ESPE Abstracts

Background: Tall stature is defined as height >02 S.D. above the population mean. The most common cause is normal familial tall stature, but some cases are pathological and require special attention.Observations: We report four clinical cases corresponding to four diagnostic categories. We describe the diagnostic approach and difficulties encountered through these cases.Case 1: A boy aged 25 months was referred f...

Background: Estrogen insensitivity syndrome is a form of functional estrogen deficiency which is caused by a defect in the estrogen receptor type α (ESR1). As a result of the receptor mutation, estrogens cannot be recognized and hence initiate their biological action on pubertal growth, skeletal maturation, and accrual of bone mass. A mutation in the gene encoding ESR1 has been described in only 2 cases (one man and one woman). We now describe the first family with ESR1 m...

Background: Turner syndrome (TS) is a genetic syndrome caused by complete or partial absence of an X chromosome. It is the most common diagnosed sex chromosome abnormality in women, affecting 1/2000–2500 female live births.Objective and hypotheses: To determine to establish the clinical, hormonal, cytogenetic, and evolutive pattern of children with TS and to establish for correlations between genotype and phenotype.Method: We ...

Background: Prader-Willi syndrome (PWS), caused by loss of paternally imprinted genes in the 15q11-13 region, results in hypogonadism which is more severe in males.Objective: To review the gonadal status of patients seen in a dedicated PWS clinic from 1990–2013 inclusive so as to establish the clinical patterns and hence to optimise future management.Method: Retrospective case note review over a 23-year period.<p class="ab...

Background: In a previous study, we reported that adult height (AH) outcomes in growth hormone treated males with Silver-Russell syndrome (SRS) were negatively correlated with estradiol concentrations before start of puberty and in early puberty. Whether elevated estradiol concentrations originated from adrenal or testicular androgens is unclear. We aimed to describe androgen secretion patterns and investigate correlations between androgen concentrations and A...

Background: We have previously shown radioimmunoassay (RIA) and gas chromatography-tandem mass spectrometry (GC-MS/MS) to be comparable when analyzing estradiol and testosterone concentrations in prepubertal and pubertal children. However, the reliability for steroid hormone determination with RIA in umbilical cord blood is not known. In general, older studies using RIA show higher values of testosterone, than more recent ones using MS/MS.Patients and me...

Background: Children with Silver Russell syndrome (SRS) suffer from severe intrauterine growth retardation. During infancy, short stature and delayed bone maturation are common features. A majority of these children initially have a good growth response to GH treatment. A catch-up period of skeletal maturation is often seen in early puberty. Later in puberty poor height acceleration may be seen.Objective and hypothesis: The objective of this study was to...

Background: Neural crest (NC) cells emerge at the interface between neural and non-neural ectoderm, and migrate extensively to form a variety of NC derivatives such as peripheral neurons, glia, melanocytes, endocrine cells, and mesenchymal precursor cells. NC cells possess various unique properties and are capable of undergoing cell fate decisions across multiple tissues and germ layers. In zebrafish and mouse, GnRH neurons are reported to arise also from NC.<p class="abst...

Background: Gender differences in sex steroids and IGF1 are well known from pubertal years into adulthood. Few studies report data from pre-school years.Objective and hypotheses: To study gender specific changes in sex steroids and IGF1 at birth and at 5 years of age and correlate these with auxological measurements. There are gender differences in IGF1 levels due to differences in sex steroids already at birth and during pre-school years.<p class="a...

Objectives: In laboratory medicine, external quality assessment (EQA) schemes have become versatile tools for the detection of analytical flaws. However, for pediatric sex steroid levels EQA schemes are lacking. We aimed to investigate the suitability of different estradiol and testosterone immunoassays in a pediatric setting, in comparison with clinical liquid chromatography-tandem mass spectrometry (LC-MS/MS) assays.Methods:</s...