ESPE Abstracts

Background: GH deficiency (GHD) occurs due to different aetiologies, morphological abnormalities in pituitary, or mutations leading the individual to lose the genetic growth potential. The pituitary dysfunction can be as GHD alone or associated with other hormones deficiencies. Patients with abnormalities in pituitary may present a greater height loss than others and couldn’t reach the target height (TH) according to final height (FH).Objectives: To...

Background: Craniopharyngioma is a non-malignant embryonic tumour in the pituitary-hypothalamic area, associated with hypothalamic obesity. Dysfunctional parasympathetic nervous system activity has been proposed as one mechanism underlying alterations in energy metabolism. Arterial spin labelling (ASL) is a non-invasive MRI technique that quantifies brain tissue perfusion as a proxy for functional activity. Here, we measure cerebral perfusion in patients with ...

Background: Craniopharyngioma is a non-malignant, embryological brain tumour in the sellar and parasellar region. Hypothalamic damage is common and accompanied by development of obesity in at least 50% of cases. Mechanisms underlying hypothalamic obesity in craniopharyngioma patients however remain unclear and treatment options are invasive and limited. This feasibility study included a novel application of functional neuroimaging, an established method in obe...

Introduction: Paediatric morbid obesity (BMI >99.6th centile for age) causes severe obstructive sleep apnoea (OSA) requiring respiratory support. Patient prognosis is poor and requires urgent intervention. Four patients with morbid obesity and severe OSA were admitted for multidisciplinary team (MDT) intensive weight management and continuous positive airway pressure (CPAP) initiation.Methods: The patients...

Background: Children and young people living with severe obesity experience a range of complications of excess weight (CEW), however the prevalence of complications is not well defined. We have evaluated baseline clinical characteristics and CEW of patients seen in two multi-disciplinary tier-3 paediatric weight management services in different regions of the UK.Methods: All new patients (n=185) aged 2-17 years ...

Background: In Androgen insensitivity syndrome (AIS) is a hereditary disease in which AR mutations in 46,XY patients present with partial (PAIS) or complete (CAIS) defects in virilisation.Objective and hypotheses: The aim was to analyze the effect of lack of androgen action in germ cell (GC) health and survival along postnatal development, previous to Sertoli cell (SC) pubertal maturation.Method: The histological features and quant...

SHOX haploinsufficiency (SHOX-D) is a cause of disharmonic short stature and a possible genetic cause of idiopathic short stature also in familial cases. We describe clinical, hormonal and genetic characteristics of patients with SHOX-D haploinsufficiency, followed and treated in the period 2014–2017, in a single Italian centre. The Rappold score was used to screen short children, to select those who needed a genetic analysis of SHOX gene by MLPA and sequencing. We select...

We report the case of a seven-year-old boy, unicogenised child, born at 33w, PN 1,540 Kg, (APGAR 8-10), hospitalized in neonatology unit for 30 days, invasive respiratory assistance was not necessary. At birth evidence of hypospadias with penile incurvation, oval fossa pervia, corpus callosum agenesis. Normal male karyotype. For positivity to screening for IC (in-situ normal thyroid), started L-Thyroxine therapy. When he was six the phenotype showed broad forehead, down-slant...

We report a case of a 10-year-old girl born at 41st week and spontaneous birth, in therapy with analogous GnRH for idiopathic central puberty. At 4 years bilateral thelarche, performed first and second level investigations and recives diagnosis of early idiopathic central puberty. Since then, therapy with triptorelin 3.75 mg i.m every 21 days was administrated. Regular checks, good compliance, and response to therapy. At 10 years old recurring episodes of headache and vertigo....

Gonadotropin-releasing hormone (GnRH) is the master hormone regulating the reproductive axis and its pulsatile secretion is crucial for puberty onset and fertility. Disruption in GnRH neuron development or hypothalamic function can lead to absent or delayed puberty (DP) due to GnRH deficiency, with a phenotypic spectrum from severe delayed puberty to partial or complete Hypogonadotropic Hypogonadism (HH). HH can also be present as a shared trait with other neurodevelopmental d...