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Pseudohypoparathyroidism (PHP) is a clinically heterogeneous group of rare inherited bone diseases characterized by resistance of target organs to the action of parathormone (PTH) as result of an epi/genetic disorder.This article describes patients with the phenotype of pseudohypoparathyroidism type 1a in whom two previously undescribed variants in the GNAS gene were identified: NM_000516.7(GNAS):c.586-18_591del, which captures intron 7, exon 8 acceptor splice site and exon 8 splice site resulting in a 24 nucleotide deletion, and NM_000516.7(GNAS):c.201del p.Phe68LeufsTer32 resulting in a reading frame shift and a premature termination codon in two unrelated children with progressive weight gain from birth. According to the pathogenicity evaluation criteria, both variants are categorized as likely pathogenic variants

Adipose tissue, known as body fat, plays a crucial role in human health and disease. Traditionally viewed as a storage site for excess energy as body fat, advances in medical research have shown the complex and dynamic nature of adipose tissue, highlighting its critical role in the regulation of metabolism, hormone production, and immune response. Adipose tissue is subdivided into two types – lipids accumulating white adipose tissue (WAT) and brown adipose tissue (BAT), color of which is determined by the load of mitochondria; the beige adipose tissue (BeAT) is a mix of WAT and BAT cells. This review aims to explore the multifaceted aspects of WAT, focusing on key areas: the diverse cell types comprising WAT and their unique functions, the major genes expressed and secreted from adipose tissue cells, the role of adipose tissue in inflammation, and the sex-specific differences in adipose tissue transcriptomes. Understanding the intricate dynamics of adipose tissue in the context of secreted factors having systemic effects, including inflammatory response, is essential, given its central role in maintaining energy balance and metabolic homeostasis in health issues like obesity, type 2 diabetes, and cardiovascular diseases. Examining adipocyte-specific transcriptomes gives an understanding of the unique characteristics of these cells. The dimorphic nature of adipose tissue not only influences body fat distribution but also affects disease susceptibility and response to treatment. Additionally, this review will cover the increasingly recognized role and the intriguing effects of plant extracts on adipogenesis, which offer potential therapeutic avenues for treating obesity and its related disorders.

Acromegaly is a severe neuroendocrine disease characterized by excessive production of the growth hormone (GH). The slow development of symptoms increases the diagnostic search up to 15 years. Permanent effect of the growth hormone on the human body can cause structural and functional disorders of organs. The main complications of acromegaly include cardiovascular, respiratory, and musculoskeletal system dysfunction, as well as impaired carbohydrate metabolism and an increased risk of developing neoplasms.Often, nonspecific symptoms of acromegaly can be masked by other pathologies or their complications, such as obesity. An increase in subcutaneous fat, increased blood pressure, joint pain, edema, and impaired carbohydrate and lipid metabolism are observed both in acromegaly and in obesity. An additional factor in the development of obesity as a complication of acromegaly is the development of sleep apnea, which triggers a series of pathological processes that ultimately lead to Pickwickian syndrome.We present a clinical case of a patient with acromegaly and obesity, discussing the effects of excess body weight on the course of the underlying disease, the presence of complications, and an individual approach to treatment.

AIM: To determine the value of urine osmolality when conducting a test with 3% hypertonic sodium chloride solution, which allows for the differential diagnosis of diabetes insipidus (DI) and primary polydipsia (PP).METHODS: An interventional cross-sectional study was conducted at the (Endocrinology Research Center. The study included 90 patients with polyuria-polydipsia syndrome from September 2021 to September 2023. All patients underwent sequential two tests with osmotic stimulation: 3% hypertonic saline infusion test and a water deprivation test. The final diagnosis was established based on the results of a fluid deprivation test, the patient’s anamnestic data (previous operations, diseases of the hypothalamic-pituitary region, the presence of mental illnesses), MRI data (the presence of a hyperintense signal from the posterior pituitary on T1-weighted images, a detected tumor or infiltrative formation of the hypothalamic-pituitary area, presence of Rathke’s pouch cyst).RESULTS: 48 patients with a final diagnosis of DI and 42 with a final diagnosis of PP were analysed. A cut-off point for urine osmolality during infusion test with 3% hypertonic saline was found: values less than or equal to 377 mOsm/kg support the diagnosis of DI, and values higher than 377 mOsm/kg support the diagnosis of PP. The sensitivity of the criterion is 89%, 95% CI (77%; 97%), specificity — 98% (87%; 100%), PPV — 98% (88%; 100%), NPV — 89% (76%; 96%), accuracy 93% (86%; 98%).CONCLUSION: The proposed criterion for differential diagnosis has comparable diagnostic accuracy in relation to the differential diagnosis of DI and PP, while the safety of the test may be higher.

Vitamin D deficiency and insufficiency are widespread globally with multiple factors playing a role in their development. Such as limited exposure to sunlight, poor nutrition, gastrointestinal diseases, and obesity, which affects approximately 39% of the world’s adult population. In addition to its canonical role in skeletal function, vitamin D modulates adipogenesis, insulin secretion, and action in diabetes. Vitamin D deficiency due to obesity is likely due to decreased bioavailability of vitamin D through synthesis in the skin and from dietary sources, which is associated with its deposition in body fat depots. While a direct effect on adipogenesis appears to be realized during critical periods of life (pre- and postnatal periods). Vitamin D directly regulates genes involved pathways of insulin secretion and action. The high worldwide prevalence of vitamin D deficiency may be associated with the high incidence of type 2 diabetes, and normalizing vitamin D levels in patients may be an effective strategy to slow the progression of type 2 diabetes and its complications.

Obesity is a complex multifactorial pathology associated with a complex of metabolic, cellular, cardiovascular factors leading to extremely negative health consequences, which determines the high social significance of this nosology. Telemedicine technologies are being widely implemented in practical healthcare, including can be used for many obese patients. Currently, the true prevalence of obesity is not reflected in the forms of statistical registration of diseases and, often, is not considered by doctors as the main cause of the development of cardiovascular diseases, carbohydrate metabolism disorders and diseases of the musculoskeletal system. The underestimation of the problem of obesity is also reflected in the structure of telemedicine consultations with a specialized endocrinological research center

Chronic liver disease is a significant public health problem worldwide, and its consequences lead to the development of various mineral disorders, which occur in 75% of patients. Osteoporosis (up to 30% of patients) has the greatest clinical significance among the mineral disorders that develop in chronic liver disease. Fractures occur, according to different data, in 7-35% of patients. There are number of mechanisms influencing the state of mineral metabolism in chronic liver diseases: from the disturbance of vitamin D metabolism to the synthesis of pro-inflammatory cytokines and the function of intestinal microbiota. To date, these processes remain insufficiently studied: for example, aspects concerning the functioning of parathyroid glands in chronic liver diseases are not completely clear; there is no clear idea about the predominant processes in bone tissue (anti- or proresorptive). This determines the imperfection of prophylactic and therapeutic approaches in mineral disorders due to chronic liver diseases and the need for further research in this direction. The first part of this review focuses on the epidemiology and pathophysiology of mineral metabolism disorders in these conditions; the second part of the review will focus on current therapeutic approaches

A corrigendum on "Androgen insensitivity syndrome: preventive gonadectomy, "pros" and "cons"" (Obesity and metabolism by Еvgenia A. Starostina, Nadezhda V. Frolkova, Seidbike M. Seidova, Elena G. Przhiyalkovskaya, Nadezhda M. Platonova (2024). Obesity and metabolism. 2024;21(1):85-91. doi: https://doi.org/10.14341/omet13024On page 87 the sentence “In addition, testosterone preparations are used to treat infertility in patients with a mild form of STF [3]” was removed. Added paragraph “Birnbaum W et al. conducted a multicenter, double-blind, randomized, crossover study in three university medical centers and three specialized hospitals in Germany. In this study, patients aged 18-54 years with karyotype 46,XY, genetically confirmed CAIS, removed gonads, were treated with either estradiol drugs at a dose of 1.5 mg/day for 6 months, followed by a transition to testosterone 50 mg /day for 6 months (sequence A), or testosterone preparations 50 mg/day for 6 months, followed by a transition to estradiol 1.5 mg/day for 6 months (sequence B).In the study, testosterone was well tolerated and as safe as estrogen. The authors suggested that testosterone may be an ­alternative replacement therapy for CAIS, particularly for patients with reduced sexual function."A new source has been added in the reference list section under No. 30: “Birnbaum W, Marshall L, Werner R, et al. Oestrogen versus androgen in hormone-replacement therapy for complete androgen insensitivity syndrome: a multicentre, randomized, double-dummy, double-blind crossover trial. Lancet Diabetes Endocrinol. 2018;6(10):771-780. doi:10.1016/S2213-8587(18)30197-9.”The authors regret the error. The original version of the article has been replaced.

A corrigendum on "A Rare Case of Co-occurrence of Multiple Endocrine Neoplasia Syndrome and Congenital Adrenal ­Hyperplasia" by Axenia S. Bondarenko, Elizaveta O. Mamedova, Zhanna E. Belaya, Galina A. Melnichenko (2024). Obesity and metabolism. 2024;21(1):79-84. DOI: 10.14341/omet13015.On the page 82, the following text was added: "The presented case was first described in the dissertation of Kareva M.A. The author draws the readers' attention to the fact that the presence of CAH in the patient could lead to a delayed diagnosis of the second monogenic disease — MEN-1: episodes of indomitable vomiting in this case were considered as a manifestation of salt-wasting crises, but it cannot be excluded that they could be associated with the development of severe hypercalcaemia in the patient [30]".A new source has been added in the reference list section under No. 30: «Kareva M.A. Vrozhdennaya disfunkciya kory nadpochechnikov u detej: epidemiologiya, geneticheskaya osnova, personalizirovannyj podhod k diagnostike i lecheniyu, monitoring somaticheskogo i reproduktivnogo zdorov’ya. [dissertation] Moscow; 2018. (In Russ)».