hrp0095p1-506 | Growth and Syndromes | ESPE2022

A service evaluation on the management of Noonan syndrome in the West of Scotland

Donat Guillaume , Shaikh Guftar , Kinning Esther , McGowan Ruth

Background: Noonan syndrome (NS) is a condition caused by pathogenic variants of the genes of the RAS-MAPK pathway. Its clinical manifestations are diverse and include congenital heart disease, short stature, ocular abnormalities, coagulation defects and structural renal anomalies. Our aim was to find out whether the patients with a genetic diagnosis of NS in the West of Scotland were managed according to the Management of Noonan Syndrome guidelines (DYSCERNE)...

hrp0089fc8.3 | Sex differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2018

Exomic Sequencing Uncovers Novel Genetic Associations for Deciphering Developmental Disorders (DDD) Study Participants with Hypospadias, Cardiovascular and Neurodevelopmental Abnormalities

Gazdagh Gabriella , McGowan Ruth , Ahmed Faisal , DDD Study Faisal , Tobias Edward

Background: Hypospadias is a common characteristic of Disorders of Sex Development (DSD). At the present time a molecular diagnosis is not reached in over 50% of cases. The DDD Study represents a useful resource of large molecular and phenotypic datasets obtained from individuals with an undiagnosed developmental abnormality including DSD.Objective: To review associated features and identify likely pathogenic variants in previously undiagnosed DDD partic...

hrp0082p1-d1-181 | Perinatal and Neonatal Endocrinology | ESPE2014

The Prevalence and Outcome of Sex Chromosome Abnormalities Detected Prenatally in Scotland

Lucas-Herald Angela , McGowan Ruth , Cann Fiona , Crawford Lorna , Ahmed Syed Faisal

Background: Prenatal diagnosis (PND) via amniocentesis or chorionic villus sampling may result in the identification of a sex chromosome abnormality, often as an incidental finding.Objective and hypotheses: The aims of this study were to ascertain the prevalence of sex chromosome abnormalities detected by prenatal diagnosis in Scotland and to determine the outcomes for these cases.Method: A retrospective review of all prenatal kary...

hrp0084p1-59 | DSD | ESPE2015

Novel Genetic Associations in Children with Disorders of Sex Development and Neurodevelopment Disorders – Insights from the Deciphering Developmental Disorders study

Gazdagh Gabriella , Study DDD , Tobias Edward S , Ahmed S Faisal , McGowan Ruth

Background: Collaborative project to review the phenotypic and genotypic data from children recruited to the UK wide deciphering developmental disorders (DDD) study.Objective and hypotheses: To report the frequency and range of disorders of sex development (DSD) phenotypes observed in DDD participants who have one or more associated ‘neurodevelopmental delay’ diagnostic human phenotype ontology (HPO) term.Method: Retrospe...

hrp0095fc5.2 | Adrenals and HPA Axis | ESPE2022

Thioredoxin Reductase 2 (TXNRD2) Variant As A Cause Of Micropenis, Undescended Testis And Selective Glucocorticoid Deficiency

Patjamontri Supitcha , Lucas-Herald Angela , McMillan Martin , Prasad Rathi , Metherell Louise , McGowan Ruth , Tobias Edward , Faisal Ahmed S.

Introduction: The molecular aetiology of familial glucocorticoid deficiency (FGD) is very heterogeneous. A recent report of a genetic variant in TXNRD2, the gene encoding thioredoxin reductase Type 2, in a South Asian kindred with FGD suggests that the maintenance of redox balance may be critical for adrenocortical function. We present the second report of an individual from another south Asian family harbouring a different pathological variant in <em...

hrp0095p1-370 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

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 , D McNeilly Jane , A Diver Louise , McGowan Ruth , S Tobias Edward , Faisal Ahmed S

Introduction: Recent studies point to the existence of androgen-responsive non-coding (nc) RNAs in peripheral blood mononuclear cells (PBMC) RNA.Aim: To quantify the androgen-responsive gene expression of SNORD5 and RNY5 and investigate their relationship to the testosterone (T) rise following hCG stimulation in boys with no genetic evidence of androgen insensitivity.Methods: 19 bo...

hrp0095p1-378 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Assessment Of External Genitalia Change Over Time In Boys With XY Disorder Of Sex Development (DSD)

Alimussina Malika , Kraria Loubna , McGowan Ruth , Steven Mairi , Lee Boma , Flett Martyn , O’Toole Stuart , Faisal Ahmed S

Introduction: The external masculinisation score (EMS) has been utilised as an objective numerical description of the external genitalia in undermasculinised patients with DSD in several studies. However, data on longitudinal change in EMS in the routine clinical setting are lacking.Objectives: To determine the longitudinal change in EMS and its determinants in a cohort of boys with XY DSD in one specialist centre.<p...

hrp0089p1-p233 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

Phenotypic and Genetic Assessment of Boys with a Suspected XY Disorder of Sex Development

Alimussina Malika , Diver Louise A , McNeilly Jane D , Lucas-Herald Angela K , Tobias Edward S , McGowan Ruth , Faisal Ahmed Syed

Introduction: Among Disorders of Sex Development (DSDs), XY DSD, represents the most challenging group in terms of identifying a diagnosis.Objectives: The aim of the study was to determine the prevalence of biochemical and molecular genetic tests in a cohort of boys with XY DSD and to collate the phenotypes of patients with results of laboratory investigations and presence of associated abnormalities.Methods: New and existing cases...

hrp0092rfc10.3 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Level of Uncertainty in Diagnostic Evaluation of Boys With XY Disorders of Sex Development (DSD)

Alimussina Malika , Diver Louise A , McNeilly Jane D , Lucas-Herald Angela K , Tobias Edward S , McMillan Martin , McGowan Ruth , Ahmed S Faisal

Introduction: The degree of consistency between the findings from next generation sequencing (NGS) and detailed endocrine assessment is unclear in boys with XY DSD.Objectives: Examine the range of endocrine and molecular genetic variation in boys undergoing evaluation for XYDSD.Methods: Boys with XYDSD who were evaluated in Glasgow from 2016 to 2018 were included. Sequence variants...

hrp0094p1-46 | Sex Endocrinology and Gonads A | ESPE2021

Endocrine & Molecular Genetic Findings In XY Boys Investigated For A Disorder Of Sex Development: the Glasgow Experience

Alimussina Malika , Patjamontri Supitcha , Lucas-Herald Angela K , McMillan Martin , McNeilly Jane D , Diver Louise A , Tobias Edward S , McGowan Ruth , Ahmed S Faisal ,

Introduction: Advances in diagnostic capability in the field of DSD hold great promise but need a regular review.Objectives: To study the range of endocrine and molecular genetic variation in a group of boys undergoing investigation for XY DSD.Methods: 157boys with median age of 0.9yrs (range,0,18) evaluated by the DSD Diagnostic Board in Glasgow from 2016to 2021 were included. Seq...