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...

hrp0086p2-p75 | Adrenal P2 | ESPE2016

Clinical Management in Secondary Pseudohypoaldosteronısm: A Case Series

Korkut Sabriye , Akin Leyla , Hatipoglu Nihal , Gunduz Zubeyde , Dursun Ismail , Ozdemir Ahmet , Kurtoglu Selim

Background: Secondary PHA is a transient aldosterone resistance condition mostly occurring in relation with urinary system infection and/or malformations. Secondary PHA cases and very few case series have been reported in the literature. In this article, we reported a case series of eight patients including different clinic presentations which have not as yet been reported in the literatüre and their long-term follow-ups.Method: Patients who have se...

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...

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-d3-686 | Bone (2) | ESPE2014

Bone Health in a Cohort of Irish Spinal Muscular Atrophy Patients

Mc Sweeney Niamh , Mc Kenna Malachi , Webb David , van der Kamp Susan , Kilbane Mark , O' Keane Myra , Lynch Bryan

Background: Spinal Muscular Atrophy (SMA) is characterised by progressive muscle weakness, resulting from loss of anterior horn cells in the spinal cord and the brain stem nuclei. Survival motor neuron levels (SMN) are reduced due to mutations in the SMN1 gene. SMN function has been implicated in poor bone health. SMA is classified according to age of onset and clinical course accordingly: type 0 (prenatal), type 1 (onset <6 months, severe, never sit unsupported), type 2 (...

hrp0082p2-d3-309 | Bone (2) | ESPE2014

Risedronate Use in Duchenne Muscular Dystrophy: a Pilot Randomised Control Trial

Mc Sweeney Niamh , Mc Kenna Malachi , van der Kamp Susan , Kilbane Mark , Mc Donnell Ciara , Murphy Nuala , Webb David , Lynch Bryan

Background: Boys affected with Duchenne Muscular Dystrophy (DMD) have lower bone mineral density compared with unaffected boys.Objective and hypotheses: We sought to determine the effects on bone mineral density (BMD) of 1 year treatment with Risedronate and calcium/vitamin D supplementation vs calcium/vitamin D supplementation alone.Method: BMD was measured at spine and whole body. We obtained early morning fasting blood samples f...

hrp0089p1-p077 | Diabetes &amp; Insulin P1 | ESPE2018

Additional Insulin is Necessary to Prevent Rise in Blood Glucose after Fat-protein-rich Meals in Type 1 Diabetes

Schweizer Roland , Herrlich Susann , Losch-Binder Martina , Glokler Michaela , Heimgartner Magdalena , Liebrich Franziska , Meszner Katja , Muckenhaupt Tina , Schneider Angelika , Ziegler Julian , Neu Andreas

Background: High amounts of protein in meals increase blood glucose in patients with type 1 diabetes. Fat delays the increase of blood glucose. Till now we do not know the amount of insulin necessary to prevent the increase of blood glucose after a fat and protein rich meal (FPRM).Aim: To find the Insulin dosage to normalize glucose level after a FPRM.Patients: Sixteen patients with type 1 diabetes (mean±SD; Age 19.7±2.7 ...

hrp0089p3-p304 | Pituitary, Neuroendocrinology and Puberty P3 | ESPE2018

A 2-Year-Old Boy with Epiphysis Tumor and Precocious Puberty

Osokina Irina

Epiphysis inhibits formation and secretion of the most pituitary hormones and at the first turn gonadotropins. Frequency of epiphysis tumors, pinealomas in children is 2.5% of all verified tumors of brain. 75% of epiphysis tumors are malignant. Endocrinological disturbances can be the first signs of pinealoma. In 10% cases there is precocious puberty syndrome. A 2.5 year-old boy presented to the endocrinology department with an 16-month history of accelerated physical developm...

hrp0084p3-1230 | Thyroid | ESPE2015

The Role of Thyroid Fine-Needle Aspiration Cytology in the Treatment and Follow-Up of Thyroid Nodules in the Paediatric Population

Genens Mikayir , Yilmaz Cansu , Ozluk Yasemin , Erol Oguz Bulent , Abali Zehra Yavas , Poyrazoglu Sukran , Bas Firdevs , Bundak Ruveyde , Firat Pinar , Bayhan Dilek Yilmaz , Darendeliler Feyza

Background: Although thyroid nodules are rare in children compared to adults, the risk of malignacy is higher. Thyroid fine-needle aspiration (FNA) is a reliable diagnostic method used in the prediction of malignancy in the evaluation of thyroid nodules together with clinical and ultrasonographic findings.Objective and hypotheses: To compare clinical, ultrasonographic, cytological and histopathological findings in patients who underwent FNA.<p class=...

hrp0092p3-177 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Endocrine and Mammary Disorders in Girl with Cornelia De Lange Syndrome (Case History)

Gumeniuk Olga , Chernenkov Yurii , Petrova Ekaterina , Leonovich Anastasiia

Cornelia de Lange syndrome is a genetic disorder with physical, cognitive, somatic and endocrine disorders. Objective. To study endocrine and mammary disorders in girl with Cornelia de Lange syndrome. Objective and hypotheses: We describe a clinical case of Cornelia de Lange syndrome in girl, 10 y.o.Method: Total examination (includingmammological and gynecological examination), hormonal analysis, thyroid, mammological and gynecological ...