ESPE Abstracts

Background: rhGH therapy may improve linear growth in children with inflammatory bowel disease (IBD). Poor bone health and abnormal body composition are recognised complications in paediatric IBD.Objective and hypotheses: To investigate the effects of rhGH on bone health and body composition.Method: Sub-analysis of 13 children with IBD (12CD; 1UC) in a randomized controlled trial. Either rhGH (0.067 mg/kg per day) as daily s.c. inj...

Background: Childhood obesity and related co-morbidities are increasing world wide and consequently effective treatment interventions are much needed.Objective and hypotheses: The aim was to investigate concomitant changes in body composition in relation to changes in BMI–SDS during The Children’s Obesity Clinics Treatment (TCOCT) program. Hypothesis: reductions in body fat percentage may not be revealed by reductions in BMI–SDS.<p cla...

Background: Turner syndrome (TS) is one of the most common genetic disorders in females and occurs in phenotypic females who are missing all or part of one sex chromosome. While the most common mosaic forms of the disorder are 45,X/46,XX and 45,X/46,Xiq, mosaicism for cells containing Y chromosome material is well documented.Objective and hypotheses: Owing to increased risk of gonadoblastoma (GB), current recommendations are for elective gonadectomy foll...

Background: Mosaic Turner syndrome (TSM) commonly occurs in the form of 45,X/46,XX and 45,X/46,Xiq, although mosaicism including the presence of a Y chromosome has been well documented. It is associated with increased risk of gonadoblastoma (GB).Objective and hypotheses: To date, there are only six reported cases of TSM with a trisomy 18 karyotype, and only two of these were phenotypically female with 45,X, 47,XY+18 karyotype.Metho...

During development, gonadotropin releasing hormone (GnRH) neurons are born in the nasal placode and migrate to the hypothalamus, where they position to regulate sexual reproduction by pulsatile release of GnRH. Defective GnRH neuron development or action may lead to GnRH deficiency (GD) which is characterized by absent or delayed puberty. Several GD causative genes have been identified so far, but half of the cases are still idiopathic. The employment of complementary research...

Background: Therapy in type 1 diabetes has undergone a fundamental change over the last several decades, especially by the use of technical devices. Another change that took place is the growing awareness of sex differences of all kind, e.g. as influencing factors of metabolic control. Our study aimed to evaluate sex differences over two decades with regard to changes in glycaemic control, with regard to trends in insulin pump use and insulin dose. Migration b...

Introduction: Achieving/maintaining effective hormone suppression is fundamental in treating Central Precocious Puberty(CPP). CPP patients are vulnerable to late dosing as they cannot self-administer and require clinic/hospital visits for injections, currently exacerbated by COVID-19. In children, the hypothalamic-pituitary-gonadal axis may rebound faster than elderly oncology patients, so hormone escapes are possible with late dosing. Additionally, the stimul...

Loss of function mutations in SGPL1 (sphingosine-1-phosphate lyase) give rise to a multisystemic syndrome with predominating features of primary adrenal insufficiency (PAI) and steroid resistant nephrotic syndrome. Retrospective analysis of our patient cohort and the wider literature also demonstrated primary gonadal insufficiency in a third of male patients with microphallus and bilateral cryptorchidism (all with concomitant adrenal disease and high mortality in infa...

Whilst several key genetic contributors to the phenotype of central precocious puberty (CPP) have been recognized, many familial cases remain without clear a genetic aetiology. Causal genetic variants are reported in imprinted genes Makorin ring finger protein 3 (MKRN3) and Delta-like homolog 1 (DLK1), alongside Kisspeptin-1 (KISS1) and (KISSR1), implicating mis-regulation of transcriptional control of the kisspeptin and GnRH neuroendocrine systems in onset of CPP. We recently...

Introduction: In congenital adrenal hyperplasia (CAH), glucocorticoid (GC) treatment must perform two functions – to replace cortisol deficiency and to suppress the excess production of adrenal androgens. Unfortunately, androgen suppression usually requires supraphysiologic GC doses, which are associated with serious comorbidities. Our study examined the exposure or dose-dependent relationships between GCs and GC-related adverse events (GCRAEs) and comor...