ESPE Abstracts

Background: Insulin/IGF1 signaling plays a critical role in central glucose bioavailability and lipid metabolism. An increase in glucose disposal can generate reducing agents through the pentose-phosphate pathway necessary for the synthesis of free fatty acids (FFA). Disturbances in lipid synthesis are related to the appearance of insulin resistance and diabetes. The insulin receptor substrate 2 (IRS2) deficient mice (IRS2−/−) is an excellent model to st...

Background: The GH/IGF1 axis has important roles in growth, metabolism, lipid profile and body composition. GH receptor disrupted mice (GHRKO mice) are resistant to the action of GH, thereby, GHRKO mice are dwarf, hypoinsulinemic, hypoglycemic and obese. Consumption of a high fat diet (HFD) induces inflammatory processes in a multitude of peripheral tissues, including hypothalamus.Objective and hypotheses: Our aim was to evaluate the effect of HFD intake...

Introduction: Non-classical congenital adrenal hyperplasia is the most common pathological cause of early pubarche in prepubertal patients. However, this may also be the first manifestation of central precocious puberty or an androgen producing suprarrenal or ovarian tumor.Objective: To present a clinical case initially misdiagnosed as Congenital Adrenal Hyperplasia that turned out to be an Ovarian Tumor of Leydig Cells.Clinical ca...

The coronavirus disease (COVID-19) pandemic brought with it a state of alarm as of March 14, 2020, which implied a restriction on the mobility of the general population and home confinement. One of the main concerns raised by isolation was the substantial reduction in energy expenditure due to children spending more time sitting or participating in activities that involve very low rates of energy expenditure, such as watching television, managing the different networks social ...

Background: RARβ cooperates with Nur77 to in-vitro regulate HSD3B2 transcription. NUR77 expression parallels HSD3B2 expression with a much lower level in androgen-producing adrenocortical tissues (childhood virilizing adrenocortical tumours (VAT), fetal zone (FeZ) and zona reticularis, ZR). RARβ is down-regulated in starved, hyperandrogenic H295R cells. However, the mechanisms regulating this expression pattern and the relevance of RARβ to huma...

Background: Neurofibromatosis type 1 (NF1) caused by loss of function mutation in the NF1 gene; leads to the hyperactivation of RAS and its downstream mediators and contributes to tumour formation. The main manifestations of NF1 are café au lait macule, axillary and/or inguinal freckling. Neurofibroma plexiform is specific for NF1 and identified on the face and trunk. Urogenital presentation is infrequent in the penis. Identification of this lesion is essential because it...

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...

Introduction: Kisspeptin stimulates the gonadotropin releasing hormone (GnRH) neurons in hypothalamus initiating puberty. However, it is not known whether GnRH inhibits kisspeptin secretion by negative feedback and whether there are any associations between circulating levels of kisspeptin and other hormones, like ghrelin, important for the onset of puberty.Methods: Thirteen girls with suspected central precocious pubert...

Introduction: Delayed puberty is defined as the absence of physical signs of puberty by the age of 14 years in boys and 13 years in girls. According to this definition, the prevalence of delayed puberty would be 2%, if the ages of pubertal onset were normally distributed in the population. However, the prevalence or incidence of delayed puberty has not been described before, as far as we know. Our aim was to study the incidence of delayed puberty in central Sweden.<p class...

Introduction: Ghrelin is a growth hormone-releasing acylated peptide stimulating the appetite, mainly produced in the stomach, and with an important role in pubertal development (1). Two ghrelin forms have been described, acylated (AG) and desacylated (DAG), but it is debated whether DAG is an active hormone or a degradation product of AG (2). Our aim was to evaluate the effects of adding the protease inhibitor 4-(2-aminoethyl) benzenesufonyl fluoride hydrochl...