ESPE Abstracts

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...

Introduction: Alstrom syndrome (ALMS) is an autosomal recessive disorder characterized by multiple organ involvement, including progressive cone-rod dystrophy, sensorineural hearing loss, childhood obesity, and type 2 diabetes mellitus. Pathogenic variants in the ALMS1 gene are the known cause for the occurrence of this devastating condition. Here, we reported a case of Alstrom syndrome with a novel homozygous variant in the ALMS gene, who presented to our cli...

Background: Diazoxide therapy is used as first line treatment in hyperinsulinaemic hypoglycaemia (HH). Apart from a single study reporting efficacy of low dose diazoxide in small for gestational age (SGA) infants, diazoxide has been reported to be used in doses of 5-20 mg/kg/day [1].Objective: To report the outcomes of infants with HH responsive to low dose diazoxide (≤5mg/kg/day).Method...

Background: Long-term treatment with recombinant human growth hormone (r-hGH) is often challenging for children and adolescents, their caregivers and healthcare professionals (HCPs), as treatment requires daily injections over several years. Connected digital health devices facilitate this by automating the injection process to improve comfort, reduce anxiety and collect GH treatment data so that accurate adherence information is available to HCPs in real-time...

Background: Septo-optic dysplasia (SOD) is a rare condition diagnosed in children with two or more of the following: hypopituitarism, midline brain abnormalities, and optic nerve hypoplasia (ONH). Children with SOD experience varied visual impairment and endocrine dysfunction. Autistic-like behaviours have been reported, however the nature and prevalence of these neurobehavioural impairments remain to be fully understood. The present systematic review aimed to...

Introduction: Resistance to thyroid hormones is defined as lack of response of peripheral tissues to triiodothyronine (T3) which is the active form of thyroid hormones. In general (85%) a mutation is detected in the thyroid hormone receptor β (THRB) gene and more rarely, the thyroid hormone receptor α (TRHA) gene.Case: A 4.7-year-old boy, was admitted to the pediatric endocrinology outpatient clinic of Akdeniz...