Searchable abstracts of presentations at key conferences in endocrinology

ea0059ep93 | Reproduction | SFEBES2018

The challenge of diagnosing 5-alpha-reductase deficiency post gonadectomy

Miles Stephanie , Shears Deborah , Shine Brian , Grossman Ashley , Pal Aparna

A 35 year old woman was referred to Endocrinology after imaging investigating unexplained pyrexia demonstrated an absent uterus. She was of Pakistani origin and was born phenotypically female with reported normal female genitalia. During late teenage years she experienced virilisation with deepening voice, increased pubic and axillary hair and clitoromegaly. She had absent breast development. Her parents were first cousins and siblings were unaffected. Investigations in Pakist...

ea0091p28 | Poster Presentations | SFEEU2023

Mitochondrial DNA Depletion syndrome 1 (MNGIE type) – a rare cause of premature ovarian failure?

Matheou Michael , Tan Garry D , Karpe Fredrik , Brady Stefen , Kent Louisa , Javaid Kassim , Marshall Jonathan , Shears Deborah , Turner Helen E

Case history: A 39 year old lady was being investigated and managed for premature ovarian insufficiency (onset aged 29y) associated with an unusual constellation of symptoms. Following normal childhood and pubertal development, she subsequently developed fatigue, multiple gastrointestinal symptoms and was underweight with evidence of weight loss, and a most recent BMI of 17 kg/m2. She had previously been reviewed due to marked absence of subcutaneous fat in the lowe...

ea0094p110 | Reproductive Endocrinology | SFEBES2023

Do all women with turner syndrome with 45, X/46, XY mosaic karyotype need early gonadectomy?: Experience from an adult tertiary care centre

A D Mathara Diddhenipothage Mathara Diddhenipothage Shani , J Beck Beck Katharina , Calanchini Matilde , Shears Deborah , E Turner Helen

Introduction: Reports suggest the karyotype of up to 10% of women with Turner syndrome (TS) includes presence of a Y chromosome. Current guidelines recommend early gonadectomy given the potential risk of gonadoblastoma. However, the evidence basis for this practice is not strong. We aimed to assess pubertal development, clinical features, incidence of gonadoblastoma and long-term outcome including pregnancy in an adult-tertiary care TS clinic.<p class="abs...

ea0086p343 | Neuroendocrinology and Pituitary | SFEBES2022

Variants in Methyl-CpG-binding protein 2 (MECP2) are associated with X-Linked Central Precocious Puberty

E Read Jordan , Pinheiro-Machado Canton Ana , Tinano Flavia , Guasti Leonardo , Ribeiro Montenegro Luciana , Ryan Fiona , Shears Deborah , Paganoni Alyssa , Korbonits Marta , Jorge Alexander , David Alessia , Bilharinho Mendonca Berenice , Nahime Brito Vinicius , Claudia Latronico Ana , Howard Sasha R

Whilst several key genetic contributors to the phenotype of central precocious puberty (CPP) have been recognized, many familial cases remain without a clear genetic aetiology. Methyl-CpG-binding protein 2 (MECP2) is a chromatin-associated transcriptional regulator, which plays an essential role in neuronal maturation. It is encoded by the MECP2 gene, located at chromosome Xq28, which is highly expressed in brain tissues. Loss-of-function mutations in MECP2 are usually associa...

ea0084op-08-37 | Oral Session 8: Basic 2 | ETA2022

Resistance to thyroid hormone alpha: molecular, biochemical and physiological approach to diagnosis and therapy

Agostini Maura , Pietzner Maik , Marelli Federica , Prapa Matina , Moran Carla , Edward Visser W. , Brown Dave , Thomas Ellen , Schoenmakers Erik , Romartinez-Alonso Beatriz , Scheuplein Rabea , Tylki-Szymanska Anna , Lyons Greta , Watson Laura , Rajanayagam Odelia , Schwedhelm Edzard , F. Hartmann Michaela , Wudy Stefan , Probst Maiken , MacDonald Stephen , Thomas William , Arlt Wiebke , Volker Uwe , M. Main Katharina , Feldt-Rasmussen Ulla , T. Dattani Mehul , Koren Dahll Louise , Demir Korcan , Kara Cengiz , Kirbiyik Ozgur , Mammadova Jamala , Cayır Atilla , Yarali Oguzhan , Phan-Hug Franziska , Sakremath Rajesh , Mohamed Zainaba , Shinawi Marwan , Gill Harpreet , pacaud Daniele , Perrier Renee , Poke Gemma , Hunter Wendy , Douzgou Sofia , Wakeling Emma , Gardham Alice , Lim Derek , Shears Deborah , Freel Marie , Omladic Jasna , Tansek Mojca , Writzl Karin , Farooqi Sadaf , Kopp Peter , Schwabe John , Persani Luca , Chatterjee Krishna

Objectives: THRA mutations cause Resistance to Thyroid Hormone α (RTHα), an underdiagnosed disorder with hypothyroid features but near-normal thyroid function tests (TFTs). We developed a pathway, combining molecular analyses, new biomarkers and physiological measurements, to better diagnose and treat this disorder.Methods: Structural and functional analyses of THRA variants, discovered by next generation sequencing in specifi...