ESPE Abstracts

Background: Patients with Klinefelter syndrome (SK) have a 47, XXY karyotype and tall stature as a result of overexpression of the SHOX gene. The case of a patient with peculiar phenotype, microcephaly, proportional short stature and 47, XXY karyotype with a deletion in band p11.3 of one X chromosome is presented.Clinical description: A 2-year, 4 month-old boy was referred for study of growth retardation. The product of a first gestation of 39 weeks of h...

Background: Preterm newborns due to their immaturity, a higher incidence of mortality and increased susceptibility to iodine, are at risk of decreased thyroid function. Low levels of thyroid hormones during a critical period for the development of the central nervous system may negatively affect their psychomotor development. Screening for congenital hypothyroidism with capillary TSH is invalid for preterm babies and would require an specific thyroid function control.<p cl...

Background: Gene SHOX haploinsufficiency due to deletions or mutations in heterozygosis causes a wide spectrum of phenotypes ranging from very severe disharmonic short stature (S. Léri-Weil, S. Turner) to very mild forms with the appearance of idiopathic short stature (IST) of difficult clinical recognition. Auxological study directed at evaluating body disproportions such as the sitting height/height (SH/H) ratio in patients with IST has been postulated as usefu...

Background: Hypochondroplasia is an osteochondrodysplasia inherited in an autosomal dominant pattern that results in a disproportionately short stature, characteristic facial features and skeletal alterations such as lordosis and genu valgum. Haploinsufficiency of the fibroblast growth factor receptor 3 gene (FGFR3) is responsible for 50–70% of the cases, but a negative result doesn’t rule it out.Case presentation: We report a...

Introduction: Continuous-glucose monitoring (CGM) is becoming a useful tool to evaluate glucose profiles in real-life conditions and to detect glucose abnormalities undetected by OGTT in CF patients.Objectives: • Evaluation of OGTT and CGM results longitudinally • Evaluation of BMI z-score and %FEV1 changes in relation to OGTT and CGM results. • Analysis of 6 proposed criteria to classify glucose abnormali...

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, ...

Introduction: Triple CFTR modulator therapy has been shown to improve lung function and quality of life in patients with at least one F508del mutation in the CFTR gen. However, effects on glucose metabolism are not yet well defined. This paper aims to describe the effects of this treatment on glucose metabolism in CF patients.Methodology: Ambispective study.Inclusion criteria: pati...

Objectives: Survivors of childhood acute lymphoblastic leukemia (cALL) present elevated fracture rates compared to the general population. A polygenic risk score for estimated bone mineral density (BMD), named gSOS, validated to predict the risk of adult osteoporotic fracture, has been previously associated with significant fracture risk in childhood. We hypothesized that gSOS could be associated with long-term, bone health-related mobidities in survivors of c...

Background and hypotheses: Recent results showing elevated tetrahydrocortisol/tetrahydrocorticosterone ratio (THFs/THE) in morning urines of diabetic children compared to controls suggest an increased nocturnal activity of 11 β-hydroxysteroid dehydrogenase type 1 (11β-HSD1). We made the hypothesis that a reduced inhibition of hepatic 11β-HSD1 activity by exogenous insulin, due to its subcutaneous (SC) administration and absence of first hepatic passage, could ex...

Background: Hematocolpos is a rare condition in young girls that can be caused by imperforated hymen or vaginal agenesis. It is usually diagnosed at early puberty with cyclic abdominal pain and amenorrhoea. Menarche is usually observed two years after the start of puberty; sometimes pre-menarcheal bleeding can occur, ranging from isolated premature menarche to spotting in course of puberty. In case of imperforated hymen or vaginal anomaly, a pre-menarcheal uterine bleeding can...