Searchable abstracts of presentations at key conferences in endocrinology

ea0049ep1090 | Clinical case reports - Thyroid/Others | ECE2017

A rare cause of a 46, XY disorder of sex development diagnosed in an adult patient

Feller Katrin , Fluck Christa , Audi Laura , Fernandez-Cancio Monica , Stettler Christoph

The defective conversion of testosterone to dihydrotestosterone due to a steroid 5-alpha-reductase 2 deficiency results in a unique form of 46, XY disorder of sexual development (DSD). Dihydrotestosterone is essential for the embryonic differentiation of the external male genitalia and the prostate. Steroid 5-alpha-reductase 2 deficiency is an autosomal recessive disorder in which genetic males have a predominantly female phenotype with female external genitalia but male inter...

ea0016s20.3 | Translational highlights | ECE2008

Monoallelic mutations in DUOXA2 are associated with mild permanent hypothyroidism and goiter

Ventura Paula , Azcona Cristina , Clemente Maria , Albisu Marian , Audi Laura , Carrascosa Antonio , Visser Theo , Moreno Jose C

Generation of H2O2 at the apical membrane of thyroid cells is essential for iodination of thyroglobulin. Dual oxidase 2 (DUOX2) is the catalytic core of the thyroidal H2O2 generator, and its deficiency leads to congenital hypothyroidism (CH) in humans and mice. The Dual oxidase maturation factor 2 (DUOXA2) is a recently identified endoplasmic reticulum (ER)-resident protein required for expression of DUOX2 activity.<p class="abst...

ea0042oc4 | (1) | Androgens2016

The use of apolipoprotein D as a biomarker for androgen sensitivity identifies a new type of androgen insensitivity syndrome that is not associated with a mutation in the androgen receptor gene

Hornig Nadine C , Ukat Martine , Schweikert Hans-Udo , Hiort Olaf , Werner Ralf , Drop Stenvert LS , Cools Martine , Hughes Ieuan A , Audi Laura , Ahmed S Faisal , Demiri Jeta , Rodens Pascal , Worch Lisa , Wehner Gaby , Kulle Alexandra E , Dunstheimer Desiree , Muller-Roszberg Elke , Reinehr Thomas , Hadidi Ahmed T , Eckstein Anne K , van der Horst Christof , Seif Christoph , Siebert Reiner , Ammerpohl Ole , Holterhus Paul-Martin

Although androgen insensitivity syndrome (AIS) is commonly suspected as a cause of a 46,XY disorder of sex development (DSD), only about half of these cases can be attributed to an inactivating mutation within the coding sequence (CDS) of the androgen receptor (AR) gene. This led to the hypothesis that disrupted AR activation in AIS may also be caused by a defect in a co-factor of AR-activity. However, so far mutations in AR co-factors leading to AIS have not been ide...

ea0031p148 | Growth and development | SFEBES2013

The spectrum of associated congenital anomalies in disorders of sex development: a review of the I-DSD Registry

Cox Kathryn , Bryce Jillian , Jiang Jipu , Rodie Martina , Sinnott Richard , Alkhawari Mona , Arlt Wiebke , Audi Laura , Balsamo Antonio , Bertelloni Silvano , Cools Martine , Darendeliler Feyza , Drop Stenvert , Ellaithi Mona , Hiort Olaf , Hughes Ieuan , Lisa Lidka , Morel Yves , Soder Olle , Ahmed S Faisal

Background: Improved knowledge of the range of anomalies encountered in DSD may improve our understanding of the underlying aetiology. However, given the rarity of these conditions, thorough analysis of congenital anomalies in DSD has not previously been possible.Aims: To discover the frequency of congenital anomalies in DSD, and to identify patterns of anomalies within specific conditions.Methods: 1050 registered cases on The I-DS...

ea0066oc4.4 | Oral Communications 4 | BSPED2019

A novel clinical risk score that accurately predicts recurrence of craniopharyngioma – a multicentre cohort study

Kyprianou Nikolina , Blackburn James , Tan Rachael , Korbonits Marta , Dattani Mehul , Dutta Pinaki , Bhansali Anil , Rai Ashutosh , Ribalta Teresa , Bulfamante Gaetano Pietro , Massa Valentina , Roncaroli Federico , Evanson Jane , Skoric Tanja , Kastelan Darko , Gnanalingham Kanna , Mitchell Rod , Bulfamante Antonio Mario , Argente Jesus , Goycoolea Andres , Torales Jorge , Biagetti Betina , Audi Laura , Resmini Eugenia , Webb Susan M , Kapoor Ritika R , Chandler Christopher , Sampron Nicolas , Preda Cristina , Ahmad Amar , Gevers Evelien F Pease , Gaston-Massuet Carles

Introduction: Craniopharyngiomas (CPs) are histologically benign tumours but are clinically associated with significant morbidity and mortality. Recurrence of CPs is known to influence mortality, but apart from the extent of surgical resection, no clinical characteristics have been shown to predict recurrence. Complete resection is difficult due to their infiltrative behaviour and unacceptable morbidity. Thus, predictors of risk of recurrence are needed....