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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...

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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...

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Endocrine Abstracts

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

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

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