characterized by the occurrence of parathyroid tumors, gastroenteropancreatic neuroendocrine tumors, pituitary adenomas, as well as other endocrine and non-endocrine tumors. If a patient with the MEN-1 phenotype carry no mutations in the MEN1 gene, the condition considers a phenocopy of syndrome (phMEN1).

[Diagnostic value of bilateral inferior petrosal sinus sampling in various modifications and methods of radiation and radionuclide imaging in the diagnosis and differential diagnosis of ACTH-dependent endogenous hypercortisolism].

Aim: To analyze the diagnostic performance of bilateral inferior petrosal sinus sampling (BIPSS) with desmopressin as a stimulation agent and prolactin measurements to control catheter position with or without the ACTH/prolactin normalized ratio calculation in the differential diagnosis of ACTH-dependent endogenous hypercortisolism, and the diagnostics performance of ectopic ACTH-syndrome (EAS) visualization.

Materials And Methods: A single-center diagnostic study with a retrospective analysis of the data was carried out. The study included patients with ACTH-dependent endogenous hypercorticism with no visualization of pituitary adenoma on MRI or adenoma sizes less than 6 mm.

[Clinical features, diagnostics and treatment of FGF23 secreting tumors: series of 40 clinical cases].

Introduction: Tumor-induced osteomalacia is an acquired rare disease manifested by hypophosphatemic osteomalacia due to excessive secretion of fibroblast growth factor 23 (FGF23). FGF 23 is a non-classical hormone secreted by bone tissue (osteocytes) and regulates phosphorus metabolism.The aim of this work is to present clinical experience in the diagnosis, treatment and rehabilitation of patients with tumor-induced osteomalacia.

[Predicting the presence of gene mutation based on the clinical phenotype of patients with primary hyperparathyroidism].

Background: Timely referral of patients for genetic testing to rule out MEN1-associated primary PHPT is important factor in determining treatment strategy and prognosis. In the context of the limited availability of genetic testing, the search for clinical markers indicative of MEN1 gene mutations remains an extremely relevant task.

Aim: To determine the diagnostic value of clinical features of primary PHPT in young patients for predicting the presence of MEN1 gene mutations.

The Russian registry of primary hyperparathyroidism, latest update.

Introduction: Until recently no major epidemiological research of primary hyperparathyroidism (PHPT) has been conducted in the Russian Federation, this led to the creation of the Russian online registry. The objective of this study is to estimate the clinical and biochemical profile, classical and non-classical complications, surgical intervention and medical therapy of the patients with different forms of PHPT in the Russian Federation.

Materials And Methods: The cross-sectional, observational, continuous study was conducted at the Endocrinology Research Centre (Moscow).

[Features of steroidogenesis and arterial hypertension in men in different types of "physiological" male hyperandrogenism].

Aim: To reveal the peculiarities of steroidogenesis and arterial hypertension in «physiological» hyperandrogenism in men.

Materials And Methods: One-stage simultaneous study. The groups of men with hyperandrogenism caused by increased total testosterone (n=34) and those with hyperandrogenism caused by increased dihydrotestosterone (DHT) (n=66) were compared.

[Acromegaly in the differential diagnosis of hearing loss].

Acromegaly is a multifactorial neuroendocrine disease caused by hyperproduction of growth hormone (GH). In more than 95% of cases the reason of acromegaly the GH-secreting pituitary adenoma. In patients with this neuroendocrine disease, a slowly developing complex of symptom can manifest with concomitant pathological conditions, including auditory function disordersDiagnostic difficulties of acromegaly at the ambulatory stage determine the importance of doctor`s awareness in different medical specialties.

[Alemtuzumab-induced Graves' disease].

Multiple sclerosis (MS) is a severe chronic autoimmune demyelinating disease of the central nervous system, mediated by Th1/Th17 lymphocytes as well as B lymphocytes, macrophages and other immune cells. Some patients with MS are treated with alemtuzumab, a monoclonal antibody against CD52+ cells, which belongs to the disease-modifying therapies (DMTs). The main effect of alemtuzumab is related to changes in immune recruitment.

[Determination of prolactin reference intervals in different age groups].

Background: Clinical diagnostic laboratories (CDL) have at their disposal various automated systems for the measurement of biochemical parameters and markers such as prolactin. Each of the test systems manufactures offers its own alternate design of the method, which makes standardization difficult. In endocrinological practice, the problem of result discrepancies often arises.

Serum Vitamin D Metabolites by HPLC-MS/MS Combined with Differential Ion Mobility Spectrometry: Aspects of Sample Preparation without Derivatization.

In current clinical practice, a thorough understanding of vitamin D metabolism is in high demand both for patients with various diseases and for healthy individuals. Analytical techniques that provide simultaneous measurement of multiple metabolites are preferred. Herein, the development of an HPLC-DMS-MS/MS method for the quantitation of vitamin D compounds (25(OH)D, 25(OH)D, 1,25(OH)D, 3-epi-25(OH)D, 24,25(OH)D, and D) in serum is described.

Denosumab for osteoporosis in patients with primary hyperparathyroidism and mild-to-moderate renal insufficiency.

Purpose: We aimed to assess the efficacy and safety of denosumab in postmenopausal women with primary hyperparathyroidism (PHPT)-related osteoporosis and chronic kidney disease (CKD).

Methods: Women over 50 years of age with PHPT or postmenopausal osteoporosis (PMO) were retrospectively recruited into this longitudinal study. These PHPT and PMO groups were further categorized into subgroups based on the presence of CKD (Glomerular filtration rate (GFR) < 60 mL/min/1.

[What newly brought endocrinology by the past 2022?].

In the past year, the Federal Project "Fight against Diabetes" 2023-2030 was developed in detail and submitted in detail and submitted to the Government of the Russian Federation, which will significantly improve the practice of working with patients with diabetes, providing them with maximum availability of medical care, including in updated and technologically re -equipped regional endocrinological centers, reviving the active work of "Diabetes schools", "Diabetic foot" rooms, diagnostic laboratories, introducing new forms of communication with patients, including using personal assistants of a doctor, continuous technologies for monitoring glycemia, etc.

A Novel GNAS Mutation in a Patient with Ia Pseudohypoparathyroidism (iPPSD2) Phenotype.

Pseudohypoparathyroidism (PHP) is a heterogeneous orphan disease characterized by multihormonal resistance and several phenotypic features. In some cases, PHP is caused by a mutation in the that encodes the alpha subunit of the G protein, one of the key transmitters of intracellular signals. A correlation between the genotype and phenotype of patients with mutations has not yet been described.

[Short-term and long-term remission after endoscopic transnasal adenomectomy in patients with acromegaly].

Background: Neurosurgery is the most effective treatment for acromegaly. As most of the patients present with macroadenomas, surgical treatment is not always successful, even with the expert level of a neurosurgeon. Assessment of the postoperative remission rates in acromegaly preoperative predictors of treatment efficacy is an urgent task of modern research.

[Survival predictors in patients with ectopic acth syndrome].

Aim: To determine significant factors affecting the survival of patients with ectopic ACTH syndrome (EAS).

Materials And Methods: A multi-center, observational study with a retrospective analysis of patients with EAS. The end point of the study was the fatal outcome of patients from various causes.