ESPE Abstracts

Background: Obesity and a thicker layer of subcutaneous adipose tissue are more common in Turner syndrome (TS), however, it is assumed that growth hormone (GH) treatment has beneficial effect on their body composition (BC). Objective: To investigate the effect of GH therapy on BC and its relation with metabolic syndrome components in girls with TS during a 10 year-follow-up.Patients and Methods: 21 girls with TS were des...

Background: Turner’s syndrome (TS) is the most common genetic disorder in females affecting approximately 1 in 2500 live female births as a result of partial or complete X chromosomal monosomy. TS mostly affect skeletal, cardiovascular, endocrine and reproductive systems. Girls with TS present with short stature and dysmorphic features such as webbed neck and delayed puberty. Age at diagnosis of children with TS is extremely important to start growth hormone at younger ag...

Background: Preservation of C-peptide is important and has become regarded a relevant endpoint as already a quite small residual C-peptide seems to be related to both less acute and late diabetes complications.Objective: To assess the residual C-peptide secretion in pediatric patient with T1D.Method: Cross-sectional study of 157 patients with T1D. We analyzed: age at diagnosis, age at time of study (years), sex, diabetes duration (...

Background: Turner syndrome (TS), affects approximately 1/2500 live female births. The clinical features range from a severe phenotypic character to reduction of final height and premature ovarian failure.Objective and hypotheses: Processing of sensory information from visual, vestibular and somatokinesthetic systems is required to organize an adequate motor response aiming at gaze and posture stabilization according to the expected task and to the envir...

Background: Turner Syndrome (TS) is commonly complicated by otological problems, of which middle ear infections, conductive and sensorineural hearing losses are most frequent. Middle ear infection and hearing loss, isolated or in combination, have putative roles in balance disturbance and may be related to the increased fracture risk exhibited in TS in adulthood. Our aim was to both establish the prevalence of balance problems in TS during childhood and explor...

In the light of technologic advances in prenatal testing, more genetic information about the fetus will become available, some of which may have uncertain clinical significance. In the light of all new genetic diagnosing technologies, professional guidance of patients to reliable, tailored, and accurate information is essential. In this presentation I analyze and discuss the various aspects of parental attitudes and dilemmas, as well as professional opinions about the benefits...

Introduction: Variants in the N-terminal of the Indian-hedgehog gene (IHH) have been associated with Brachydactyly type-A1 (AD) and Acrocapitofemoral dysplasia (AR), only three of which have been functionally studied. However, heterozygous IHH variants, majority classified as variants of unknown significance (VUS) are being increasingly identified, not only in the N-terminal but also in the uncharacterized C-terminal, by NGS, in individuals with short...

Background: Turner syndrome (TS) is the most common chromosomal abnormality in females (prevalence 1/2500 births). It is related to the absence or abnormality of one of the two X chromosomes. It is characterized by a short stature, gonadal failure and a many diseases that reduce life expectancy of patients.Objective and hypotheses: Report Clinical, hormonal, Cytogenetics and evolutionary ST characteristics then correlate the karyotype and clinical expres...

Background: Turner syndrome (TS) is the most common chromosomal abnormality in females (prevalence 1/2500 births). It is related to the absence or abnormality of one of the two X chromosomes. It is characterized by a short stature, gonadal failure and a many diseases that reduce life expectancy of patients.Objective and hypotheses: Report clinical, hormonal, cytogenetics, and evolutionary TS characteristics then correlate the karyotype and clinical expre...

Introduction: We report the first known case of a child with mosaic Turner syndrome (TS) with ring X chromosome abnormality and Kabuki syndrome (KDM6A deletion) presenting with hypoglycaemia secondary to severe GH deficiency. Ring X Turner’s mosaic have the XIST locus, so the chromosome is inactivated, however the KDM6A gene deletion associated with Kabuki syndrome escapes X-inactivation as it is falls below the threshold required to manifest inactivation. This r...