ESPE Abstracts

Background: SHOX-D is rarely diagnosed in early infancy as cause of short stature.Objective and hypotheses: Describe clinical characteristics of two girls with an early diagnosis of Leri-Weill dyschondrosteosis, admitted to our hospital because of severe short stature.Method: Mutation screening of SHOX and its regulatory regions was performed by MLPA. Family analysis was undertaken.Results: The first 1.3 year...

Obesity in childhood is associated to several cardiovascular risk factors summarized in the definition of metabolic syndrome such as hypertension, dyslipidemia and impaired glucose tolerance. Besides others, the pathogenetic background is insulin resistance, which deteriorates in mid puberty and normalizes at end of puberty. Accordingly, blood pressure, lipids, fasting glucose and 2 h glucose in oGTT increased from prepubertal stage to pubertal stage and decreased from puberta...

Background: There is a need for a convenient and affordable alternative to daily s.c. injections for a growing incidence and prevalence of childhood- and adult-onset human GH (hGH) deficiency.Objective and Hypotheses: We sought to develop a convenient, non-invasive and affordable transdermal patch formulation capable of achieving passive delivery of large molecule drugs such as hGH and insulin for multiple days.Method: Prescription...

Background: IGF1R gene mutations have been associated with varying degrees of intrauterine and postnatal growth retardation, and microcephaly. We have previously reported three novel variants in the IGF1R gene: de novo p.Arg1256Ser, de novo p.Asn359Tyr and p.Tyr865Cys (ENDO 2013, OR20-2).Aim: To characterize the functional effects of the novel IGF1R gene allelic variants.Methods: In ...

Background: Vitamin D3 (25OHD) insufficiency is becoming a public health issue. Adequate 25OHD status during pregnancy may influence the health status of the offspring.Objective and hypotheses: To evaluate the levels of 25OHD during pregnancy (at 12 weeks) and at 4 years old, assessing seasonality, time of sun exposure, and intake.Method: Data were obtained from 485 pregnant mothers recruited in Asturias between 2004 and 2007 and t...

Background: For a few years now tubeless disposable patch pumps are available for insulin therapy.Objective and hypotheses: Alarmed by initially non explainable beginning metabolic decompensation of two children with type 1 diabetes during their hospital stay for the initial therapy adjustment with patch pumps and alarmed by patients’ reports of frequent premature pump changes and alarms, we decided to scrutinize the patch pumps under laboratory con...

Background: Usually a diet plan includes meals with suitable glycaemic index together with sophisticated insulin delivery for balanced sacharides-insulin intake. Nevertheless, the need of controlled sugar release is urged in specific day-to-day life situations, especially for young children with diabetes. Nocturnal hypoglycaemia, parental fear of insufficient snack intake in nursery, sports with prolonged race periods and others are amongst these life situations.<p class="...

Background: At 14 years of age for boys and 13 years for girls, delayed puberty with low gonadotropic hormones can either be a chronopathologic feature (constitutional delay of puberty – CDP) or the subclinical unmasking of a future isolated hypogonadotropic hypogonadism (IHH). The two conditions are difficult to differentiate at these specific ages.Objective and hypotheses: We aimed to identify clinical and paraclinical features which correlate wit...

Background: Secondary pseudohypoaldosteronism presents with hyponatremia and hyperkalemia due to a transient aldosterone resistance.Objective and hypotheses: We recommend a check of urea and electrolytes in all infants with urinary tract infection, dehydration and failure to thrive.Method: A 5 month old presented with a day’s history of poor feeding and two episodes of vomiting. He was afebrile with normal observations. His ur...

Background: Androgen insensitivity syndrome (AIS) is an X-linked hereditary disease with AR gene loss-of-function mutations in 46,XY patients. They undergoes poor development of secondary sex characteristics, except for breast development at puberty. AIS patients are prone to develop germ cell cancer, even though with lower incidence than in dysgenetic gonads secondary to defects in organogenesis.Case presentation: We described a 3-years-old gir...