hrp0095p1-333 | Multisystem Endocrine Disorders | ESPE2022

Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome

P. Suntharalingham Jenifer , Ishida Miho , E. Stalman Susanne , Solanky Nita , E. Moore Gudrun , C. Achermann John , Buonocore Federica

Background: Heterozygous de novo variants in SAMD9 cause the complex multisystem growth disorder, MIRAGE syndrome. Core features are myelodysplasia, infection, restricted growth, adrenal hypoplasia, genital/gonadal phenotypes, and enteropathy. However, the range of additional associations is expanding and includes disrupted placental development, poor post-natal growth, and other endocrine features. Milder phenotypes are also described, such ...

hrp0095p1-371 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Exome sequencing reveals a high proportion of causal and candidate gene variants in a large early-onset Primary Ovarian Insufficiency cohort

M McGlacken-Byrne Sinead , P Suntharalingham Jenifer , Ishida Miho , Buonocore Federica , Del Valle Ignacio , Cameron-Pimblett Antoinette , Genomics UCL , T Dattani Mehul , S Conway Gerard , C Achermann John

Background: The presentation of early-onset Primary Ovarian Insufficiency (EO-POI), most often with primary amenorrhea, is at one end of a spectrum spanning 40 years. The aetiology of POI is frequently unclear but next generation sequencing of varied age groups has identified several associated genetic variants. Whether girls with EO-POI are more likely to have a genetic aetiology than those with later presentations remains unknown.<stro...

hrp0095p1-322 | Growth and Syndromes | ESPE2022

Analysis of genetic variability in 134 women with Turner Syndrome using high-throughput next-generation sequencing

P. Suntharalingham Jenifer , Ishida Miho , Cameron-Pimblett Antoinette , M. McGlacken-Byrne Sinead , Del Valle Ignacio , Buonocore Federica , Brooks Anthony , Kaur Madhan Gaganjit , Genomics Sequencing Facility UCL , S. Conway Gerard , C. Achermann John

Background: Turner syndrome (TS) affects 1:2,500 females and results from complete or partial loss of one of the X chromosomes. Typical traits associated with TS include short stature, primary ovarian insufficiency (POI), autoimmune diseases, and cardiovascular and endocrine disorders. Long-term follow-up is needed from the time of presentation into adult life. Several genetic mechanisms have been proposed to account for the development of TS-associated featur...