ESPE Abstracts

Background: Patients with Turner’s syndrome (TS) develop osteoporosis, resulting from chromosomal deficiency and estrogen deficiency by gonadal dysgenesis.Objective and hypotheses: The aim of this study was to assess bone mineral density (BMD) and parameters of bone remodeling during somatropin therapy in prepubertal girls with TS.Population and/or methods: We examined 22 girls with TS of the age of 11–15 years (the mean ...

Background: We analyzed characteristics of patients with stunting admitted at Endocrinology Department of Muratsan University Medical Settings, the only specialized center in Armenia. No similar study was carried out in this region.Objective and hypotheses: Patients (n=102) were evaluated prospectively.Method: The following parameters were used for statistical analysis- demographic information, diagnosis, anthropometric da...

Background: Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder arising from lack of expression of paternally inherited imprinted genes on chromosome 15q11–q13. Hyperphagia represents one of the most serious symptoms of the PWS, leading to develop premature mortality.Objective and hypotheses: To compare orexigenic (ghrelin) and anorexigenic factor (brain derived neurotrophic factor (BDNF)) concentration in non-GH-treated obese pati...

Background: GNRHR gene mutations are responsible for development to normosmic idiopathic hypogonadotropic hypogonadism (iHH) and known to be the most frequent cause of this condition. Nevertherless, the reported frequency of GNRHR mutations in iHH patients estimated to be as low as 3-6%.Objective: To evaluate the frequency of GNRHR gene defects in a heterogeneous group of Russian patients with iHH and described the p...

Introduction: A natiowide screening for Congenital Hypothyroidism (CH) was introduced 1996 in Russian Federation and Saratov Region. Revelation of the incidence of CH is of great value at the background of moderate iodine deficiency existing in Saratov and Saratov Region. Neonatal screening is an effective method for early detection of congenital hypothyroidism, a disorder that requires the prompt initiation of the treatment, in order to prevent the subsequent...

Viral infections may increase the risk of developing type 1 diabetes (T1D), and recent reports suggest that Coronavirus Disease 2019 (COVID-19) might have increased the incidence of pediatric T1D (M. Rahmati et al., 2022). In general, the course of viral infection in children is mild, the question of the long-term effects of COVID-19 on a child and adolescent, in particular, on pancreatic beta cells, remains unclear.Purpose: To ...

Background: Being born small for gestational age (SGA) is an associated condition to nonspecific 46,XY DSD (without molecular diagnosis and with no specific disorders of undermasculinization). However, the underlying mechanism of the relationship between the presence of genital abnormalities and intrauterine growth restriction is unknown. The GH-IGF system is crucial for sex differentiation in mice and in humans, members of this system were detected in embryon...

Disorders of sex development (DSD) are those congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. The aim of this study was to characterize the histology of 46,XX DSD prepubertal gonads. We studied 25 gonads of fourteen 46,XX DSD patients. The age of biopsy/gonadectomy was 1.17 (0.08–4.17) years (median and range). Molecular studies confirmed the absence of SRY by PCR and/or MLPA in blood samples of all patients and i...

Background: In Androgen insensitivity syndrome (AIS) is a hereditary disease in which AR mutations in 46,XY patients present with partial (PAIS) or complete (CAIS) defects in virilisation.Objective and hypotheses: The aim was to analyze the effect of lack of androgen action in germ cell (GC) health and survival along postnatal development, previous to Sertoli cell (SC) pubertal maturation.Method: The histological features and quant...

Background: Carriers of germline DICER1 mutations are predisposed to a rare cancer syndrome, the DICER1 syndrome, associated with tumors such as pleuropulmonary blastoma (PPB), ovarian Sertoli-Leydig cell tumors (SLCT), multinodular goiter (MNG), cystic nephroma (CN), embryonal rhabdomyosarcoma (ERMS) or primitive neuroectodermic tumor. DICER1 is involved in the generation of microRNAs (miRNAs), short, double-stranded, non-coding RNAs that modulate gene expression at ...