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hrp0089p2-p342 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

In-silico Gene-protein Analysis and Clinical Phenotype Characterisation of Three Novel NR5A1/SF1 Gene Mutations Presenting with 46,XY DSD

Cuccaro Rieko Tadokoro , Thankamony Ajay , Hendriks A Emile J , Alvi Sabah , Armstrong Ruth , Bruty Jonathan , A Hughes Ieuan , L Acerini Carlo

Background: Disorders of sex development (DSD) due to mutations in the NR5A1 (SF1) gene result in a highly variable phenotype.Objective: To report the clinical phenotype and the molecular/structural characteristics of the gene-protein product arising from three novel mutations of the NR5A1 (SF1) gene found in patients presenting with 46,XY DSD.Method: Phenotype determined from interrogation of clinical case notes. Interpre...

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hrp0086p1-p352 | Gonads & DSD P1 | ESPE2016

A Multicenter Study on Long-Term Outcomes in 56 Males with 45,X/46,XY Mosaicism

Johansen Marie Lindhardt , Acerini Carlo , Andrade Juliana , Balsamo Antonio , Cools Martine , Cuccaro Rieko Tadokoro , Darendeliler Feyza , Fluck Christa E , Grinspon Romina , Guran Tulay , Hannema Sabine , Lucas-Herald Angela K , Hiort Olaf , Lichiardopol Corina , Ortolano Rita , Riedl Stefan , Ahmed S Faisal , Juul Anders

Background: 45,X/46,XY mosaicism is a rare karyotype with a broad phenotypic variation. In patients with a male or predominantly male phenotype, impaired genital development and statural growth have been observed, but little is known about long-term outcomes. Larger multicenter studies are needed.Objective and hypotheses: The aim of this study is to investigate long-term outcomes, namely gonadal function, growth and co-morbidities, in a larger group of m...

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ESPE Abstracts

In-silico Gene-protein Analysis and Clinical Phenotype Characterisation of Three Novel NR5A1/SF1 Gene Mutations Presenting with 46,XY DSD

A Multicenter Study on Long-Term Outcomes in 56 Males with 45,X/46,XY Mosaicism

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