Searchable abstracts of presentations at key conferences in endocrinology

ea0077p111 | Reproductive Endocrinology | SFEBES2021

An investigation of androgen-responsive non-coding RNAs in boys with atypical genitalia without genetic variants in the androgen receptor (AR)

Alimussina Malika , McMillan Martin , Chudleigh Sandra , McNeilly Jane D , Diver Louise A , McGowan Ruth , Tobias Edward S , Faisal Ahmed S

Introduction: Transcriptome analysis of peripheral blood mononuclear cells (PBMC) RNA has identified a set of androgen-responsive non-coding RNAs.Aim: To quantify the androgen-responsive gene expression and investigate its relationship to the testosterone (T) rise following hCG stimulation in boys with no genetic evidence of androgen insensitivity.Methods: Boys with suspected DSD who were evaluated at the Royal Hospital for Childre...

ea0078OC5.3 | Oral Communications 5 | BSPED2021

An investigation of androgen-responsive non-coding RNAs in boys with atypical genitalia without genetic variants in the androgen receptor (AR)

Alimussina Malika , McMillan Martin , Chudleigh Sandra , McNeilly Jane D , Diver Louise A , McGowan Ruth , Tobias Edward S , Ahmed S Faisal

Introduction: Transcriptome analysis of peripheral blood mononuclear cells (PBMC) RNA has identified a set of androgen-responsive non-coding RNAs.Aim: To quantify the androgen-responsive gene expression and investigate its relationship to the testosterone (T) rise following hCG stimulation in boys with no genetic evidence of androgen insensitivity. Methods: Boys with suspected DSD who were evaluated at the Royal Hospital for Childr...

ea0045oc5.8 | Oral Communications 5- Endocrine | BSPED2016

Understanding the Utility of Performing Endocrine & Genetic Investigations in Boys with a Suspected Disorder of Sex Development

Nixon Rachael , Cerqueira Vera , Kyriakou Andreas , Lucas-Herald Angela , McNeilly Jane , Diver Louise , Clelland Sharleene , Baird William , McMillan Martin , Purvis Andrew , Tobias Edward , McGowan Ruth , Ahmed Syed Faisal

Introduction: Evaluation of XY DSD requires a combination of endocrine and genetic tests. It is unclear whether these two sets of investigations should be performed stepwise or in parallel.Aims: The aim of the study was to document the range of endocrine and genetic abnormalities identified in all XY boys who were investigated at one specialist multidisciplinary service.Methods: Case records were reviewed to collect information fro...