ESPE Abstracts

Disorders of sexual development can be suspected from birth if there is genital ambiguity, but sometimes the diagnosis in girls is made at puberty due to lack of pubertal development or primary amenorrhea. Making the correct diagnosis has its relevance in sexual identity, in the initiation of the correct hormone replacement therapy and in its possible association with malignant gonadal tumors. We describe 2 cases with unusual presentation of girls with female phenotype and 46X...

Introduction: The European Registries for Rare Bone and Mineral Conditions (EuRR-Bone) are closely linked to the European Reference Networks on Rare Bone Diseases (ERN BOND) and Rare Endocrine Conditions (Endo-ERN) and with its registry EuRRECa. It is open to all professionals involved in the care of individuals with rare bone and mineral conditions. EuRR-Bone offers an electronic reporting tool (e-REC) for capturing newly encountered cases without collecting ...

Introduction: The European Registries for Rare Bone and Mineral Conditions (EuRR-Bone) was created in collaboration with the European Reference Network on Rare Bone Diseases (ERN BOND) and the European Reference Network on Rare Endocrine Conditions (Endo-ERN) to support the needs of healthcare providers, patients and researchers by providing high-quality registries. The Core Registry collects a set of Core Data Elements as well as longitudinal patient and clin...

Designing monomeric dual or triple agonists based on glucagon-like peptide (GLP)-1 with glucagon, and/or glucose-dependent insulinotropic polypeptide (GIP) are promising novel approaches for anti-obesity drugs tackling different weight-regulatory pathways, albeit such developments continue to suffer from significant gastrointestinal illnesses. Our own studies have focused instead on the combination of GLP-1 receptor agonists (GLP-1RAs) with neuropeptide Y1- and Y2-receptor (Y1...

Background: Anti-Müllerian hormone (AMH) is produced by granulosa cells in small follicles prior to gonadotropin dependent growth and serum levels reflect the number of small antral follicles. There are currently no longitudinal data of individual AMH levels from infancy to adolescence.Aim: To evaluate whether AMH in infancy and childhood is associated with AMH levels and ovarian morphology peripubertal and in adole...

Background and aim: PTEN hamartoma tumor syndrome (PHTS) is caused by germline mutation in the phosphatase and tensin homolog (PTEN) gene. PTEN is a tumor suppressor gene and antagonist of the growth and survival signalling Phosphoinositide 3-kinase (PI3K)/AKT/mammalian target of Rapamycin (mTOR)- cascade. Patients with PHTS, amongst other symptoms, develop lipomas, for which the underlying mechanism is not completely understood. To investigate the role of PTE...

Background: The male Hypothalamic-Pituitary-Gonadal (HPG) axis is transiently active during the first months of life with surging serum concentrations of reproductive hormones. This period, termed minipuberty, promotes masculinization, including testicular, and penile growth, as well as further testicular descent in males. It appears to be essential for priming specific cell types, i.e. Sertoli-, Leydig-, and germ cells, including subsequent growth and maturat...

Parental imprinting is an epigenetic process leading to monoallelic expression of certain genes depending on their parental origin. Imprinting disorders are a set of rare diseases that mainly affect growth and metabolism from birth to adulthood. These disorders are mainly due to methylation defects in imprinting control region that drive the abnormal expression of imprinted genes. Moreover, patients with imprinting disorders may present overlapping clinical features that can b...

Background: Congenital hyperinsulinism (CHI) is a chronic and complex rare endocrinopathy with dysregulated insulin secretion causing severe and recurrent hypoglycemia resulting in adverse neurologic and developmental sequelae in children. Current treatment options are limited and often inadequate to treat CHI. Dasiglucagon (DASI), a glucagon analog administered by subcutaneous continuous infusion, has demonstrated reduction in glucose infusion rate (GIR) in P...

Background-Aim: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders caused by defects in the steroidogenic pathway of the adrenal cortex. In their most severe forms, they produce adrenal insufficiency and virilization of external genitalia when involving the terminal enzymes of the cortisol and aldosterone synthesis pathway (21-hydroxylase (21-OHD, OMIM#201910) and 11-hydroxylase (11-OHD, OMIM#202010) deficiencies). Mutations of <e...