hrp0097p1-177 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

The consistency between Assigned Gender and Individual Gender Identity in Disorder of Sex Development Cases: Long-Term Results from a Single Center

Jalilova Arzu , Özen Samim , Yuluğ Taş Begüm , Kızılay Özalp Deniz , Ece Solmaz Aslı , Gül Balkı Hanife , Tekin Ali , Arslan Emrullah , Atik Tahir , Gülpınar Kübra , Çoğulu Özgür , Ünal Kocabaş Gökçen , Özbaran Burcu , Onay Hüseyin , Ulman İbrahim , Özkınay Ferda , Saygılı Füsun , Gökşen Damla , Darcan Şükran

Introduction: In cases of disorder of sex development (DSD), the change between the gender assigned at birth and the individual's chosen gender identity can occur especially after puberty.Aim: was to determine the relationship between genetic sex, gender assigned at birth and gender identity, and the importance of molecular diagnosis.Method:154patients older than 14years of ag...

hrp0084fc3.4 | Diabetes | ESPE2015

Wolfram Syndrome: Natural History and Genotype–Phenotype Correlation Based on EURO-WABB Registry Show Gender Differences in Disease Severity

Dias Renuka , Richens Caitlin , Astuti Dewi , Nightingale Peter , Ayme Segolene , Heredia Miguel Lopez de , Nunes Virginia , Maffei Pietro , McCafferty Susan , Młynarski Wojciech , Parkinson Kay , Paquis-Flucklinger Veronique , Rohayem Julia , Sinnott Richard , Tillmann Vallo , Tranebjaerg Lisbeth , Barrett Timothy

Background: Wolfram syndrome (WS) is a rare autosomal recessive disorder, characterised by early-onset diabetes and optic atrophy. It is caused by mutations in WFS1.Objective and hypotheses: This study aimed to comprehensively review the natural history of WS in a large cohort of patients from the EURO-WABB registry.Method: Data from EURO-WABB patients with WS was analysed in conjunction with the Leiden Open Variation Data...

hrp0092s10.3 | Brain development and sex: Is it Chromosomes or Hormones? | ESPE2019

How Hormones Impact on Emotion and Cognition – New Insights From Magnetic Resonance Imaging

Müller Sven C

Magnetic resonance imaging (MRI) of the brain in disorders of sexual development (DSD) is still relatively scarce despite the opportunities it offers for understanding the influence of sex hormones on emotion and cognition. In this talk I will give an update on current structural and functional MRI research in different DSDs such as Klinefelter syndrome, Turner syndrome, Congenital Adrenal Hyperplasia, or Familial Male Precocious Puberty. Finally, parallels will be drawn to cu...

hrp0092ern1.1 | (1) | ESPE2019

Life Long Management of Childhood Craniopharyngioma

Müller Hermann L.

Craniopharyngiomas (CP) are rare, partly cystic and calcified embryonic malformations of the sellar/parasellar region with low histological grade (WHO Io). A bimodal age distribution has been shown, with peak incidence rates in childhood-onset at 5–14 yr and adult-onset CP at 50–74 yr. Clinical manifestations are related to hypothalamic/pituitary deficiencies, visual impairment, and increased intracranial pressure. Recent insight in molecular pathogenesis of CP opens...

hrp0094p1-43 | Sex Endocrinology and Gonads A | ESPE2021

Broad range of phenotypes in an international cohort of 75 DSD individuals with SF-1/NR5A1 variants

Kouri Chrysanthi , Sommer Grit , Ahmed Faisal , Balsamo Antonio , Baronio Federico , Bryce Jillian , Camats Nuria , Cetinkaya Semra , van der Grinten Hedi L Claahsen , Cools Martine , Darendeliler Fatma Feyza , Davies Justin H , Fabbri-Scallet Helena , Globa Evgenia , Guerra-Junior Gil , Guran Tulay , Hannema Sabine , Hiort Olaf , Janner Marco , Kalinchenko Natalia , Lachlan Katherine , Kolesinska Zofia , l’Allemand Dagmar , Lang-Muritano Mariarosaria , Lucas-Herald Angela , Martin Idoia Martinez de Lapiscina , Mazen Inas , Moenig Isabel , Muhrer Julia , Niedziela Marek , Nordenstrom Anna , Orman Burce , Poyrazoglu Sukran , Tack Lloyd , Tadokoro-Cuccaro Rieko , Wasniewska Malgorzata , Yavas Zehra , Zelinska Nataliya , Fluck Christa E ,

Background: Steroidogenic Factor 1 (NR5A1/SF-1) is essential for the development and function of human sex and steroid organs. Variants of SF-1 lead to a broad spectrum of phenotypes including adrenal insufficiency and differences of sex development (DSD), but data on the whole picture of phenotypes in individuals with SF-1 variants are currently lacking. We aim to investigate the phenotype of individuals with SF-1 variants in a large interna...

hrp0086p1-p112 | Bone & Mineral Metabolism P1 | ESPE2016

Bone Health and Body Composition in Childhood Onset Growth Hormone Deficiency at Time of Initial Evaluation and Retesting

Ahmid M , Shepherd S , McMillan M , Ahmed S F , Shaikh M G

Background: Childhood onset growth hormone deficiency (CO-GHD) may contribute to low bone mass and alterations of body composition. However, the mechanisms by which CO-GHD effects bone health are not yet clearly defined.Objective and hypotheses: To evaluate musculoskeletal health in CO-GHD subjects at initial evaluation and retesting after final height.Method: A cross-sectional study of assessing bone health and body composition by...

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...

hrp0082p3-d1-632 | Adrenals & HP Axis | ESPE2014

Secondary Pseudohypoaldosteronism Type 1: the Role of a Urinary Steroid Profile

Grace M L , Murray D M , Joyce C , Taylor N F , Ghataore L , O'Connell S M

Background: Secondary pseudohypoaldosteronism (PHA) type 1 is an uncommon salt losing condition of infancy caused by transient resistance of the mineralocorticoid receptors (MR) of the renal tubule to aldosterone. This can be secondary to urinary tract infection (UTI), urinary tract malformation (UTM) or obstructive uropathy. Ninety percent of reported cases present before 3 months and nearly all are under 7 months of age.Objective and hypotheses: The co...

hrp0082p3-d3-748 | Diabetes (4) | ESPE2014

Monogenic Diabetes in a Paediatric Population: Finding the Needle in the Haystack

Mavinkurve M , Johnston N , Carroll A , Donnell C Mc , Byrne M M , Murphy N P

Background: Ireland has a high incidence of type 1 diabetes in childhood (16.8/100, 000 per year (1). A small percentage of children with diabetes have maturity onset diabetes of the young (MODY) (2). Establishing the correct diagnosis is critical to optimal therapy and future genetic counselling (3).Objective and hypothesis: To review the cohort of children attending our tertiary diabetes service and describe the clinical features of those where MODY wa...

hrp0094fc8.3 | Neuroendocrinology | ESPE2021

A novel clinical risk score that can accurately predict recurrence of craniopharyngioma - a multicentre cohort study

Kyprianou Nikolina , Blackburn James , Tan Rachael , Bulfamante Gaetano , Massa Valentina , Roncaroli Federico , Ribalta Teresa , Evanson Jane , Korbonits Marta , Dattani Mehul , Rai Ashutosh , Gupta Prakamya , Dutta Pinaki , Bhansali Anil , Salunke Pravin , Pani Danda , Skoric Tanja , Kastelan Darko , Gnanalingham Kanna , Mitchell Rod , Bulfamante Antonio , Argente Jesus , Goycoolea Nicolas , Torales Jorge , Biagetti Betina , Audi Laura , Resmini Eugenia , Webb Susan , Kapoor Ritika , Chandler Christopher , Zebian Bassel , Thomas Nick , Sampron Nicolas , Paraskevopoulos Dimitrios , Preda Cristina , Ahmad Amar , Pease Gevers Evelien F , Gaston-Massuet Carles ,

Background: Recurrence of craniopharyngiomas influences mortality. Apart from the extent of surgical resection, few clinical parameters have been consistently shown to be associated with recurrence. Radical resection is difficult due to infiltration of surrounding tissue and unacceptable morbidity. Predictors of recurrence are therefore needed.Aim: To establish a multinational cohort of patients with craniopharyngioma an...