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hrp0094p1-150 | Sex Endocrinology and Gonads B | ESPE2021

Androgen insensitivity without an androgen receptor mutation: results from a large cohort study

Hornig Nadine , Kulle Alexandra , Dombrowsky Gregor , Ammerpohl Ole , Caliebe Almuth , Schweikert Hans-Udo , Audi Laura , Cools Martin , Hannema Sabine , Stuart Annemarie Verrijn , Werner Ralf , Hiort Olaf , Holterhus Paul-Martin ,

Introduction: Androgen insensitivity syndrome (AIS) is a 46,XY difference of sex development (DSD) classically caused by mutations in the X-chromosomal androgen receptor (AR) gene. Nevertheless, in over 50% of individuals with clinical AIS no AR coding gene mutation can be found. We previously established an assay (apolipoprotein D (APOD) assay) that measures androgen dependent AR-activity in genital skin fibroblasts (GFs). Using this assay we identified a gro...

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hrp0084p1-58 | DSD | ESPE2015

Long-term Endocrine Outcome in Men with Partial Androgen Insensitivity Syndrome

Lucas-Herald Angela K , Ahmed S Faisal , Bertelloni Silvano , Juul Anders , Bryce Jillian , Jiang Jipu , Rodie Martina , Johansen Marie L , Hiort Olaf , Holterhus Paul-Martin , Cools Martine , Desloovere An , Weintrob Naomi , Hannema Sabine E , Guran Tulay , Darendeliler Feyzad , Nordenstrom Anna , Hughes Ieuan

Background: Partial Androgen insensitivity syndrome (PAIS) is a rare condition which is associated with a variable phenotype. To date, there are limited data reporting long-term endocrine outcome for this condition.Aims: To determine the outcomes and clinical characteristics for 46, XY males with PAIS, using information from the International DSD (I-DSD) Registry and its clinical users.Methods: The I-DSD Registry and its users were...

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ESPE Abstracts

Androgen insensitivity without an androgen receptor mutation: results from a large cohort study

Long-term Endocrine Outcome in Men with Partial Androgen Insensitivity Syndrome

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