Searchable abstracts of presentations at key conferences in endocrinology

ea0059cc1 | Featured Clinical Cases | SFEBES2018

Pitfalls in the diagnosis of an infant with 46,XX DSD with Congenital Adrenal Hyperplasia due to Cytochrome P450 Oxidoreductase deficiency - the value of simultaneous genetic analysis to the diagnosis in DSD

Idkowiak Jan , Mohamed Zainaba , Allen Stephanie , Chandran Harish , McCarthy Liam , Kirk Jeremy , Cole Trevor , Krone Nils

Background: Congenital adrenal hyperplasia (CAH) is the underlying diagnosis in most newborns presenting with 46,XX disorders of sex development (DSD). Cytochrome P450 oxidoreductase deficiency (PORD) is a rare form of CAH caused by inactivating mutations in the POR gene. The hallmark feature of PORD is combined sex-steroid and glucocorticoid deficiency due to impairment of CYP17A1 and CYP21A2. Skeletal malformations resembling the Antley-Bixler Syndrome phenotype are common i...

ea0033p48 | (1) | BSPED2013

Development of a next generation sequencing panel for disorders of sex development (DSDs)

Hughes Lowri , Cole Trevor , Krone Nils , Allen Stephanie , Fews Graham , MacDonald Fiona

Disorders of sex development (DSDs) refer to a range of congenital disorders where the chromosomal, gonadal or anatomical sex is atypical. Patients typically present in the newborn period where ambiguous genitalia often prevents immediate gender assignment or during the adolescent period where atypical sexual development becomes apparent. Genetic testing is key in establishing the diagnosis allowing for personalised management of these patients, and can significantly reduce th...

ea0059p184 | Reproduction | SFEBES2018

Where Are They Now? Review of patients diagnosed with Disorders of Sex Development since 1988

Kanani Hina , Bagheri Kimiya , Fews Graham , Allen Stephanie , Idkowiak Jan , Kirk Jeremy , Krone Nils P , Latthe Pallavi , Mohamed Zainaba , Cole Trevor , Gleeson Helena

Background: As diagnostic workup and management of patients with Disorders of Sex Development (DSD) evolves, access to the latest advances should continue.Aims: To explore whether DSD patients in the West Midlands Region (WMR) remain under follow up, having optimal diagnostic workup and management.Method: An unselected cohort of 48 patients with discrepant phenotypic gender and sex chromosomes in the WMR were identified from the re...

ea0073pep4.8 | Presented ePosters 4: Reproductive and Developmental Endocrinology | ECE2021

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

Nowotny Hanna F. , Blankenstein Oliver , Neumann Uta , Ahmed S. Faisal , Allen Stephanie , Baronio Federico , Battelino Tadej , Bertherat Jérôme , Bonomi Marco , de la Perrière Aude Brac , Tardy Véronique , Brucker Sara , Cappa Marco , Chanson Philippe , Bouvattier Claire , Colao Annamaria , Cools Martine , Davies Justin , Fenske Wiebke K. , Ghigo Ezio , Højbjerg Gravholt Claus , Hübner Angela , Husebye Eystein Sverre , Juul Anders , Kiefer Florian W. , Léger Juliane , Meyer Gesine , Phylactou Leonidas A. , Rohayem Julia , Russo Gianni , Scaroni Carla , Touraine Philippe , Unger Nicole , Hedi L. Claahsen-van der Grinten , Vojtková Jarmila , Yeste Diego , Günther Dörr Helmut , Lajic Svetlana , Reisch Nicole

BackgroundPrenatal 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 longterm 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 21hydroxylase def...