ESPE Abstracts

Introduction: Precocious development of secondary sexual characteristics in both sexes indicates early reactivation of the hypothalamic-pituitary-gonadal axis, known as central precocious puberty (CPP). CPP should be considered in males under nine years old when testicular volume exceeds 4 milliliters. This condition is rare (1 male per 15 girls), and secondary causes must be promptly excluded due to the higher likelihood of intracranial pathology. Recent stud...

Background: Idiopathic short status (ISS) is defined as a height more than two standard deviations (SD) below the mean for age and sex and population group without evidence of systemic, endocrine, nutritional, or chromosomal abnormalities. Children with ISS have normal birth weight and GH secretion.Aims: Aim of the study was to analyze the final adult height in a group of patients with idiopathic short stature.<p cla...

Background: In premature neonates hypothyroidism or thyroid sick syndrome is frequently diagnosed, which is a result of the immaturity of the gland itself and the hypothalamic–pituitary–thyroid axis. The necessity of rapid adaptation to extrauterine life, generation of high thermal energy, and accelerated development of the central nervous system is the cause of the increased demand for thyroid hormone.Objective and hypotheses: The aim of our s...

Introduction: Characteristic features in patients with a duplication at 5q35.2q35.3 encompassing NSD1 are short stature, microcephaly, mild developmental delay, behavioural problems, digital anomalies and defects of internal organs. The above-mentioned features are reversed to Sotos syndrome phenotype, which is associated with a microdeletion in the same chromosomal region. In the literature, 41 patients were reported so far.Case...

Introduction: Advanced glycation end-products (AGEs) are heterogeneous groups of irreversible adducts resulting from non-enzymatic glycation and glyoxidation of proteins, lipids, and nucleic acid. AGEs and its cell receptor RAGE have been involved in the pathophysiology of cardiovascular and metabolic diseases. Interaction of AGEs with RAGE results in an increased generation of oxygen radicals and increased expressions of pro-inflammatory cytokines. Circulating soluble AGE rec...

Background: Subclinical hypothyroidism is a common finding in Down syndrome (DS) patients and transition towards overt hypothyroidism can occur, but there are no predictor factors to identify patients that will need replacement therapy later in life.Objective and hypotheses: This is a retrospective cohort study on a population of DS paediatric patients. This study was designed to evaluate possible early predictive features of hypothyroidism development.<...

Background: The easypodTM auto-injector is designed to make daily administration of recombinant human growth hormone (r-hGH) comfortable and easier to patients. EasypodTM device delivers pre-set doses of r-hGH (Saizen®) and stores a digital record of adherence to therapy that can be shared with healthcare providers for evaluation.Objective: To assess adherence to r-hGH therapy delivered via the easypodTM device in ea...

Introduction: Growth is a complex process influenced by several genetic factors both pre and postnatal, in which 80% of the height variation is explained by genetic factors. Nevertheless, the standard medical evaluation of short stature (SS) relies upon physical examination and laboratory parameters and identifies a pathological cause of SS in 1–40% of individuals. Rearrangements affecting chromosome 15 are rare and affected patients show a variety of nonspecific features...

Background: Congenital GH deficiency (GHD) can be isolated (IGHD) or combined with other pituitary hormone deficiencies (CPHD). The identification of mutations has clinical implications for the management of patients and genetic counseling1.Objective: To prospectively conduct a molecular-genetic analysis in genes associated with IGHD or CPHD.Method: Forty patients with IGHD (n=8) or CPHD (n=32) were stu...

Background: The calcium-sensing receptor (CaSR) regulates calcium metabolism by modulating PTH secretion, as well as by direct effect on osteoblasts and osteoclasts, balancing bone formation and resorption. Loss-of-function heterozygous mutations on CASR gene can lead to Familial Hypocalciuric Hypercalcemia (FHH; OMIM #145980), a benign autosomal dominant condition of undefined incidence. Dysplasia Epiphysealis Hemimelica (DEH; OMIM #127800) is a rare...