hrp0082p2-d3-617 | Turner Syndrome | ESPE2014

Early Occurrence of Gonadoblastoma Found at Elective Gonadectomy in Turner Syndrome Mosaic for Y Chromosome

MacMahon J , Morrissey R , McDermott M , O'Sullivan M , Quinn F , Green A , Lynch S A , O'Connell S M

Background: Turner syndrome (TS) is one of the most common genetic disorders in females and occurs in phenotypic females who are missing all or part of one sex chromosome. While the most common mosaic forms of the disorder are 45,X/46,XX and 45,X/46,Xiq, mosaicism for cells containing Y chromosome material is well documented.Objective and hypotheses: Owing to increased risk of gonadoblastoma (GB), current recommendations are for elective gonadectomy foll...

hrp0082p2-d3-619 | Turner Syndrome | ESPE2014

A Child with Clinical and Cytogenetic Features of Male Edward Syndrome and Turner Syndrome with Bilateral Gonadoblastoma in Infancy

MacMahon J , Morrissey R , McDermott M , Quinn F , Green A , Lynch SM

Background: Mosaic Turner syndrome (TSM) commonly occurs in the form of 45,X/46,XX and 45,X/46,Xiq, although mosaicism including the presence of a Y chromosome has been well documented. It is associated with increased risk of gonadoblastoma (GB).Objective and hypotheses: To date, there are only six reported cases of TSM with a trisomy 18 karyotype, and only two of these were phenotypically female with 45,X, 47,XY+18 karyotype.Metho...

hrp0092fc9.6 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

[18F]F-DOPA-PET/MRI or /CT in Children with Congenital Hyperinsulinism

Empting Susann , Mohnike Konrad , Barthlen Winfried , Michel Peter , Wieland Ilse , Zenker Martin , Mohnike Wolfgang , Mohnike Klaus

Congenital hyperinsulinism (CHI) is a complex heterogeneous disease affecting 1 in 40.000 newborns. Recurrent hypoketotic hypoglycaemia led to permanent mental and motor disabilities in 30-40% of children. Histologically three types had been differentiated: focal, diffuse and atypical. Up to now, only focal-type CHI can be permanently cured by focus removal. Focal-type CHI is characterized by paternal inherited mutation of ABCC8 or KCNJ11 mutations. Therefore mutation anal...

hrp0086p2-p574 | Perinatal Endocrinology P2 | ESPE2016

Use of a Cord Blood F-Dex Monocyte Binding Assay to Study the Glucocorticoid Sensitivity in Premature Neonates

Madubuko Adaora , Giuliano Michael , Al-Khan Abdulla , Alvarez Manuel , Alvarez-Perez Jesus , Balboul Sarah , Aisenberg Javier , Ghanny Steven

Background: Glucocorticoids play an important role in the developing fetus; the most important of which is lung maturation by increasing surfactant production and release. Glucocorticoid receptor (GR) functioning changes throughout the fetal period, especially during the transition to extrauterine life. Given the importance of glucocorticoids in lung development and functioning, studying glucocorticoid sensitivity (GS) in this population would be helpful, especially in the pre...

hrp0086p2-p93 | Adrenal P2 | ESPE2016

Use of an F-DEX Monocyte Binding Assay to Measure Steroid Responsiveness of Patients and their Related Donors Undergoing Stem Cell Transplant

Gillio Alfred , Krajewski Jennifer , Donato Michele , Rowley Scott , Aisenberg Javier , Ghanny Steven

Background: Graft versus host disease (GVHD) is a complex disease resulting from donor T-cell recognition of a genetic disparate recipient, which is unable to reject donor cells after allogeneic transplant. Glucocorticoids (steroids) are the mainstay of acute GVHD therapy. Glucocorticoid resistance has been characterized in several inflammatory conditions including asthma, rheumatoid arthritis, systemic lupus, erythematosus, ulcerative colitis, and Crohn’s disease. Glucoc...

hrp0084p1-63 | DSD | ESPE2015

Gender Identity Prediction in Adulthood by HTP Test (House-Tree-Family) in 46, XY DSD Patients

Batista Rafael Loch , Inacio Marlene , Oliveira Jr Ari , Brito Vinicius N , Costa Elaine M F , Domenice Sorahia , Mendonca Berenice B

Background: Patients with 46, XY DSD present conflicts and issues related to gender identity (GI) and change to male social sex in patients registered in the female social sex is not rare. The HTP test is a projective psychological test, which assesses aspects related to sexual identification. GI in this test is defined as female (F), male (M) or ambiguous.Objective and hypotheses: To evaluate GI in patients with 46, XY DSD by the HTP test and compare th...

hrp0089p3-p173 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018

Outcome of Eight Patients with Congenital Hyperinsulinism (CHI) Studied with 18[F]Dihydroxyphenyl-Alanine Positron Emission Tomography Imaging (18F-DOPA-PET-CT) in Argentina

Tangari Saredo Ana , Flanagan Sarah , Alonso Guillermo , Caceres Juan , Troiano Marina , Bignon Horacio , Bastianello Maria , Graciela Del Rey , Ignacio Bergada

Congenital hyperinsulinism (CHI) results from inappropriate insulin secretion most commonly caused by mutations in the ABCC8 and KCNJ11 genes which encode for the pancreatic β-cells-ATP-sensitive-potassium channel (KATP) subunits SUR1 and KIR6.2 respectively. Diagnosis of CHI is based on the presence of detectable plasma insulin during hypoglycemia, suppressed β-hydroxybutyrate and NEFA. Diazoxide is the major treatment for CHI, sirolimus had also b...

hrp0082p1-d2-211 | Reproduction (1) | ESPE2014

The Incidence of Childhood Gonadoblastoma Over 15 Years in the Republic of Ireland

O'Connell Susan M , Lynch Sally-Ann , Coyle David , McDermott Michael , O'Sullivan Maureen , Roche Edna , Quinn Feargal , Cody Declan

Background: Gonadoblastoma is a rare tumour of the gonads presenting in childhood or adolescence. It is a lesion composed of a mixture of germ cells at different stages of maturation, with low malignant potential. It is associated with disorders of sex development (DSD), most commonly Turner mosaic syndrome with Y chromosome material (TMSY), and 46XY gonadal dysgenesis (GD). Little is known about the natural history and incidence of this rare tumour.Obje...

hrp0082p3-d3-658 | Autoimmune Endocrine Disease | ESPE2014

Increasing Testicular Size due to Bilateral Large Cell Calcifying Sertoli Cell Tumours in a Peri-Pubertal Child with Carney Complex

Geoghegan Sarah , Morrissey Rose , Moore Michael , O'Sullivan M , Murphy Michelle , Irvine Alan , O'Riordan Stephen , Quinn Fergal , O'Connell Susan

Background: Carney complex (CNC) is a rare multi endocrine neoplasia syndrome associated with endocrine and non-endocrine tumours. Three types of testicular tumour have been described; large cell calcifying Sertoli tumours (LCCST), Leydig cell tumours and testicular tumours of adrenal origin. LCCST is a rare benign stromal tumour, which has been observed in 41% of males affected with CNC, usually appearing in the first decade of life. It can be hormonally active, presenting wi...

hrp0089p2-p106 | Diabetes & Insulin P2 | ESPE2018

Congenital Hyperinsulinism: Clinical and Molecular Characteristics – Fluorine-18-L-Dihydroxyphenylalanine Positron Emission Tomography (F-DOPA PET) Scan Results – Treatment Responses and Short Term Outcomes of 5 Patients

Turan Hande , Dagdeviren Cakir Aydilek , Cayir Atilla , De Franco Elisa , Ellard Sian , Sonmezoglu Kerim , Ercan Oya , Olcay Evliyaoglu Saadet

Aim: The most common cause of persistent hypoglycemia and related brain damage in infancy is congenital hyperinsulinism (CHI), due to inappropriate secretion of insülin by pancreatic βcells. The most frequent and most serious mutations are activating mutations in ABBC8 or KCNJ11 genes. Genetic analyses, which might predict the type of lesion, performed in early period and 18f dopa pet scanning are very valuable for treatment choice and follow-up of the patients. In t...