ESPE Abstracts

Background: Aluetta® Smartdot™ (Merck Healthcare KGaA, Darmstadt, Germany) is first of its kind digitally connected smart injection pen device for recombinant-human growth hormone (r-hGH) administration. Aluetta® pen with Smartdot™ knob attachment integrated with Growzen™ digital ecosystem enables healthcare professionals (HCPs) to remotely monitor adherence and achieve optimal clinical outcomes for patients....

Background: Hypergonadotropic hypogonadism (HH) is an hallmark of Turner Syndrome (TS) and hormone replacement therapy (HRT) is often required for pubertal induction; this retrospective study highlights the pituitary-gonadal axis during infancy (<5 years), childhood (5–10.9 years) and adolescence (> 11 years) in a cohort of TS patients enrolled between February 1999 to March 2023. Our aim is to underline the diagnostic role of Gonadotropins as a ma...

Background: Langerhans cell histiocytosis (LCH) is a rare disease with an incidence of less than 10 per million, and characterized by the clonal proliferation of pathogenic Langerhans cells. The clinical courses are diverse, ranging from spontaneously remitting single organ disease to life-threatening multisystem involvement. One of the serious complications of LCH is diabetes insipidus (DI), and patients with CNS-risk lesions had higher cumulative incidence of DI. On the othe...

Introduction: Water and electrolyte disorders due to anterior and posterior pituitary deficiencies are common in children which are referred with intracranial tumors, especially arising from suprasellar and pituitary regions. But the prevelance and affecting factors of these disorders are not clear. We aimed that to determine the prevelance of postoperative water and electrolyte disorders and affecting factors in pediatric patients with intracranial tumors.<p class="abstex...

Background: Central diabetes insipidus (DI) is a well-known complication of CNS trauma or tumors, but is a rare complication of hypothermia. Review of the literature reveals scant case reports of DI as a complication of therapeutic hypothermia after cardiopulmonary resuscitation or head injury, but to date there has been no mention of DI resulting from hypothermia alone.Objective and hypotheses: Severe hypothermia alone may constrict CNS blood flow, mimi...

Background: Familial central diabetes insipidus (DI), usually an autosomal dominant disorder, is caused by mutations in arginine vasopressin–neurophysin II (AVP-NPII) gene that leads to aberrant preprohormone processing and gradual destruction of AVP-secreting cells.Objective and hypotheses: To determine clinical and molecular characteristics of patients with familial central DI from two different families.Method: The diagnosi...

Background: Severe congenital growth hormone deficiency (cGHD) is a rare but potentially life-threatening condition. Even though random growth hormone (GH) can confirm cGHD during the first week of life, the diagnosis remains extremely challenging in the absence of reliable reference values in healthy neonates and thus of a best diagnostic cut-off.Aims: First, to provide solid reference values for GH concentrations in te...

Introduction:Up to 20% of children with neurofibromatosis type 1 (NF1) develops low-grade optic pathway gliomas(OPGs) that can result in neuroendocrinopathy.The aim of the study was to identify prognostic factors for developing neuroendocrinopathies in patients with NF1 and OPGs before any treatment.Methods: Records of 117 children with NF1 and OPGs followed at 4 Italian centers between 1997-20...

Background: Antipituitary (APA) and antihypothalamus antibodies (AHA) have not been investigated in children and adolescents with brain tumors.Patients and Methods: Sixty-three patients with craniopharyngioma, glioma and germinoma treated with surgery and/or chemotherapy and/or radiotherapy were evaluated at a median age of 13 years. Forty-one had MPHD, 6 had a single defect being GH the most common (65.1%), followed...

Background/Aim: X-linked hypophosphatemia (XLH) is a rare disease caused by inactivating mutations in the phosphate-regulating endopeptidase homolog X-linked (PHEX) gene, characterized by chronic hypophosphatemia. XLH children present with progressive skeletal deformities (leg bowing, waddling gait, poor growth and disproportional short stature), dental abscesses, and craniosynostosis. Most affected children have been treated so far with multiple dail...