hrp0082s4.1 | Recent Advances in Our Understanding of Hypothyroidism | ESPE2014

Management of Central Hypothyroidism

van Trotsenburg P

Central hypothyroidism (CeH) can be defined as a lower than desirable secretion of thyroid hormone by a normal thyroid gland resulting from (quantitative or qualitative) insufficient TSH secretion. Causes are congenital and acquired functional or anatomic defects of the hypothalamus, pituitary gland or both. CeH can be difficult to diagnose, especially in children without a history of brain defects or brain damaging treatment (e.g. irradiation), and when plasma FT4 concentrati...

hrp0082wg6.4 | Turner | ESPE2014

Motor Performance in Turner Syndrome

van Alfen Janielle

The aim of this presentation is to give an overview of motor disabilities in girls with Turner syndrome (TS), the impact on daily life and suggestions for treatment.Girls with TS show substantially lower performance in gross and fine motor function tests and motor milestones are achieved relatively late. Moreover, girls with TS frequently encounter problems in specific motor functioning i.e. oral-motor and visual-motor coordination, motor learning and pr...

hrp0095fc6.3 | Sex Development and Gonads | ESPE2022

Gonadal morphology in 46,XY gonadal dysgenesis: I-DSD Registry-based study

Tadokoro-Cuccaro Rieko , Hughes Ieuan , Cools Martine , van de Vijver Koen , Bilharinho de Mendonça Berenice , Domenice Sorahia , L Batista Rafael , Thomazini Dallago Renata , Lisboa Gomes Nathalia , Costa Elaine F. , Maciel-Guerra Andréa T. , Guerra-Junior Gil , Gabriel Ribeiro de Andrade Juliana , Lucas-Herald Angela , Bryce Jillian , Hannema Sabine , Juul Anders , Globa Eugenia , MсElreavey Kenneth , Baronio Federico , Lopez Dacal Jimena , Darendeliler Feyza , Poyrazoglu Sukran , Kolesińska Zofia , Niedziela Marek , Claahsen – van der Grinten Hedi L. , van den Akke Erica L.T. , Herrmann Gloria , Atapattu Navoda , Jain Vandana , Sharma Rajni , Bettendorf Markus , Konrad Daniel , Martin Holterhus Paul , Fica Simona , Skae Mars , Russo Gianni , Rita Stancampiano Marianna , Gazdagh Gabriella , H Davies Justin , Mohamed Zainaba , Nimali Seneviratne Sumudu , Guran Tulay , GÜVEN Ayla , Wasniewska Malgorzata , Mladenov Vilhelm , Verkauskas Gilvydas , Markosyan Renata , Korbonits Marta , Faisal Ahmed S , Hiort Olaf , Wagner Isabel , Thankamony Ajay

Background/Aims: 46,XY gonadal dysgenesis (GD) is classified as complete (CGD) or partial (PGD) depending on gonadal morphology and function. In contrast to the typical female external genitalia in CGD, the phenotype of PGD is variable depending on androgen production. A diagnosis of PGD is based on clinical/biochemical features, gonadal histology and genetic findings. The aim of this study is to characterise these features, particularly histological, in a lar...

hrp0084p3-1017 | Growth | ESPE2015

The Growth Characteristics of Patients with Noonan Syndrome, and First 2 Years Results of GH Treatment: A Nationwide Multicentre Study

Siklar Zeynep , Berberoglu Merih , Genens Mikayir , Poyrazoglu Sukran , Bas Firdevs , Darendeliler Feyza , Bundak Ruveyde , Aycan Zehra , Erdeve Senay Savas , Cetinkaya Semra , Abali Saygin , Atay Zeynep , Turan Serap , Kara Cengiz , Yilmaz Gulay Can , Akyurek Nesibe , Abaci Ayhan , Sari Erkan , Yesilkaya Ediz , Bolu Semih , Korkmaz Huseyin Anil , Simsek Enver , Catli Gonul , Cayir Atilla , Evliyaglu Olcay , Isguven Sukriye Pinar

Introduction: Short stature is a common manifestation of Noonan syndrome (NS). GH deficiency, GH insensitivity, and neurosecretory dysfunction have been reported in the literature. The optimal GH treatment for NS is still controversial. In this study, we aimed to evaluate the growth characteristics in addition to clinical features of NS, and the growth response to GH treatment by using a nationwide registration system.Material and methods: Children and a...

hrp0094p2-315 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Characteristics of Patients with Noonan Syndrome Carrying a PTPN11 Mutation: The Recombinant Growth Hormone Treatment and Long-Term Follow-up

Karacan Kucukali Gulin , Okur Iclal , Erdeve Senay Savas , Muratoglu Sahin Nursel , Keskin Meliksah , Cetinkaya Semra ,

Introduction: Noonan Syndrome (NS) is a heterogeneous group of diseases with a genetic etiology affecting the RAS/MAPK signaling pathway known as RASopathy. Genes known to cause NS are PTPN11, KRAS, SOS1, RAF1, BRAF, SHOC2 and RIT1. There are sufficient studies indicating that recombinant growth hormone (rhGH) therapy can be given without increasing risk of developing cancer in NS cases with PTPN11 mutations from different centers. In this study, it was aimed ...

hrp0089p1-p232 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

Gonadectomy for Adults with DSD Conditions in the International Disorders of Sex Development Registry

Lucas-Herald Angela K , Kyriakou Andreas , Bryce Jillian , Rodie Martina , Acerini Carlo , Arlt Wiebke , Balsamo Antonio , Baronico Federico , Bertelloni Silvano , Brooke Antonia , Claahsen van der Grinten Hedi , Cools Martine , Darendeliler Feyza , Davies Justin H , Desloovere An , Ellaithi Mona , Fica Simona , Gawlik Aneta , Guran Tulay , Hannema Sabine , Hiort Olaf , Holterhus Paul-Martin , Iotova Violeta , Jennane Farida , Lachlan Katherine , Li Dejun , Lisa Lidka , Mazen Inas , Mladenov Wilchelm , Mohnike Klaus , Nedelea Lavinia , Niedziela Marek , Nordenstrom Anna , Poyrazoglu Sukran , Rey Rodolfo , Tadokoro-Cuccaro Rieko , Weintrob Naomi , Faisal Ahmed Syed

Introduction: Depending on the underlying diagnosis, Disorders of Sex Development (DSD) can be associated with an increased risk of germ cell cancers. To date, however, knowledge regarding the indications and timing of gonadectomy is lacking.Methods: The International-DSD (I-DSD) Registry was interrogated for anonymised information regarding the diagnosis, karyotype, sex of rearing and timing of gonadectomy, if undertaken, of all individuals of any karyo...

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...

hrp0094p1-143 | Sex Endocrinology and Gonads B | ESPE2021

Current clinical practice of prenatal dexamethasone treatment in at risk pregnancies for classic 21 hydroxylase deficiency in Europe

Nowotny Hanna F. , Neumann Uta , Tardy-Guidollet Veronique , Ahmed S. Faisal , Baronio Federico , Battelino Tadej , Bertherat Jerome , Blankenstein Oliver , Bonomi Marco , Bouvattier Claire , de la Perriere Aude Brac , Brucker Sara , Cappa Marco , Chanson Philippe , Grinten Hedi L. Claahsen van der , Colao Annamaria , Cools Martine , Davies Justin H. , Gunther Dorr Helmut , Fenske Wiebke K. , Ghigo Ezio , Gravholt Claus H. , Huebner Angela , Husebye Eystein Sverre , Igbokwe Rebecca , Juul Anders , Kiefer Florian W. , Leger Juliane , Menassa Rita , Meyer Gesine , Neocleous Vassos , Phylactou Leonidas A , Rohayem Julia , Russo Gianni , Scaroni Carla , Touraine Philippe , Unger Nicole , Vojtkova Jarmila , Yeste Diego , Lajic Svetlana , Reisch Nicole ,

Background: Prenatal dexamethasone treatment (Pdex) has been used since the 1980s to prevent virilization in female offspring suspected to have congenital adrenal hyperplasia (CAH). However, due to lack of strong evidence for its best practice as well as limited data regarding long term adverse effects, use of dex is highly controversial. This study reveals the current medical practice regarding Pdex in female fetuses at risk of CAH due to 21 hydroxylase defic...

hrp0095p2-261 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

VSD genetic diagnosis exploiting single-cell expression data and deep learning

von der Decken Isabel , Azimi Hamid , Lauber-Biason Anna

The majority of patients with Variations of Sex Development (VSD) lack a genetic diagnosis. Patients that are born with atypical chromosomal, gonadal, or phenotypical sex, present a wide spectrum of phenotypes that are often associated with ambiguous genitalia, infertility as well as increased susceptibility to testicular or ovarian cancer. Many different genetic causes of VSD have been reported [2], but for more than 50% [3] of all VSD patients, the molecular cause of their c...