hrp0095p1-153 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Urinary gonadotrophins as markers of puberty in girls and boys during late childhood and adolescence: Evidence from the SCAMP Cohort

Spiers Alexander , Patjamontri Supitcha , B Smith Rachel , Shen Chen , B. Toledano Mireille , Faisal Ahmed S

Introduction: Urinary gonadotrophins measurement is a noninvasive method for evaluation of pubertal development and may have utility in population studies.Objectives: To investigate the utility of urinary gonadotrophins as a noninvasive biomarker of puberty in boys and girls.Methods: School-based adolescent cohort study with two time points for collecting school time urine samples ...

hrp0095p2-57 | Diabetes and Insulin | ESPE2022

Outcome of positive adrenal antibodies identified on screening in children with T1DM

Pinsker Jonathan , McNeilly Jane , Whyte Karen , Kuehne Vaiva , Faisal Ahmed S , Guftar Shaikh M

Background: Primary adrenal insufficiency (PAI) is characterised by the immune destruction of the adrenal cortex and leads to impaired production of the adrenal hormones. It is a potentially life-threatening condition that can be managed if identified early. The onset is insidious and often difficult to diagnose. Screening for adrenal autoantibodies is routinely performed in autoimmune conditions such as type 1 diabetes mellitus (T1DM). The guidance around the...

hrp0098p2-268 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2024

An Assessment Of The Quality Of Data On The Phenotypic Spectrum of The External Genitalia In Males In The I-DSD Registry

Alimussina Malika , Naotunna Chamidri , K Lucas-Herald Angela , Faisal Ahmed S

Background: To understand the quality of information that is available in the I-DSD Registry (https://sdmregistries.org/), this study aim ed to understand the extent of information that is available on the phenotype of the external genitalia in males that have been included with a condition associated with a suspected hypogonadal state and DSD.Methods: A total of 3,248 m...

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...

hrp0098p2-371 | Late Breaking | ESPE2024

An exploration of a data visualisation web application for rare disease registries.

Panchigar Krish , Tonge Joseph , Bacila Irina , Bryce Jillian , Alimussina Malika , Koley Sanhita , Faisal Ahmed S , R. Lawrence Neil , Krone Nils

Background: Rare disease registries provide rich longitudinal data on patients with rare conditions that can be used for research. Those charged with access to data must safeguard the process, but also have a good oversight of the available data to be able to work with researchers to realistically assess whether there will be adequate data available to answer specific research questions. Data access committees would benefit from a pragmatic method of rapidly a...

hrp0095p1-498 | GH and IGFs | ESPE2022

A Long-Acting Growth Hormone Module For Paediatric Growth Hormone Deficiency In The Global Registry For Novel Therapies In Rare Bone & Endocrine Conditions – The GloBE-Reg LAGH Study

Miller Bradley , Savendahl Lars , Hickman Krystina , Smythe Christopher , Chen Ching , Choi Jin-Ho , Dou Xinyu , Gong Chunxiu , Hamza Rasha , Horikawa Reiko , Jorge Alexander , Faisal Ahmed S.

Introduction: Post-marketing surveillance registries provided extensive information about the safety and efficacy of daily growth hormone (GH) therapy during treatment. With the availability of novel long-acting GH (LAGH) therapies, it is important to determine whether the novel molecules or the different pattern of GH exposure lead to changes in the efficacy and safety profile. Therefore, new surveillance registries of LAGH are warranted.<p class="abstext...

hrp0089p2-p361 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Towards an Integrated Approach to Diagnosis of 46,XY Disorder of Sex Development

Kolesinska Zofia , Acierno James Jr , Faisal Ahmed S. , Kapczuk Karina , Skorczyk-Werner Anna , Mikos Hanna , Rojek Aleksandra , Krawczynski Maciej , Pitteloud Nelly , Niedziela Marek

Background and objective: Given phenotype variability as well as limited utility of conventional endocrine investigations in reaching the diagnosis in a 46,XY patient suspected of a disorder of sex development (DSD), there is an increasingly stronger argument for considering targeted genetic sequencing at an earlier stage of the evaluation process. This study focused on identifying the relationship between clinical examination, endocrine and radiological assessment, as well as...

hrp0086p1-p102 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Radiologically Confirmed Fractures in a Scottish Nationwide Cohort of Boys with Duchenne Muscular Dystrophy

Joseph Shuko , Di Marco Marina , Abu-Arafeh Ishaq , Baxter Alex , Cordeiro Nuno , Horrocks Iain , MacLellan Linda , McWilliam Kenneth , Naismith Karen , O'Hara Ann , Faisal Ahmed S , Wong SC

Background: Published studies of radiologically confirmed fractures in sufficiently large cohorts of boys with Duchenne Muscular Dystrophy (DMD) are limited.Objective: To determine the incidence of fractures in a contemporary cohort of 91 boys with DMD managed in all Scottish centres.Method: Radiologically confirmed fractures were classified into vertebral fracture (VF) and non-VF in a retrospective audit of all boys currently mana...