Endocrine Abstracts

Introduction: The 1 μg low dose short Synacthen tests (LDSST) and the glucagon stimulation tests (GST) have been suggested to be safer alternatives to the insulin induced hypoglycaemia stress test. The aim of this study was to compare the peak plasma cortisol concentration in response to a LDSST followed 60 min later by a GST in children undergoing investigation for short stature.Methods: We retrospectively studied 38 patients (19 female, 19 male) w...

Introduction: The clinical differentiation between androgen insensitivity syndrome (AIS) and 5 alpha reductase deficiency (5-ARD) can be difficult. Presenting features may be similar and initial investigations may still not be discriminatory.Methods: Case notes on a total of ten patients with the initial diagnosis of AIS or 5-ARD were retrospectively reviewed.Results: All ten children had a 46XY male karyotype. Four children were r...

Background: Dexamethasone (Dex) induced growth retardation in children is partly mediated by direct growth plate effects. In contrast, IGF-I induces bone growth and may ameliorate these effects.Aims: To determine the direct effects of Dex and IGF-I on bone length, cell proliferation and mineralisation in cultured fetal mouse metatarsals.Methods: 18-day-old fetal metatarsals were cultured in triplicate in serum-free medium for 12 days supplemented with either Dex 10<sup...

Background: Glucocorticoid (GC) induced growth retardation is partly due to effects on the growth plate but may vary depending on the pattern of GC exposure.Aims: To compare the effects of dexamethasone (Dex) and prednisolone (Pred) and timing of GC exposure on chondrocyte proliferation and terminal differentiation on the ATDC5 murine chondrocyte cell line.Methods: The cell line was fully characterized by assessing marker gene expr...

Background: X-linked hypophosphataemia (XLH) is a genetic condition that causes significant skeletal deformities and is associated with lifelong disability and pain. In October 2018, the NHS in England recommended burosumab, an anti-FGF23 antibody, for treating XLH with radiographic evidence of bone disease in children aged 1 year and over, and in young people with growing bones. The clinical and cost effectiveness of burosumab for treating adults with XLH is ...

Introduction: In the UK, GH therapy is licensed for use in GH deficiency, Turner Syndrome, Small for Gestational Age (SGA), Prader Willi Syndrome (PWS), SHOX deletion and Chronic Renal Failure (CRF). Worldwide there are a number of additional indications. The aim was to review the use of GH prescriptions in relation to indications and to evaluate if there were similarities or differences between the licensed and unlicensed groups.Methods: All children st...

Background: Chromosome analysis is always indicated in disorders of sex development (DSD), but the need for karyotyping in gender dysphoria (GD) is less clear.Aims and objectives: We therefore aimed to review the place of routine chromosome analysis in the management of GD in children and adolescents.Patients and methods: Five hundred and twenty children and adolescents with GD have been referred at the time of reporting to the two...

Introduction: The prenatal treatment of Congenital Adrenal Hyperplasia (CAH) with Dexamethasone (Dex) is effective at minimising virilisation in affected females. Treatment is initiated with Dex at 20 mcg/kg per day (max 1.5 mg/day) as soon as pregnancy is confirmed and continued to term in affected females only. There are concerns regarding neurocognitive difficulties in children exposed to prenatal Dex, but no reports of late intra-uterine deaths (IUD) attributed to prenatal...

Background: Several devices are available for the administration of recombinant GH. A prospective study was undertaken to look at those attributes of GH delivery device most important to patients when making their choice.Objectives: i) To understand which features of a GH device are considered most important to patients when choosing a device. ii) Comparison of patient’s device preferences at start of GH treatment and after 2 years of treatment. iii...

Background: Severe primary IGF1 deficiency (SPIGFD) is defined in children as a height less than −3sds, low IGF1 levels with normal growth hormone levels. Recombinant IGF1 (rhIGF1, Mecasermin) given twice daily as a subcutaneous injection is the only therapy available to improve the height potential in this group of children. However it may have important side effects including hypoglycaemia, growth of lymphoid tissue and injection site lipohypertrophy.<p class="abst...