ESPE Abstracts

Objective: The number of heavy newborns is increasing steadily. Often the gestational diabetes (GDM) has not been identified even though an increasing number of pregnant woman are being screened. We examined in a circumscribed area how often the pregnant women passed through an oral glucose tolerance test (oGTT) and had it been realized and interpreted according to the AWMF guidelines.Methods: In this prospective study we analyzed the OGTT results from 1...

Background: Silver-Russell syndrome (SRS) is reported to be associated with early adrenarche, but substantial studies are lacking.Objective and hypotheses: We aimed to determine the median age at onset of adrenarche, the prevalence of premature adrenarche as well as its causes and consequences.Method: Currently we have collected longitudinal data from 40 children with SRS seen during the last 20 years in our centre. The patients fu...

Background: Determining fat mass (FM) using methods of body composition analysis is useful in diagnosis and treatment of obese adolescents who undergo life style intervention. The use of dual-energy X-ray absorption (DXA) is time-consuming, potentially harmful and expensive. Alternative methods for accurately estimating FM are needed.Objective and hypotheses: We evaluated single-frequency arm-to-leg bioelectrical impedance analysis at 50 kHz (sf-BIA) in ...

Background: Recently we demonstrated that male adolescents with severe GHD (sGHD) had a significant decrease of lean body mass and increase in fat mass after stop of GH-therapy. The functional consequence of this observation is unknown.Objective and hypotheses: The aim was to study the changes in parameters of jumping mechanography in adolescents with GHD in the transition period (end of growth) after stop of GH-therapy.Patients an...

Background: Male adolescents with severe GH deficiency show both loss of lean body mass (LBM) and gain of fat free mass (FFM) when off GH treatment. We recently showed that determining gain of FFM and loss of LBM by dual-energy x-ray absorption (DXA) is helpful in the diagnosis of severe GHD during transition as these body composition changes are correlated to the GH-peak of the arginine-GHRH-re-test.Objective and hypotheses: We wanted to explore if the ...

Background: A small subgroup of children with isolated growth hormone deficiency (IGHD) develop central hypothyroidism (CH) during GH treatment. Prognostic parameters are still unclear.Objective and hypothesis: Long-term evaluation of children with initial diagnosis of IGHD to identify those with an unmasking CH under GH treatment. IGHD was diagnosed in children with short stature, low height velocity, retarded bone age,...

Introduction&Aim: Activation of mechanistic target of rapamycin (mTOR) as a major regulator of adipogenesis and lipid accumulation is controlled by upstream regulators hamartin/tuberous sclerosis complex (TSC) 1 and tuberin/TSC2. Hamartin and tuberin form a protein complex that inhibits signal transduction to mTOR. The impact of TSC1 deficiency is not clearly defined in human adipose tissue. We identified a likely pathogenic TSC1 splicing variant in a lipo...

Background: Restarting rhGH treatment in adolescents with childhood-onset GH deficiency (CO-GHD) is usually based on the GH re-test, IGF-1, additional pituitary hormone deficiencies and pituitary gland morphology, but not on body composition. Short-term changes of body composition in adolescents with CO-GHD when off rhGH may contribute to the identification of those in need of continuation of treatment.Study design: In this prospective single-centre stud...

Background: Serious mental and physical retardation are sequelae of untreated congenital hypothyroidism. These complications have become rare since the introduction of neonatal screening in Germany.Case report: Here we report about a girl with congenital hypothyroidism, who suffered from extreme short and thickset stature, rough facial features and straw-like hair at the age of 12 years. She had been detected in newborn screening with a TSH of 132 IU/ml....

Background: Recently we described a family with several members having intrauterine and postnatal growth failure as well as signs of Silver–Russell syndrome (SRS) who carried a heterozygote nonsense mutation of IGF2. The patients had low IGF-II serum levels, but normal IGF-I serum levels.Objective and hypotheses: We aimed to estimate the diagnostic value of the IGF-II, IGF-I and IGFBP-3 measurements in the assessment of children with SRS.<p clas...