ESPE Abstracts

Background: Congenital Hypopituitarism (CH) is a rare heterogeneous genetic disorder characterized by the deficiency of pituitary hormones. CH can be associated with extra pituitary phenotypes such as midline craniofacial malformations. To date, a minority of patients carry pathogenic variants in more than 30 genes, and thus more than 80% of cases remain unresolved.Objective: To identify de novo pathogenic variants in no...

Diagnosis of craniopharyngiomas in childhood is often delayed due to nonspecific symptoms. In Italy all children are followed-up by paediatricians of the NHS and paediatric endocrinologists are present throughout the country. This would theoretically lead to an early diagnosis. We aimed to examine the clinical picture at diagnosis and duration of history before diagnosis in 117 patients (pts) followed-up at Endocrinology Centres belonging to the I.S.P.E.D..<p class="abstex...

Background: patients with childhood-onset craniopharyngioma (CO-CP) present long-term outcomes, including growth hormone (GH) deficiency and obesity. Currently, data on the effects of GH therapy (GHT) on the body mass index (BMI) in CP are inconclusive. Aims of the study were to evaluate BMI over time and its determinants in a large cohort of CO-CP patients treated with GH therapy (GHT).Methods: a multicenter retrospecti...

Background/Objective: 17bHSD3D is a rare genetic disorder that leads to disorders of sex development (DSD) in 46,XY patients. Phenotype at birth ranges from unsuspicious female genitalia to micropenises. Besides molecular genetic testing no reliable lab parameters have been established for pre-identifying patients through basal steroid-levels or hCG-testing. This bares the risk of under-, mis- or late diagnosis. Further, little research has been performed on psychological well...

Background: Heterozygous pathogenic variants in the ACAN gene underlie disproportionate short stature with characteristically accelerated bone age (BA) maturation and/or osteochondritis dissecans (OD)/early-onset osteoarthritis (OA).Objective: To describe the phenotypic spectrum and assess the response and safety of growth hormone (GH) treatment in children with a heterozygous pathogenic ACAN variant.</...

Background: Adherence to GH treatment is a challenge.Objective and hypotheses: We analysed the impact of treatment duration, treatment success, treatment indication, age, gender, pubertal stage, and height on treatment adherence (TA) to optimise treatment success.Method: Based on the easypod autoinjector used in the Saizen-online prospective, multicenter, open-label, noninterventional study we analyzed TA in 6 months periods. TA wa...

Background: Beckwith Wiedemann syndrome (BWS) is an overgrowth disorder with vari-able phenotype (hemihypertrophy, macroglossia, visceromegaly, malformations, and hypo-glycaemia in 30–50%) and predisposition for tumors, during the second part of pregnancy and first few years of life.Objective and hypotheses: Molecular characterisation of a patient with BWS was perfor-med to ensure adequate clinical management. This analysis revealed the most common ...

Background: Steroidogenic factor (SF1, NR5A2) regulates multiple genes known to be involved in gonadal development, adrenal development, steroidogenesis, and gonadotroph development. Heterozygous mutations in the NR5A1 gene have been described in association with mild to severe gonadal dysgenesis with or without adrenal failure. Homozygous mutations are rare and have also been described in association with gonadal dysgenesis with or without adrenal failure.<p class="abstex...

Background: Congenital hyperinsulinism of infancy (CHI) is the most common cause for persisting hypoglycaemia in infancy. Genetic causes are mutations in ABCC8 or KCNJ11 (coding for K+ATP-channel subunits), less frequently mutations in GCK or GLUD1. Further genetic examinations are usually performed only if phenotypic aspects point to other specific genes, such as the rare short chain 3-hydroxylacyl-CoA dehydrogenase (<...

Background: Reports on obesity, high blood pressure and reduced insulin sensitivity in children with classical congenital adrenal hyperplasia (CAH) indicate an increased cardiovascular risk.Objective and Hypotheses: To evaluate potential mechanisms, we analysed various parameters of the carbohydrate metabolism in children and adolescents with CAH.Method: Out of 86 patients with classical CAH, n=41 (21 m, 20 f; ages: 6.9&#1...