ESPE Abstracts

CHOPS syndrome is a rare monogenic disorder caused by heterozygous gain-of-function variants in AFF4. The 13 patients reported to date share a highly recognizable phenotype: Coarse face, Cognitive impairment, Heart defects, Obesity, Pulmonary involvement, Short stature and Skeletal dysplasia. AFF4 encodes a scaffold protein involved in transcriptional elongation and critical for gene expression regulation during embryogenesis. Notably, it appears to regulate adipogenic differe...

Objectives: To describe the auditory phenotype and dynamics of hearing thresholds in patients with Turner Syndrome (TS).Patients and Methods: Cross-section study evaluating the hearing thresholds in 246 TS patients (age range 4-44 yrs). Patients were divided into three age groups: Group 1 (79 TS, age range 4.0-12.9 yrs); Group 2 (109 TS, age range 13.0-25.9 yrs,) and Group 3 (66 TS, age range 26.0-44.9 yrs,). Pure tone a...

Objectives: To investigate prognostic markers (age, initial hearing level, karyotype, chronic hormonal therapies, and presence/absence of a mid-frequency dip influence) for hearing loss (HL) in Turner syndrome (TS).Design: Longitudinal cross-sectional and retrospective study.Study Population: 61 TS females (age range 4 - 45 yrs), diagnosed by cytogenetic analysis (49,2% monosom...

Objective: Low birth weight and prematurity are linked to various behavioural outcomes. In addition, preterm (PT) infants show altered maturation of pituitary–gonadal axis, as demonstrated by its pronounced transient activation during the first postnatal months. Given that gonadal steroid hormones shape the basic processes of neural and behavioural sexual differentiation these elevated sex steroids in premature infants might affect the developing brain and alter subsequen...

Objective and hypotheses: We analysed the prevalence of transient hypothyroidism in a cohort of children affected by CH with eutopic thyroid after Levothyroxine discontinuation.Method: 77 newborns (36 females, 41 males) affected by CH with eutopic thyroid from 1999 to 2011 were enrolled. The confirmation diagnosis of CH after screening was made within the first 15 days of life by assessing TSH value (mean 74.4±82.2 μU/ml n.v 0.5–4.2) and f...

Vanishing testis syndrome leads to hypergonadotropic hypogonadism. We report the case of a 28-years-old patient, who was diagnosed with bilateral cryptorchidism and phymosis at birth. At one, three and seven years-of-age orchidopexy was unsuccessfull to find testicular tissue. Meanwhile one cure of human chorionic gonadotropin (hCG) therapy was applied, without success. Endocrine investigation was continued just in 2011, at 24 years-of-age, when infantile external male genital...

Background: Obesity during childhood has been demonstrated to exert profound and lasting effects on bone strength and fracture risk. Furthermore, obesity is characterized by chronic inflammation and oxidative stress, with an increase in the mediators of innate immunity. It has been found that skeletal homeostasis is influenced by immune cells. LIGHT (lymphotoxin-like inducible protein that competes with glycoprotein D for herpesvirus entry on T cells) is emerging among cytokin...

Background: Type 1 diabetes (T1DM) is associated with low bone mineral density (BMD) and bone alterations, probably due to lack of insulin and chronic hyperglycemia. Sclerostin and Dickkopfs-1 (DKK-1) are Wnt signaling inhibitors involved in bone remodelling.Objective and hypotheses: To assess serum levels of DKK-1 and sclerostin in T1DM children and adolescents on continuous subcutaneous insulin infusion (CSII) or multiple daily therapy (MDI). We hypoth...

Background: Children born small for gestational age (SGA) are at increased risk of coronary heart disease and type 2 diabetes in adulthood, due to reprogramming of endocrine and metabolic functions. Dysregulation of specific miRNAs in response to genetic and environmental factors contribute to aberrant gene expression patterns underlying metabolic dysfunction.Objective and hypotheses: We aimed to identify miRNAs associated with increased risk of obesity ...

Background: Low bone mineral density (BMD) is found in up to 50% of adolescents and adults with Prader-Willi syndrome (PWS). High fracture risk has been described in adult PWS patients. This bone fragility could be due to inadequate gonadal hormones levels during pubertal development, and to relative growth hormone insufficiency during childhood and adolescence. However, the mechanism/s of low BMD in PWS have not been clarified.Objective and hypotheses: ...