ESPE Abstracts

Background: Turner Syndrome (TS) is a chromosomopathy affecting 1 out of 2000-2500 live births. Although short stature, heart disease and ovarian dysgenesis are the best-known features, patients have variable cognitive impairments. Aim of this study is to analyze the cognitive profile of a cohort of patients enrolled between February 2018-March 2023.Methods: 49 TS patients [Group A: 45, X0 (n=13); Group B: mosai...

Background: Foramen magnum stenosis (FMS) is a life-threatening complication in children with achondroplasia (ACH) which may require cervicomedullary decompression (CMD). There is no evidence if FMS and CMD affects growth in children with ACH.Aim: To evaluate the impact of FSM and CMD surgery on anthropometric measurements in children with ACH.Methods: Sixty-five patients with ACH ...

Background: In pediatric practice, as a rule, differential diagnostics between the three main types of diabetes insipidus DI is to be made: central DI, renal DI and physiological polydipsia of infants – the separation of which is extremely important for the prescription of pathogenetic treatment.Objective: To make a differential diagnostics of various forms of DI.Methods: The study involved 14 patients (ten girls and four boys...

Background: Wolfram syndrome (WS) is a monogenic disorder associated with diabetes mellitus (DM), optic atrophy, diabetes insipidus (DI), neurological deterioration and deafness. Growth has been poorly characterised in case series.Objective and hypotheses: To determine growth and prevalence of endocrine disorders, qualify therapies and metabolic outcome for DM, and relationship of cranial MRI findings to clinical findings in children and young people (CY...

Introduction: Post-operative management of fluid and electrolyte imbalance after surgery for pituitary or suprasellar tumors could be challenging. Post-operative course could include diabetes insipidus (DI) (transient or permanent) or a classical triphasic response (initial phase of DI followed by a second phase of transient SIADH and third and final phase of permanent DI). Mainstay of management of SIADH in these patients involves fluid restriction. At times,...

Background: True diabetes insipidus (DI) is a rare disease in children, defined as the excretion of hypotonic urine and polydypsia, secondary to an absolute or relative deficiency of antidiuretic hormone arginine vasopressin (central DI) or a resistance to the action of this hormone (nephrogenic DI). To differentiate from primary polydypsia.Objective and hypotheses: We report the case of AM a 13 years old girl, with personal history of cholecystectomy at...

Background: In a paediatric setting polydipsia can be a commonly reported symptom which is usually innocent and habitual in nature. Diabetes Insipidus is a rare cause of pathological polydipsia. A high index of suspicion must be used in patients who exhibit other symptoms alongside polydipsia and investigations considered.Case presentation: We present three patients who have presented to a district general hospital within a short period of time with subs...

Background: Hypopituitarism is a rare condition characterized by the insufficiency of 2 and more hormones produced by anterior pituitary gland. The major causes of hypopituitarism are brain tumors located near or in the pituitary gland and/or hypothalamus, cranial radiation, chemo- or surgical therapy, cranial traumas, neuroinfections, autoimmune hypophysitis (immune-mediated inflammation of pituitary gland) etc. Brain tumors are the second most frequent type ...

Background: Congenital diabetes insipidus (DI) can be due to mutations in the arginine vasopressin (AVP) gene (familial neurohypophyseal DI), the AVP receptor type 2 (AVPR2) or aquaporin 2 (AQP2) genes (congenital nephrogenic DI, NDI). The clinical manifestation of congenital NDI, especially the response to AVP, can vary greatly depending on the functional effect of the AVPR2 mutation. Here we present two male siblings with NDI and partial response to ddAVP.<p class="abste...

The epidemic spread of obesity in children has triggered the commitment of scientific research, which has allowed us to understand its genetic basis; the different forms of genetic obesity share common clinical aspects, making it difficult to achieve a molecular diagnosis based only on our clinical suspicion. We report a female patient presented with neonatal hypotonia, hyperphagia and early onset excessive weight gain, strabismus and high hypermetropia. Regarding her neurodev...