ESPE Abstracts

Background: Maternal diabetes is a pathologic state that increases the incidence of complications in both the mother and the foetus. Patients with diabetes mellitus (DM) may exhibit reproductive abnormalities, including PCOS and hypogonadotropic hypogonadism. Diabetes during pregnancy is an endocrine disruptor and studies performed in animal models have shown abnormalities in gonadal function in the offspring, but it is unknown whether pre-gestational (PGDM) and gestational di...

Results: During the years of this study, the prevalence of NB reported as suspected with CH was 1:1220 NB, showing a stable trend on the linear tendency analysis; when adjusted for cases with confirmed high values of TSH in umbilical cord measurement, the prevalence is 1:3041 NB. Regarding the demographic data of the patients analyzed, it was found 54% were men and 46% women. Of the total CH cases with a reported weight, 20% weighted less ...

Introduction: Failure to thrive (FTT) is a common entity encountered by pediatricians. It can be caused by inadequate energy intake or “organic causes” such as inborn errors of metabolism or disorders of the endocrine system. One cause that is rarely seen is a deficiency of aldosterone.Case presentation: A set of 3-month-old monozygotic male twins presented with failure to thrive and dehydration. Initially, they were evaluated ...

Objectives: Recombinant growth hormone (rhGH) treatment helps to achieve a final height close to the parental growth potential in children with GH deficiency (GHD) and small for gestational age (SGA). Less is known about efficacy and safety of long term therapy with biosimilar rhGH. The aim of our study is to assess height gain and safety of therapy with biosimilar rhGH (Omnitrope®, Sandoz) in Czech children with GHD and SGA over the first three years of ...

Background/Objectives: Hypergonadotropic hypogonadism (HH) is characterised by primary gonadal failure with excess of pituitary gonadotropin secretion. The causes can be congenital or acquired. Herein, we report a case of a 10-years-old-boy with obesity, development of HH during follow-up and a novel genetic variant in NR5A1 (SF1) gene with de novo origin.Methods: The child presented with obesity (started at the age of 5...

Children born small for gestational age (SGA) not showing catch-up growth in the first two years of life may show decreased growth rate and adult height, as well as worse metabolic profile, compared to general population. In these patients, growth hormone (GH) treatment is recommended, showing positive effects on both growth rate and metabolic profile, with good tolerability. The aim of the current study was to evaluate the auxological and metabolic effects and the safety of G...

Introduction: Systematic newborn screening (NBS) based on 17 ɑ OHP, followed by molecular analysis for the most frequent adrenal enzyme steroid abnormalities in newborns at high risk for congenital adrenal hyperplasia (CAH), allowed to reveal the nature of genotype-phenotype correlations in most of the patients (pts) presented as “classical CAH” – salt wasters (SW) or simple virilizers (SV). According to the enzyme rest activity they co...

Children affected by idiopathic infantile hypercalcemia (IIH) may develop polyuria, polydipsia, failure to thrive, developmental delay and nephrocalcinosis already during the first weeks of life. Elevated levels of activated 1-,25(OH)2D3 have been shown to cause the characteristic increase in serum calcium levels in this disorder. Two major underlying genetic causes have been identified so far: in IIH type 1 loss-of-function mutations in CYP24A1 ...

Background: An increased incidence of Type 1 diabetes has been observed worldwide over the past 30 years. Obesity is a well-documented risk factor for Type 2 diabetes (T2D), but poor studies have postulated an association between the obesity and overweight and the rate of T1D in these age groups. This is known as Accelerator Hypothesis. In addition, a further effect seems to be exerted COVID-19 pandemic which is related to raised rate of T1D onset and obesity....

Introduction: The first patient with Temple syndrome (TS, ORPHA 254516) was described in 1991. The genetic condition is rare (prevalence<1/1000 000, <100 described patients). An abnormal expression of genes in the imprinted 14q32.2 region has been revealed. The 14.32.2 region is characterized by three differentially methylated regions (DMRs) and a cluster of paternally and maternally expressed genes. Main clinical features are growth delay (pre-and postn...