ESPE Abstracts

Context: Physiological growth hormone is secreted during the slow-wave sleep. Traditionally, growth hormone (GH) therapy is given in daily GH injections before sleep. This schedule better imitates the physiological diurnal variation of GH secretion and action. Late-night daily injections have been claimed to be associated with sleep disturbances and insomnia, yet there is no hard evidence supporting this contention. Morning and evening GH injections produce co...

Background: Pediatric acute lymphoblastic leukemia survivors (pALL-S) carry a risk for developing metabolic abnormalities, including obesity, abnormal glucose metabolism (AGM) and dyslipidemia. Previous studies showed conflicting data regarding the pathophysiology of AGM in those survivors. Additionally, there has never been a study comparing glucose metabolism between pALL-S and simple obese children (Ob-C). This study aimed to assess glucose metabolism in pA...

Background: Postnatal linear growth is characterized by a steady decline of growth velocity in healthy individuals, with the exception of sex-steroid induced pubertal growth. Pharmacologic interventions in growth disorders are limited to systemic application of growth factors such as growth hormone, and CNP analogues in conditions with FGFR3 overactivation. Tyrosine kinase receptor inhibitors (TKI) represent a heterogenous group of drugs, mostly used for oncol...

Introduction: Growth without growth hormone (GWGH) is a rare phenomenon described in patients with hypothalamic structural pathology who present a normal growth rate in spite of growth hormone (GH) deficiency and low concentrations of insulin-like growth factor-1 (IGF-1). Possible aetiologies involve hyperinsulinaemia, hyperprolactinaemia or hyperleptinaemia; however, the exact mechanism is still unknown.Objective: We ai...

Background: Inter-individual differences in the metabolism of cortisol have been postulated to emerge during puberty, and might be explained by a complex interplay of genetic and environmental factors. The aim of the current study was to estimate the relative contributions of genetic, shared environmental, and unshared environmental factors on cortisol metabolism in a longitudinal twin cohort assessed at pre-pubertal, mid-pubertal and post-pubertal ages....

Introduction: Turner's syndrome (TS) is associated with several manifestations the most frequent being short stature and hypogonadism. Some authors (Nadeem, 2012; Bakalov, 2008) reported that individuals with TS have increased risk of fractures, but the etiology and mechanism of bone fragility have not been yet fully elucidated and may be exacerbated by hormonal factors (Cintron, 2017; Soucek, 2015). Bone densitometry (BD) through the emission of double en...

Background: Turner syndrome (TS) is caused by a total or partial loss of one X chromosome. Typical features include short stature and primary amenorrhoea. In addition, decreasing trabecular bone mineral density (BMD) and increasing cortical BMD during puberty has been reported at the radius. As chromosomal aberration remains a probable cause of bone changes in TS, we aimed to elucidate whether the karyotype differs among the tissues originating from the three ...

Background: Testosterone enanthate (TE) therapy was established for children and adolescents with male hypogonadotropic hypogonadism (c/a MHH). However, the effect of TE therapy on adult height (AH), genital maturation, and bone mineral density (BMD) in c/a MHH has not been described well.Objective: To assess the effect of TE therapy in c/a MHH on the achievement of genetic height potential, pubertal development, and bon...

Background: Rett (RTT) syndrome is a neurodevelopmental disorder related to mutations in the MECP2 gene that affects girls almost exclusively. In Rett syndrome patients have a high incidence of fractures that can occur at a young age.Objective and hypotheses: One of the objectives of this study was to identify clinical, radiographic and biological parameters associated to fracture incidence.Method: 89 RTT patients bearing a MEC...

Introduction: Androgen Insensitivity Syndrome (AIS) is the most common cause of Differences of Sexual Development (DSD) in 46, XY individuals. It is an X-linked genetic disease caused by allelic variants in the Androgen Receptor Gene (Xq11-12). Methods: Patients with clinical suspicion of AIS performed hormonal serum measurements (LH, FSH, estradiol, testosterone) and molecular sequencing of the AR gene, including exons and the 5’UTR region. Psychosexual variab...