hrp0092p1-126 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Longitudinal Changes in External Masculinisation Scores in Boys with XY Disorder of Sex Development (DSD)

Alimussina Malika , Kraria Loubna , Ahmed S Faisal

Introduction: Although, there are several studies that use the external masculinisation score (EMS) for numerical description of the external genitalia in infants with DSD, data on 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.Methods: Ob...

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...

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...

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...

hrp0094p1-146 | Sex Endocrinology and Gonads B | ESPE2021

Reaching a definitive diagnosis of hypogonadotropic hypogonadism – experience of a multidisciplinary diagnostic service

Patjamontri Supitcha , Alimussina Malika , Diver Louise A , McMillan Martin , McNeilly Jane D , K Lucas-Herald Angela , Freel Marie , Jones Greg , Kernohan Andrew , Lindsay Robert , McGowan Neil , Perry Colin , Sastry Aparna , Shaikh M Guftar , Tobias Edward S , McGowan Ruth , Ahmed S Faisal ,

Introduction: Hypogonadotropic hypogonadism (HH) is a rare condition, where a definitive diagnosis is often hard to reach.Objectives: To describe the clinical, biochemical and genetic findings in cases with suspected HH in the West of Scotland who were referred for genetic analysis between 2016 and 2020.Methods: Information was collected on clinical assessment including family hist...

hrp0094p2-397 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Vascular dysfunction and increased cardiovascular risk in hypospadias

Lucas-Herald Angela K , C Montezano Augusto , Alves-Lopes Rheure , Haddow Laura , Alimussina Malika , O’Toole Stuart , Flett Martyn , Lee Boma , Basith Amjad S , Steven Mairi , Brooksbank Katriona , McCallum Linsay , Delles Christian , Padmanabhan Sandosh , Faisal Ahmed S , Touyz Rhian ,

Background: Hypogonadism has been associated with cardiovascular disease. However, little is known about the cardiovascular impact of hypogonadism during development. Using hypospadias as a surrogate of hypogonadism, we investigated whether hypospadias is associated with vascular dysfunction during childhood and whether it is a risk factor for adult cardiovascular disease.Methods: Our human study spanned molecular mechan...