Endocrine Abstracts

Background: Increased childhood cancer survival has resulted in an accruing cohort faced with potential infertility. We have previously shown that sperm cryopreservation is acceptable to 70–80% of adolescents and testicular volume, LH and testosterone concentrations positively predict success in ~33% that bank. However, little is known about semen characteristics in relation to age and puberty. Here, we present data on our subcohort of 79 boys who produced a semen sample ...

Introduction: Dual energy X-ray absorptiometry (DXA) scans are regarded as the gold standard for assessing bone health. However, an inability to distinguish between cortical and trabecular bone as well as the use of inapproapriate size corrections mean that this technique is of limited clinical use in conditions affecting either bone microarchitecture or patient size. We have trialled the use of high resolution MRI (micro MRI) in the measurement of bone microarchitecture in pa...

Introduction: A unique variant of familial glucocorticoid deficiency (FGD) exists in the Irish travelling community, a genetically isolated population with high levels of consanguinity. Affected children develop hypocortisolaemia and raised ACTH but retain normal renin and aldosterone levels. Children also have short stature, evidence of increased chromosomal breakage and natural killer cell deficiency.Methods: We sought areas of homozygosity common to a...

Introduction: Children with Laron’s syndrome have a classical phenotype which includes extreme short stature and mid facial hypoplasia. It is biochemically characterised by high levels of GH and very low IGF1 levels. These children fulfil the criteria for recombinant IGF1 (rhIGF1, Mecasermin) therapy, however this has to be balanced with possible side effects. This study looked at the short term efficacy and safety profile of six children (five males) with Laron’s sy...

Background: GH deficiency is associated with reduction in IQ and neural volumes (globus pallidum and thalamus). Significant relationships between IGF1, IGFBP3 and brain volumes have also been described in children born extremely preterm (total brain volume and cerebellum). No published studies report the relationship between markers of GH status and brain volumes in healthy children.Methods: Cognitive assessment, MRI brain and measurement of IGF1 and IGF...

Background: The level of 25OH vitamin D (25OHD) which separates deficiency from sufficiency is heavily deabted. With decreasing 25OHD levels, typical biochemical derangements set in, such as increasing parathyroid hormone (PTH) and alkaline phosphatase (ALP) levels, and decreasing phosphate and calcium levels. In adults, serum concentrations of PTH reportedly start to rise when serum 25OHD levels drop below 30 μg/l. Such data are scarce in children....

Introduction: Fracture incidence is increased during and after treatment for childhood acute lymphoblastic leukaemia (ALL). Studies using DXA, which measures a composite of both trabecular and cortical bone mineral density (BMD), have shown reduced BMD during treatment. We therefore used peripheral quantitative computed tomography (pQCT) to investigate changes in compartmental (cortical and trabecular) volumetric BMD (vBMD) and bone geometry, and evaluated the influence of tre...

Background: SOX2 is an early developmental transcription factor implicated in pituitary development. It consists of a N-terminal domain, a high mobility group (HMG)-DNA binding domain and a carboxyl-terminal domain. Heterozygous SOX2 mutations have been described in patients with a severe ocular phenotype and hypogonadotrophic hypogonadism (HH) with/without associated abnormalities. In vitro SOX2 interacts with β-catenin, a member of the Wnt signalling pathway, and...