ESPE Abstracts

Background: OTX2 is expressed in the human brain and plays a key role in the eye development. OTX2 mutations are reported in patients with ano/microphtalmia, optic nerve or optic chiasm hypoplasia, ocular coloboma and retinal dystrophies, associated in some cases with brain or pituitary abnormalities.Objective and hypotheses: Most of OTX2 mutations are nonsense or frameshift, more rarely missense mutations occur.Method: We...

Background: The increase of global childhood obesity has led to an increase of associated co-morbidities also at a young age. The pro-inflammatory state and insulin resistance are two master regulators of several complications, including hypertension and pre-diabetes frequently connected in a complex crosstalk.Aim: To evaluate the relationship between glucose alterations and blood pressure and the pathogenetic involvemen...

Background: The term congenital hypothyroidism was introduced more than 60 years ago when Radwin et al. first described children with hypothyroid-associated features of severe intellectual disability and growth retardation. It is the most common endocrine congenital disorder and preventable cause of mental retardation. Newborn screening programs are an efficient tool for the secondary prevention of mental retardation associated with untreated congenital hypothyroidism...

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...

Introduction: Lipodystrophy syndromes are characterized by a progressive metabolic impairment secondary to adipose tissue dysfunction and genetic background. The role of microbiota is still uninvestigated.Objective: Evaluate the gut microbiome ecology in relation to dietary and clinical parameters in two infant siblings with congenital generalized lipodystrophy type 4 (CGL4) before and after treatment with recombinant le...

Background: systematic data about endocrinopathies in Rett syndrome (RTT) patients are still scarce and not univocal.Objective: to assess the prevalence of endocrinopathies in a pediatric population of RTT patients.Design: retrospective observational single center study.Methods: 29 caucasian patients (28 girls,1 boy) with genetically confirme...

Introduction: Autoimmune Polyglandular Syndrome Type I (APS1) is a rare condition caused by mutations in the AIRE gene (autoimmune regulator). The diagnosis is challenging and delayed due to its non-specific clinical manifestations such as candidiasis, hypoparathyroidism and hypoadrenalism. More than a hundred mutations of this gene have been described and hereby we present a girl who was found to have a novel mutation of AIRE gene with patho...