ESPE Abstracts

Background: Central precocious puberty (CPP) results from premature activation of hypothalamic-pituitary-gonadal axis, which leads to an increased release of gonadotropin-releasing hormone (GnRH). GnRH stimulates the development of secondary sexual features, rapid bone maturation and growth. GnRH agonists (GnRHa) represent the gold-standard therapy in CPP children and their use is responsible for pituitary GnRH receptors down-regulation, luteinizing hormone (L...

Achondroplasia is the most common skeletal dysplasia caused by a gain of function of the fibroblast growth factor receptor 3(FGFR3) that impairs endochondral ossification, exiting in short stature and altered bone microarchitecture. Although fractures and reduced bone mineralization are not comorbidities frequently reported, specific normative DXA data are lacking. Aim of the study was to assess bone density parameters in an Achondroplasia cohort. Fifty-seven patients (Female-...

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...

Introduction: Lysosomal Acid Lipase Deficiency (LAL-D) is a rare and systemic condition, secondary to LIPA gene mutations, responsible for lysosomal accumulation of cholesterol esters and triglycerides. Clinical manifestations are heterogeneous in terms of age of onset, severity and biochemical and radiological findings. Dyslipidemia, hepatomegaly and hepatosteatosis with hypertransaminasemia are the most common features. There is significant evidence of incre...

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...

Background: The syndrome of Taybi-Linder (TALS) or paramount dwarfism microcephalic of type 1 (MOPD1) is an uncommon illness characterized by an intra-uterine delay of growth, multiple malformations (short members, facial dysmorphie) and especially of the cerebral abnormalities. The infants carrying this disease can live until the age from 2 to 3 years and, often at the time of an infection, their state worsens quickly in a few hours (conscience disorder, convulsions) until th...

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...