ESPE Abstracts

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: 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: 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: Children with familial forms of central diabetes insipidus (CDI) display polyuria and polydipsia within the first years of life.Objective and hypotheses: We hypothesize that children with an early-onset idiopathic CDI might be affected by de novo genetic mutations.Method: Eleven children aged between 1 month and 7 years with polyuria and polydipsia and negative family history were enrolled. In nine of them with...

Background: Children with familial forms of central diabetes insipidus (CDI) display polyuria and polydipsia within the first years of life.Objective and hypotheses: We hypothesize that children with an early-onset idiopathic CDI might be affected by de novo genetic mutations.Method: Eleven children aged between 1 month and 7 years with polyuria and polydipsia and negative family history were enrolled. In nine of them with...

Background: There is still need to define permanent GHD after adult height achievement in young adults with childhood-onset GHD (COGHD).Objective and hypothesis: To reassess GH response during transition.Method: We present the final data of 129 subjects (71M) recruited from a multicenter cross-sectional observational study, in whom anthropometrics, ITT (n=99), GHRH–arginine (n=122), IGF-1 evaluations were und...

Central diabetes insipidus (CDI) in children is caused by brain tumors, Langerhans cell histiocytosis (LCH), trauma, infections, or genetic abnormalities in about 60% of the cases. In the remaining 40%, CDI is idiopathic even after detailed clinical and radiological investigations. Aim of the study was to assess whether measurement of serum antibodies against human growth hormone (GH) could aid in the identification of the etiological factors for CDI.<p class="abst...

Objectives: To evaluate the potential diagnostic role and sensitivity of T2-weighted DRIVE sequence in pituitary stalk (PS) identification and measurements in patients with hypothalamic-pituitary disorders. The degree of agreement and reliability between standard pre- and post-contrast T1-weighted images and T2-DRIVE will be tested in a large group of patients with pituitary dysfunction.Design: We searched for pituitary MRI reports using ‘T2-DRIVE&#...

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...

Silver-Russell syndrome (SRS) is a rare heterogeneous syndrome associated with severe prenatal and postnatal growth retardation.Context: There is little information on puberty onset and bone age trend in children with SRS.Study Design and partecipants: Retrospective observational study, including patients with a confirmed diagnosis of SRS divided in 2 molecular groups [ 11p15 loss of methylation, (...