hrp0084p1-99 | Growth | ESPE2015

GH Hypersecretion in Children with NF1 and Optic Pathway Gliomas

Pedicelli Stefania , Cambiaso Paola , Macchiaiolo Marina , Galassi Stefania , Mastronuzzi Angela , Del Bufalo Francesca , Ubertini Graziamaria , Cappa Marco

Background: The association of NF1 with optic pathway glioma (OPT) and GH hypersecretion was initially described in some isolated cases, while the presence of PP was more frequently reported in these patients. Association of gigantism and precocious puberty (PP) in five children with OPT (isolated in two and associated with NF1 in three cases) has been recently published.Aims: To evaluate the frequency of GH hypersecretion in children with NF1 and OPT, t...

hrp0084p2-540 | Puberty | ESPE2015

A Case of Familial Central Precocious Puberty Caused by a Novel Mutation in the Makorin RING Finger Protein 3 Gene

Grandone Anna , Cantelmi Grazia , Marzuillo Pierluigi , Cirillo Grazia , Luongo Caterina , Micillo Flora , Giudice Emanuele Miraglia del , Perrone Laura

Background: Central precocious puberty (CPP) is often familial but its genetic cause is largely unknown. Very recently, the makorin RING finger protein 3 (MKRN3) gene, located on chromosome 15 in the Prader-Willi syndrome (PWS)-associated region (15q11-q13), has been found mutated for the first time in five families with familial precocious puberty, with a peculiar kind of transmission. In fact, it is an imprinted gene which is expressed only if transmitted from the father. Th...

hrp0084p3-838 | Fat | ESPE2015

Bioavailable Vitamin D in Obese Children: The Role of Insulin Resistance

Grandone Anna , Del Giudice Emanuele Miraglia , Cirillo Grazia , Di Sessa Anna , Umano Giuseppina , Marzuillo Pierluigi , Capristo Carlo , Perrone Laura

Background: Studies examining vitamin D levels in association with childhood obesity usually do not concurrently measure levels of vitamin D-binding protein and do not calculate the unbound, bioavailable vitamin D, that is considered the fraction of 25-hydroxyvitamin D able to exert biological activity.Objective and hypotheses: To evaluate in a group of children for the most part obese i) the concentrations of both total 25-hydroxyvitamin D and of the bi...

hrp0097rfc7.5 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2023

Sex differences in endocrine mechanisms during early human fetal brain development

Buonocore Federica , Del Valle Ignacio , P. Suntharalingham Jenifer , Moreno Nadjeda , Developmental Biology Resource Human , C. Achermann John

Introduction: The influence of sex chromosomes and sex hormones on early human brain development is still poorly understood. Expression of Y chromosome genes may influence aspects of brain maturation in the 46,XY fetus, but the contribution of different Y genes is unknown. Furthermore, a marked increase in testicular testosterone biosynthesis/release from the testis occurs at around 8 weeks post conception (wpc) in the 46,XY fetus, but it is unclear whether te...

hrp0097t13 | Section | ESPE2023

Single-nuclei RNA sequencing reveals potential mechanisms of ovarian insufficiency in 45,X Turner Syndrome

M McGlacken-Byrne Sinead , Del Valle Ignacio , Xenakis Theodoros , Nel Lydia , Liptrot Danielle , Solanky Nita , C Conway Gerard

Background: Turner syndrome (TS) arises from a complete or partial loss of one X chromosome (45,X) and is the most common genetic cause of primary ovarian insufficiency (POI) in women. Surprisingly little is understood about the pathogenesis of POI in TS beyond an acknowledged germ cell loss throughout the second trimester. Although X chromosome haploinsufficiency likely contributes, the variability in reproductive phenotype in 45,X TS suggests it is not the o...

hrp0095p1-102 | GH and IGFs | ESPE2022

Growth and Growth Delay in Children with Systemic Juvenile Idiopathic Arthritis: A Single Center Study

Cristina Maggio Maria , Genesia Alizzi Clotilde , Corsello Giovanni

Systemic Juvenile Idiopathic Arthritis (sJIA) is a chronic autoinflammatory disease, with significant complications that can give short-term and long-term disability with reduced quality of life. Growth delay and short stature are described in >40% of cases, with a complex pathogenesis. Chronic inflammation, long-term corticosteroids treatment, hepatic involvement, malnutrition decrease IGF-1 and GH biological effects. Corticosteroids inhibit growth velocity, bone maturatio...

hrp0095p1-142 | Multisystem Endocrine Disorders | ESPE2022

Two causes of short stature and delayed puberty in one patient: craniopharyngioma and celiac disease. A case report.

Simina MihutaMonica , Stoian Dana , Cepeha Cristina , Paul Corina

Introduction: Craniopharyngioma, a benign tumor, develops in the sellar/parasellar region. Diagnosis is usually late. Symptoms include severe headaches and vomiting, visual impairment, visual and olfactory hallucinations and at least one hormonal deficiency. Celiac disease is caused by an immune reaction triggered by gluten in the small intestine. Over time, due to inflammation, it causes malabsorbtion which can affect growth in children.<p class="abstext"...

hrp0092p2-192 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Shox-Haploinsufficiency Intra-Familial Phenotipic Variability and the Impact on Final Height: Report of a Pedigree

Maggio Maria Cristina , Mulè Flavia , Cardella Francesca , Corsello Giovanni

SHOX haploinsufficiency (SHOX-D) is a genetic cause of disharmonic short stature. However, the different impact on phenotype can show differences between patients with the same genotype.GH ameliorates final height, with significant differences between patients for the putative role of environmental factors who can influence growth.We describe the case of two sisters with SHOX-D (target height: 146.8 cm (-2.6SDS); mother: 146.5 cm; ...

hrp0092p2-225 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Unusual Presentation of McCune-Albright Syndrome in a 10-Year-Old Girl

Ciccone Sara , Bizzarri Carla , Cristina Matteoli Maria , Cappa Marco

Case report: A 10-year-old Italian girl presented with a painless, hard swelling in left fronto-orbital region noted two years earlier. She had no headache or other symptoms; ophthalmologic evaluation revealed no signs of intracranial hypertension; the visual field showed a reduced level of sensitivity in the upper sector of the left eye.Her previous medical history was not relevant except for a mild head injury reported two years earlier. The girl was a secon...

hrp0089p3-p245 | Growth &amp; Syndromes P3 | ESPE2018

Shox Haploinsufficiency in Short and Not Short Children: A Sigle Italian Cetre Data

Maggio Maria Cristina , Ragusa Saveria Sabrina , Miceli Roberto , Corsello Giovanni

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...