ESPE Abstracts

Background: We are not aware of other longitudinal cohort studies of boys with annual assessments of pubertal development and long term follow-up to adulthood to evaluate semen quality.Objective: To describe semen quality and investigate its predictors in a longitudinal cohort study of Russian boys followed from prepuberty until adulthood.Design and methods: From 2003 to 2005, 516 prepubertal 8–9-year-old boys were enrolled (8...

Background: We are not aware of other longitudinal cohort studies of boys with prepubertal assessment of exposure to endocrine-disrupting chemicals (EDCs) and annual long term follow-up of growth and puberty to evaluate semen quality.Objective: To describe semen quality and explore associations of prepubertal serum concentrations of organochlorine compounds and pubertal measures with semen parameters in an ongoing longitudinal cohort study of Russian boy...

Background: Genetic defects in the insulin receptor (INSR) are rare. Precise prevalence is unknown and significant clinical heterogeneity exists. Over 120 allelic variants have been described to date, spread throughout the receptor, and few geographical founder effects have been described. In this case series we identify a novel missense mutation in the tyrosine kinase domain of the INSR in three independently ascertained Irish families.Objective and Hyp...

Background: Septo-optic dysplasia (SOD) is a highly heterogeneous condition with a variable phenotype, defined as two or more features of the classical triad: i) optic nerve hypoplasia, ii) midline brain defects, and iii) pituitary hormone abnormalities.Objective and hypotheses: To describe the clinical, endocrine, and neuroimaging features in eight children with SOD.Method: Eight (six males) consecutive patients, diagnosed with SO...

TN was seen in India aged 7 years by her GP, with concerns about tall stature and increase in belly fat. She had a family history of diabetes, high cholesterol and early deaths. Her mother has diabetes, a round face and prominent limb musculature with very little subcutaneous fat. TN was investigated by a paediatric endocrinologist in India. Tests showed high triglycerides and insulin levels at the upper level of normal for her age. She was put on a strict diet and exercise pr...

Introduction: The identification of obese patients with increased susceptibility and risk for glucose intolerance and type 2 diabetes requires an oral glucose tolerance test (OGTT). Reference values for Body mass index (BMI) and Tri-Ponderal mass index (TMI) according to age and sex of healthy children in Spain without malnutrition or obesity have recently been published (*). TMI values remain very uniform in both boys and girls from the age of 8 to 18 years, ...

Background: Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue. Cardinal features affect cardiovascular system, eyes and skeleton. It is caused by mutations of FBN1 gene, which encodes the extracellular matrix protein fibrillin 1. The improper activation of TGFβ, due to defective fibrillin-1, is the pathophysiological mechanism. The altered modulation leads to overgrowth of long bones (disproportionate stature) and altered bone morphology.<p ...

Introduction: Prader-Willi Syndrome (PWS) is a complex genetic condition associated with feeding difficulties, hypotonia, developmental delay in infancy; hyperphagia leading to extreme obesity, growth failure and behavioral problems in childhood. Coeliac disease (CD), is an autoimmune disease characterized by gluten intolerance and a variety of symptoms most commonly diarrhea or constipation and failure to thrive. In PWS the challenge is to optimize growth while avoiding obesi...

Background: Anti-Müllerian hormone (AMH) inhibits the in utero growth of the Müllerian structures in female fetuses. In neonates with suspected disorders of sexual development (DSDs), the presence of testicular tissues and functioning Sertoli cells can be investigated by testing for serum AMH concentration.Objective: To evaluate the performance of two new AMH assays in a hospital laboratory.Method: The technical performan...

Objectives: Individuals with achondroplasia (ACH) experience medical, emotional and functional detriments during their lifetime. A comprehensive research initiative was conducted to include combined concept elicitation (CE) and cognitive debriefing (CD) interviews and mapping of concepts to identify the most relevant available patient-reported outcome (PRO) measures for inclusion in studies of ACH.Methods: Combined CE/CD...