Currently, no studies cover the mechanisms of interaction between leptin and PPARγ in the pathways of this syndrome. The available studies indicating the individual contribution and association of leptin and PPARγ with PCOS are conflicting and have many limitations. Therefore, more studies of direct and indirect interaction of leptin and PPARγ, as well as their role in PCOS pathways, are needed.There is no universal diagnostic and treatment strategy of subclinical hypothyroidism (SHT) in pregnant women and those who are planning pregnancy due to differences in population-specific and trimester-specific thyroid-stimulating hormone (TSH) reference values, influence of thyroid autoimmunity markers on pregnancy outcomes, adherence to fixed universal cutoff concentrations TSH in Russia and multidisciplinary team care with different treatment opinions involving. An absence of universal approach to SHT leads to excess treatment, financial and psychological burden on pregnant women.Up to American Thyroid Association (ATA) Guidelines 2017 and project of Clinical Guidelines of Russian Association of Endocrinologists 2019 a treatment strategy of SHT should be left up to the endocrinologist to choose. In our paper we systematize global scientific and clinical experience of planning and management pregnancies with SHT to help physicians to choose treatment option based on principals of evidence-based medicine.Disorders of sex development (DSDs) are congenital conditions in which phenotype does not correspond to chromosomal and gonadal sex. To date, the etiology of DSD is established only in half of the cases. With the development of modern methods of molecular genetic diagnostics in the last decade, a number of new regulators of gonad differentiation have been discovered, whose expression disorders can lead to DSD. Among these factors, Mitogen-activated triple protein kinase 1 (MAP3K1). A distinctive feature of studying the detected variants in the MAP3K1 gene that they lead to activation of MAP3K1. It does not allow using generally accepted pathogenicity assessment algorithms. However, the frequency of detection of changes in MAP3K1 is up to 18% of all cases of DSD, according to literature, which emphasizes the importance of studying each identified case, establishing the relationship of the disease with the identified genetic disorders.  https://www.selleckchem.com/screening-libraries.html  In this article, we present a clinical, hormonal, and molecular genetic description of 7 cases of DSD associated with variants in MAP3K1, an analysis of the significance of our own data, and a short analysis of the current scientific literature on this issue.
  Diagnostics of growth hormone deficiency (GHD) and secondary adrenal insufficiency (SAI) is based on estimation of peak GH and cortisol concentrations in provocation tests. Russian consensus on diagnostics and treatment of hypopituitarism in children and adolescences recommends to measure GH and cortisol concentrations in every time-point of insulin test (IT). Glucagon test (GT) is discussed in literature as alternative to IT.
 
  To estimate the possibility to use provocation GT for diagnostics of SAI and GHD in children and adolescents.
 
  We investigated blood and urine cortisol levels, IT, and GT in 20 patients 6.5-17.8 years (Me 13.0 (10.4; 15.3)) after surgery and/or radiology and/or chemical therapy of head and neck tumors; remission for 0.4-7.5 years (Ме 2.1 (1.5; 5.2)).
 
  With cut-off point 550 nmol/L sensitivity and specifity of IT was 100% and 60%, GT - 100% and 53% respectively. Minimal cortisol cut-off level for GT with sensitivity 100% was 500 nmol/L, maximal with specifity 100% - 400 nmol/L.Earlles allows to exclude or to suspect SAI in half of patients before tests. GH peaks in GT can exceed similarly data in IT that needs future investigation.Cushing's disease (CD) is a multisystem disorder of a cortisol excess caused by ACTH -secreting pituitary tumor (corticotropinoma). CD in children is due to somatic or germline mutations with the late onset causing multiple endocrine tumors. If not treated, hypercortisolism leads to severe decrease in quality of life and life-threating conditions. The first-line treatment for CD is pituitary surgery, which might be followed by complications and relapse with necessity of additional surgery or initiations of second-line treatment. Recent studies of molecular basis of corticotropinoma development made it possible to employ medical therapy in CD. Understanding of corticotropinoma etiology and pathogenesis is an important part of education for pediatric endocrinologists since we need to keep in mind possibility of multisystem disorder in case of CD in children and because medical therapy might gain more important role for CD treatment in future.The most actual genetic aspects of corticotroph adenomas growth and the medical treatment opportunities are present in this review.The article reviews scientific papers devoted to the problem of reproductive health in men with Klinefelter syndrome (KS). Pathogenesis from a very early age (in utero), the possibility of ensuring biological paternity upon reaching sexual maturity and the risk of chromosomal abnormalities in offspring are discussed. Despite the fact that KS is one of the most common causes of male infertility associated with chromosomal abnormalities, due to the variability of clinical manifestations the proportion of patients identified before puberty did not exceed 10% before the widespread introduction of non-invasive prenatal testing. According to the research results presented in the article, the reproductive potential of males with KS is often already reduced in early childhood. These circumstances should be considered when choosing further patient management tactics.There are few reports on the onset of spontaneous pregnancy in the case of KS, so ensuring biological paternity in this group of patients is often possible only using surgical methods of sperm extraction and assisted reproductive technologies. This article discusses methods like testicular sperm extraction (TESE) and microdissection testicular sperm extraction (mTESE) in terms of their effectiveness and safety for the patient, and the factors influencing the outcome of the operation. The optimal period of these manipulations seems to be the patient's age from 18 to 30 years, although the feasibility of adolescent boys undergoing the aforementioned procedures is highly controversial.The research papers presented in the article suggest that the risk of transmitting chromosomal abnormalities to offspring is rather low, which does not exclude the need for medical and genetic counseling to explain all possible risks to the patient. Preimplantation or intrauterine diagnostics are also deemed necessary.