Endocrine Abstracts

GATA3 mutations cause the congenital autosomal dominant hypoparathyroidism, Deafness and Renal dysplasia (HDR) syndrome. GATA3 belongs to a family of dual zinc-finger transcription factors that recognise the consensus (A/T)GATA(A/G) motif and are involved in vertebrate embryonic development. We investigated a HDR proband for GATA3 abnormalities. Venous blood was obtained after informed consent, as approved by the local ethical committee, and leukocyte DNA extracted. GATA3 spec...

Background: The aetiology of delayed puberty in children with inflammatory bowel disease (IBD) is unclear.Methods: Retrospective analysis of 27 children with IBD with growth retardation and/or pubertal delay, who had basal LH and FSH (27) and LHRH stimulation test as part of clinical evaluation (25). Height velocity was converted to SDS for bone age for girls >11 years and boys >12 years to adjust for delayed puberty. Data expressed as median (ra...

Background: Whilst puberty is understood to be commonly effected in adolescents with Crohn’s disease (CD) and ulcerative colitis (UC), the extent of this effect as well as related problems with growth have rarely been quantified.Objective: To determine the impact of CD and UC on Size, Tempo and Velocity of the growth spurt.Methods: Retrospective study of 142 children with IBD (case notes available, 68) who fulfilled the criter...

Introduction: Transcriptome analysis of peripheral blood mononuclear cells (PBMC) RNA has identified a set of androgen-responsive non-coding RNAs.Aim: To quantify the androgen-responsive gene expression and investigate its relationship to the testosterone (T) rise following hCG stimulation in boys with no genetic evidence of androgen insensitivity.Methods: Boys with suspected DSD who were evaluated at the Royal Hospital for Childre...

Objective: Self-reported volume of patients and specific interventions is a specific network criterion that needs to be fulfilled by reference centres that are eligible for inclusion within Endo-ERN. The aim of the present study is to evaluate how self-reported volume data in the original applications were obtained, which data are retrievable, and which set is best suitable to use for future centre evaluations. This overview is provided for two Main Thematic Groups (MTGs) of E...

Background The European Registries for Rare Endocrine Conditions and the European Registries for Rare Bone and Mineral Conditions were created in collaboration with the European Reference Networks for Rare Endocrine and Bone Disorders (Endo-ERN and ERN BOND). Following the onset of the COVID-19 pandemic in 2020, the registries, together with the ESE RD Committee, have collected the occurrence of confirmed and suspected cases of COVID-19 in patients with rare endocrine and bone...

Background: Venous thromboembolism(VTE) is a well-known perioperative complication in patients with Cushing’s syndrome(CS) and may be preventable. A recent report highlighted that thromboprophylaxis management in patients with CS still varies considerably across Endo-ERN reference centers but the actual incidence of VTE and its management in individual patients is unclear.Aim: To collect epidemiological and clinical data of new cases of CS reported ...

Background: Hypospadias in boys may be associated with a lack of androgen exposure during the masculinisation programming window. As testosterone has effects on the vasculature, we assessed whether boys with hypospadias show evidence of vascular dysfunction.Methods: Excess foreskin tissue was obtained from boys undergoing hypospadias repair (cases) or circumcision (controls) and small arteries dissected. Vascular contractility was assessed by wire myogra...

Introduction: The insulin tolerance test (ITT) is the gold standard method to assess GH and/or ACTH deficiency. Safety concerns with the use of this test were raised more than 20 years ago from overtreatment of hypoglycaemia and consequent cerebral oedema, resulting in some centres using alternative tests. We have re-appraised use of the ITT in a contemporary setting and evaluated: i) timing of the glucose nadir, ii) time to resolution of hypoglycaemia, iii) adverse events and...

Background: Calculation of a urinary steroid metabolite ratio (uSMR) may be a useful method of improving diagnostic yield when investigating disorders of steroid hormone synthesis.Objective & HypothesisTo investigate the range of uSMR in children with suspected disorders of steroid hormone synthesis.Population / MethodsTen ratios were calculated on steroid metabolite data analysed b...