ESPE Abstracts

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...

Background: Subjects with non classical congenital adrenal hyperplasia (NCCAH) often present an increased growth velocity secondary to elevation of adrenal androgens that promote early bone maturation and compromise final height (FH). The aim of the study was to analyze prognostic factors affecting growth trajectory and FH in children with NCCAH.Design: retrospective, multicentric studyStud...

Background: Menarche is a significant event in the reproductive life of a woman and represents the late event in puberty indicating that a sexually immature child has become reproductively capable. Even though the timing of puberty onset is approximately conserved in different populations, the puberty starts across a wide range of ages in normal girls. However, in the last decades we are observing that girls are experiencing earlier breast development and earlier menarche, als...

Background: Coeliac disease (CD) can be associated with impaired growth in children after a prolonged period of Gluten-free diet (GFD). A small percentage of CD patients does not show catch-up growth during GFD because of GH secretion deficiency (GHD) that could be associated with antipituitary autoantibodies (APA).Objective and hypotheses: This study aims to evaluate the efficacy of recombinant human GH (rhGH) therapy on final adult height in children w...

Background: There is increasing evidence from epidemiological studies that some man-made chemicals present in the environment can disrupt endocrine homeostasis in exposed humans. Exposure during foetal life to e.g. phthalates has been linked to adverse effects on testicular and ovarian development, thyroid homeostasis and growth in postnatal life. Exposure to phthalates fluctuates not only from day to day but also over time which poses a major challenge for ex...

Background: Complex fluid balance problems are well established post-neurosurgery and traumatic brain injury (TBI). The triple-phase response requires fluid management strategies reactive to urine output as patients shift between DI and SIADH. Prevalence of CSW is controversial; but ensuring sodium homeostasis is central to safe fluid management. To improve clinical care for these complex patients an audit of existing institutional guidelines was undertaken. N...

Introduction: Septo-optic dysplasia (SOD) is an uncommon, highly heterogeneous entity of multifactorial etiology, consisting in the association of 2 or more of the following characteristics: ophthalmological abnormalities [most frequently optic nerve hypoplasia (ONH)], midline brain abnormalities [such as aplasia/hypoplasia of the septum pellucidum (SP) and/or corpus callosum (CC)] and variable degree of hypotalamo-pituitary insufficiency (HPI)<p class="ab...

In Italy, treatment of children with CP is not centralized. We collected data of 117 patients (pts) (M/F 56/41) with CP diagnosed after 01/01/2000, followed-up in 14 centres of paediatric endocrinology belonging to the I.S.P.E.D. Five centres provided data on more than 10 pts (range 12-19), while the remaining on 1-9. 46 pts were diagnosed between 2000-2010 and 71 afterwards. Follow-up was 7.5±4.1 yrs.Results. Histology was adamanti...

Background: Mutations in POU1F1 is a rare cause of combined pituitary hormone deficiency, which commonly includes GH, TSH and prolactin deficiencies and characterised by hypoplastic anterior pituitary.Objective and hypotheses: To present a case of severe short stature and developmental delay 1.5 years old girl, who was admitted to our hospital because of short stature.Method: Hypopituitarism panel’ genes were sequence...