ESPE Abstracts

Background: Skeletal dysplasia is the main cause of disproportionate short stature. The severity may vary. The present patient had disproportionate short stature with brachydactyly.Patient and method: A boy of 5 years old presented with height 108.9 cm (−1.8 S.D.), sitting height/height ratio was +3.4 S.D., short hands and feet with short metacarpal 4 and metatarsal 4 on both sides. He had increased lumbar lordosis and...

Background: Congenital hypothyroidism (CH) has a high incidence, with a local increase in our screening relieves in the last years.Objective and hypotheses: An accurate follow up and an appropriate treatment guarantee an adequate neurological and auxological development.Method: We describe the personal report of 74 children (27 males and 43 females) with CH, diagnosed by neonatal screening and followed for 8.5±5.3 years.<p...

Background: Hashimoto thyroiditis (HT) is the most frequent acquired thyroid disease in childhood and adolescence. However it can evolve silently also for a long period, without signs and/or symptoms evocative of the diagnosis.Objective and hypotheses: A late diagnosis can reduce growth velocity, increase weight and particularly BMI, with an increased risk of obesity in pubertal age.Method: We analyzed 39 patients (age: 11.3±3...

Background: Peak GH level during stimulation tests (STs) stands as an important parameter in growth prediction models and recently it was shown that timing of the peak value in glucagon stimulation test (GST) may be an important indicator of growth hormone deficiency (GHD).Objective and hypotheses: To detect a possible relationship between timing of the peak value of GH during STs and the effectiveness of treatment with rhGH in children with idiopathic G...

Background: Imprinting disease such as Prader-Willi syndrome (PWS) are associated with pathological sleep due to central and obstructive apneas. No data are available concerning Silver Russell syndrome (SRS) but most patients describe day asthenia and snoring. These patients also often present with maxillo-facial malformations.Aims and objectives: We wanted to characterise sleep in SRS and evaluate GH therapy possible effect on it....

Objective: Silver-Russell syndrome (SRS) is an imprinting disorder characterized by severe intrauterine and postnatal growth retardation and feeding difficulties. Patients can benefit from recombinant growth hormone (rGH) therapy which has shown its positive effect on adult height. Our objective was to assess the short-term effects of rGH therapy on growth and nutritional status in prepubertal patients with SRS.Design: Retrospective anal...

Introduction: CAH-X syndrome refers to a subset of Congenital adrenal hyperplasia (CAH) patients who display the hypermobility phenotype of Ehlers–Danlos syndrome (hEDS) due to the monoallelic/biallelic presence of a CYP21A2 deletion extending into the TNXB gene (chimeric TNXA/TNXB gene). To date, three different TNXA/TNXB chimeras have been described, CH-1 (presence of a TNXA-derived 120bp deletion in exon 35 of the <...

Background/Aims: Pediatric obesity remains an ongoing serious international health concern. Whether liver dysfunction is related to thyroid dysfunction in this population is controversial. Compare SGPT, TSH, FT4 and insulin resistance indexes between children with obesity or severe obesity.Methods: 279 children (143 females) with ΒΜΙ (≥95percentile) (CDC BMI curves) were divided in two groups (Group 1, ob...

Introduction: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by impairment of one of the enzymes involved in the steroidogenesis pathway. CAH due to 21-hydroxylase deficiency (21-OHD) is attributed to mutations of the CYP21A2 gene and is distinguished into classic [salt wasting (SW), simple virilizing (SV)] and non-classic form. Herein we present a) the genetic investigation of 526 subjects with suspicion of 21-OHD in t...

Context: Mitochondrial encefalo-cardio-myopathy due to TMEM70 mutation is a very rare disease with frequent neonatal onset accompanied by laptic acidosis, hyperammonemia and 3-methylglutaconic aciduria.Case presentation: Patient DT presented at 7.5 years due to short stature (height -3.11 SDS, MPH -1.09 SDS; weight -4.41 SDS), in the context of a complex syndromic picture characterized by intrauterine growth retardation,...