ESPE Abstracts

Background: Shox gene, located on the short arm (p) of the X chromosome, is expressed in the growth plate cartilage in pre and post natal life. Whereas the dose dependent association between the number of active copies of the SHOX gene and height is well established, studies addressing a more subtle variability between the quality of fetal growth, the severity of post natal height deficit and karyotype subgroups in Turner syndrome (TS) are still limited....

Background: In Turner syndrome (TS), Shox haploinsufficiency accounts largely, but not entirely, for the short stature of patients, which has been estimated at a mean loss of 20 cm with respect to target height. GH treatment has been shown to improve adult height (AH), although individual outcomes vary markedly. Little is known about the relationship between the dosage effects of the X-linked gene and responsiveness to GH.Objective: To determine whether ...

Background: An increase in the incidence of congenital hypothyroidism (CH) with a normally located gland has been reported worldwide. Affected individuals display transient or permanent CH during follow-up in childhood. We aimed to determine the prevalence of transient CH and to assess the possibility of distinguishing between transient and permanent CH in early infancy.Methods: This observational cohort study included all patients identified by systemat...

Background: The broad spectrum of associated diseases underlying the diverse phenotypes of patients with Turner syndrome (TS) has been extensively described. However, the underlying pathophysiological mechanisms remain unknown. Few studies have analyzed congenital and acquired diseases as a function of karyotype, and conflicting results have been obtained, calling into question the role of haploinsufficiency for genes located on the X chromosome.Objectiv...

Background: Turner Syndrome (TS) with a 45,X phenotype is generally more severe than TS with mosaicism, but the potential role of the degree of mosaicism in modulating TS phenotype has never been investigated. We assessed the impact of various degrees of 45,X/ 46,XX mosaicism on phenotypic features in a cohort of TS patients.Method: We analysed a cohort of TS with 45,X/ 46,XX mosaicism (percentage mosaicism from peripheral blood lymphocytes, known in <em...

Background: Despite current treatment, girls and women with severe forms of 21OHD are exposed lifelong to a chronic excess of androgens and the secondary effects of suppressive corticoids, which make gene therapy (GT) an option to be explored.Objective: To evaluate the effect of human CYP21 gene transfer mediated by adeno-associated virus (AAV) in a Cyp21−/− mouse model.Methods: 17 adult <em...

Objective and hypotheses: To describe the morphological characteristics of patients with Prader-Willi Syndrome (SPW) who have been followed in a Pediatric Endocrinology Outpatient Clinic.Method: We performed a retrospective study on 51 patients evaluating the age of diagnosis, genetic mutation, use of GH (rhGH), age of beginning of follow-up, and z-score of weight, height and BMI. Data on their first and latest visit to our clinic were compared....

Background: A portion of 160 kb on Xp21.2 is defined as dosage sensitive sex reversal, including NR0B1, which is considered the most likely candidate gene involved in XY gonadal dysgenesis if overexpressed. The excess of NR0B1 gene product seems to disturb testicular development by down regulating NR5A1, WT1, and SOX9. Xp duplication causes insufficient SRY expression leading to testis development failure. However, NR0B1 si...

Background: The approach to clinical management of Graves’ disease (GD) is debatable.Objective: This study aimed to identify predictors of remission in pediatric GD.Methods: A longitudinal study of 36 children and adolescents with Graves’ disease followed from 1997 to 2017 at a single pediatric tertiary hospital was performed. Clinical and biochemical parameters, including comorbidities, treatment with anti-thyroid drugs ...

Background: Newborn screening for CAH is effective in identifying the severe cases; however, the high rate of false-positive (FPR) results remains an important issue. Therefore, positive neonatal results must be confirmed by serum 17OHP levels, which present a great overlap among all forms.Objective and hypotheses: To evaluate the utility of molecular analysis to improve CAH diagnosis in NBS program.Method: Between 1999 and 2014, 8...