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...

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...

hrp0092p3-308 | Late Breaking Abstracts | ESPE2019

Grave's Disease: What Place in the Child's Hyperthyroidism?

Merad Mohamed Samir , Mohammedi Fatiha , Benouis Amina

Background: Hyperthyroidism is a condition rarely found in children. In the majority of cases, it is a Grave's disease whose clinical expression is very similar to that observed in adults.Objective: describe the clinical, evolutionary and therapeutic epidemiological features in children with hyperthyroidism and especially Grave's disease.Materials and Methods: This is a ret...

hrp0089p2-p128 | Fat, Metabolism and Obesity P2 | ESPE2018

Leptin and Cytokines are Not the Best Markers for Metabolic S

Cuartero Beatriz Garcia , Vergaz Amparo Gonzalez , Lacalle Concepcion Garcia , Escudero Veronica Sanchez , Salado Laura Sanchez , Larramendi Carmen Hernando de

Introduction: Leptin, some cytokines and triglycéride/colesterol -HDL ratio (TG/C-HDL ratio) are markers of insulin-resistance in children and adolescents with overweight/obesity. Due to the high prevalence of this pathology it’s necessary to find and easy and better routinely marker that identify these patients in the outpatient clinic. Previous results demonstrated that TG/C-HDL ratio >2 was a better predictor of metabolic syndrome (sensitivity 100%; specificit...

hrp0094p2-391 | Pituitary, neuroendocrinology and puberty | ESPE2021

Cushing’s disease in paediatric patients: Diagnosis and evolution

Messaoudi Najoua , Assarrar Imane , Bouichrat Nisrine , Karrou Marouan , Rouf Siham , Latrech Hanane ,

Introduction: Cushing’s syndrome is rare in the paediatric population, affecting 0.89 per million children between the ages of 0 and 20 years. The causes of Cushing’s syndrome of endogenous origin are dominated by pituitary causes in 70-95%, with a peripubertal revelation. We report the case of a child followed for Cushing’s disease in the department of Endocrinology-Diabetology-Nutrition of Mohammed-VI University Hospital Center of Oujda, in th...

hrp0092p1-154 | Thyroid | ESPE2019

Association of Hashimoto's Thyroiditis with Antistreptolysin O titer

Voutetakis Antonis , Kanaka-Gantenbein Christina , Gryparis Alexandros , Dacou-Voutetakis Catherine

Background: Hashimoto's Thyroiditis (HT) is a relatively common autoimmune disorder that involves both cellular and humoral immunity, the latter characterized by the presence of antithyroid antibodies. Nevertheless, despite the large number of relevant studies, the underlying pathogenetic mechanisms still remain unclear; evidence and indications pointing to both genetic and environmental components. Genetic studies have uncovered molecular associations tha...

hrp0092p3-260 | Thyroid | ESPE2019

Hashimoto's Thyroiditis in Children: Case Series Report of Three Patients

Trong Thanh Nguyen , Vu Chi Dung , Phuong Thao Bui , Nguyen Ngoc Khanh , Thi Bich Ngoc Can , Thanh Mai Do , Nguyen Thu Ha

Hashimoto's thyroiditis (HT) is most commonly caused by autoimmune thyroid disease and rarely in children. It is characterized clinically by gradual thyroid failure, with or without goiter formation, due to autoimmune-mediated destruction of the thyroid gland involving apoptosis of thyroid epithelial cells. In fact, thyroid function at presentation may significantly vary in the different pediatric reports, ranging from euthyroidism (52.1%) to overt hypothyroidism (41.4...

hrp0094p2-41 | Adrenals and HPA Axis | ESPE2021

Corticotropin-independent Cushing’s Syndrome in toddlerhood: a challenging diagnosis and treatment

Simoes Joana , Crisostomo Mafalda , Costa Durval , Galhardo Julia , Lopes Lurdes ,

Background: Endogenous Cushing’s Syndrome (CS) is a rare disease in children, and corticotropin-independent forms are even scarcer. In childhood it carries a significant burden, resulting from both prolonged hypercortisolism long-term effects and treatment-associated morbidity.Case Report: A 23-month-old girl presented with irritability, central obesity with rapid weight gain and arrested linear growth, cushingoid facies with facial...

hrp0094p2-18 | Adrenals and HPA Axis | ESPE2021

Cushing’s disease treatment results correlation with pituitary MRI in children

Yanar Eda , Makazan Nadezhda , Kareva Maria , Vorontsov Alexandr , Vladimirova Victoria , Peterkova Valentina ,

Objective: Transsphenoidal surgery (TSS) is a treatment of choice for Cushing`s disease (CD), whose effectiveness range is from 70 to 90%. Recurrence rate after successful treatment is about 25%. Preoperative predictors of remission and recurrence are still unexplored what leads to further investigations.Aim: Analysis of remission and recurrence rates of CD after radical treatment according to preoperative MRI....