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ey0017.9-6 | Fertility-Related Issues | ESPEYB17

9.6. Assessment of ovarian function in adolescents and young adults after childhood cancer treatment-How accurate are young adult/parent proxy-reported outcomes?

SA George , R Williamson Lewis , L McKenzie , B Cherven , BC Patterson , KE Effinger , AC Mertens , LR Meacham

To read the full abstract: Pediatr Blood Cancer. 2019;66(12):e27981. sgeorg4@emory.eduThis cross-sectional study tested the concordance between young adult (or parent proxy)-reported premature ovarian insufficiency (POI) and biochemical evidence of POI, defined as FSH ≥40 mIU/ml, in 182 childhood cancer survivors (CCS) who had received gonadotoxic therapy. Reported POI was defined as the survivor taki...

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ey0015.3-10 | Graves’ disease | ESPEYB15

3.10 Long-term outcome of thyrotoxicosis in childhood and adolescence in the west of Scotland: the case for long-term antithyroid treatment and the importance of initial counselling

M Kourime , S McGowan , M Al Towati , SF Ahmed , G Stewart , S Williamson , I Hunter , MDC Donaldson

To read the full abstract: Arch Dis Child 2018;103:637-642Management of thyrotoxicosis in children and adolescents remains challenging and treatment varies considerably among institutions. The patient’s age, clinical status and likelihood of remission should be considered when counseling patients and parents. Nevertheless, individual prognosis of antithyroid drug treated Graves’ diseas...

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ey0018.11-4 | New hope: Increased diagnostic yield for disease causing MC4R variants and pharmacological treatment options | ESPEYB18

11.4. Loss-of-function mutations in the melanocortin 4 receptor in a UK birth cohort

KH Wade , BYH Lam , A Melvin , W Pan , LJ Corbin , DA Hughes , K Rainbow , JH Chen , K Duckett , X Liu , J Mokrosiński , A Morseburg , S Neaves , A Williamson , C Zhang , IS Farooqi , GSH Yeo , NJ Timpson , S O'Rahilly

Nat Med, 2021 Jun;27(6):1088–1096. 10.1038/s41591-021-01349-y. https://pubmed.ncbi.nlm.nih.gov/34045736/This paper reports the high prevalence of MC4R loss-of-function (LoF) variants in a normal population and their large impact on longitudinally assessed anthropometric traits from birth to young adult life.Th...

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ey0021.15-10 | Artificial Intelligence | ESPEYB21

15.10. A foundation model for generalizable disease detection from retinal images

Y Zhou , MA Chia , SK Wagner , MS Ayhan , DJ Williamson , RR Struyven , T Liu , M Xu , MG Lozano , P Woodward-Court , Y Kihara , UKB Eye , C Vision , A Altmann , AY Lee , EJ Topol , AK Denniston , DC Alexander , PA. Keane

In Brief: The authors present RETFound, a self-supervised learning approach that has so far analysed 1.6 million retinal images to enable disease detection. RETFound shows good accuracy for diagnosis and prognosis of sight-threatening eye diseases. It also contributes to incident prediction of complex systemic disorders such as heart failure and myocardial infarction.The well-known saying the eyes are the window to the soul means ...

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ey0019.7-12 | Basic Science | ESPEYB19

7.12. MC3R links nutritional state to childhood growth and the timing of puberty

BYH Lam , A Williamson , S Finer , FR Day , JA Tadross , Soares A Goncalves , K Wade , P Sweeney , MN Bedenbaugh , DT Porter , A Melvin , KLJ Ellacott , RN Lippert , S Buller , J Rosmaninho-Salgado , GKC Dowsett , KE Ridley , Z Xu , I Cimino , D Rimmington , K Rainbow , K Duckett , S Holmqvist , A Khan , X Dai , X Bochukova , X Genes & Health Research Team , X Martin , X Coll , X Rowitch , X Wareham , X van Heel , X Timpson , X Simerly , X Ong , X Cone , X Langenberg , X Perry , X Yeo , X O'Rahilly

Nature. 2021 Nov;599(7885):436-441. doi: 10.1038/s41586-021-04088-9. Epub 2021 Nov 3. PMID: 34732894. https://www.nature.com/articles/s41586-021-04088-9Brief Summary: This combination of a multi-cohort and animal studies describes the clinical impact of MC3R gene mutations. The authors identified a clinical syndrome ...

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ey0021.7-8 | Clinical Guidance and Studies | ESPEYB21

7.8. Prevalence of deleterious variants in MC3R in patients with constitutional delay of growth and puberty

K Duckett , A Williamson , JWR Kincaid , K Rainbow , LJ Corbin , HC Martin , RY Eberhardt , QQ Huang , ME Hurles , W He , R Brauner , A Delaney , L Dunkel , RP Grinspon , JE Hall , JN Hirschhorn , SR Howard , AC Latronico , AAL Jorge , K McElreavey , V Mericq , PM Merino , MR Palmert , L Plummer , RA Rey , RC Rezende , SB Seminara , K Salnikov , I Banerjee , BYH Lam , JRB Perry , NJ Timpson , P Clayton , YM Chan , KK Ong , S O'Rahilly

Brief Summary: this large patient cohort study identified an overrepresentation of functionally damaging variants in MC3R in individuals with constitutional delay of growth and puberty but not in patients with IHH.Melanocortin 3 receptor (MC3R) is a permissive signal expressed by hypothalamic kisspeptin-neurokinin B-dynorphin (KNDY) neurons. It activates puberty through the leptin-proopiomelanocortin pathway in response to nutritional signaling<...

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ey0018.14-6 | (1) | ESPEYB18

14.6. Whole-genome sequencing of patients with rare diseases in a national health system

Turro Ernest , Astle William J , Megy Karyn , Graf Stefan , Greene Daniel , Shamardina Olga , Allen Hana Lango , Sanchis-Juan Alba , Frontini Mattia , Thys Chantal , Stephens Jonathan , Mapeta Rutendo , Burren Oliver S , Downes Kate , Haimel Matthias , Tuna Salih , Deevi Sri V V , Aitman Timothy J , Bennett David L , Calleja Paul , Carss Keren , Caulfield Mark J , Chinnery Patrick F , Dixon Peter H , Gale Daniel P , James Roger , Koziell Ania , Laffan Michael A , Levine Adam P , Maher Eamonn R , Markus Hugh S , Morales Joannella , Morrell Nicholas W , Mumford Andrew D , Ormondroyd Elizabeth , Rankin Stuart , Rendon Augusto , Richardson Sylvia , Roberts Irene , Roy Noemi B A , Saleem Moin A , Smith Kenneth G C , Stark Hannah , Tan Rhea Y Y , Themistocleous Andreas C , Thrasher Adrian J , Watkins Hugh , Webster Andrew R , Wilkins Martin R , Williamson Catherine , Whitworth James , Humphray Sean , Bentley David R , Kingston Nathalie , Walker Neil , Bradley John R , Ashford Sofie , Penkett Christopher J , Freson Kathleen , Stirrups Kathleen E , Raymond F Lucy , Ouwehand Willem H

Nature 2020; 583: 96102https://www.nature.com/articles/s41586-020-2434-2The authors applied whole-genome sequencing (WGS) in 9,802 patients with a rare disease in a national health system to streamline diagnosis and to discover unknown aetiological variants in the coding and non-coding regions of the genome. WGS identified the genetic diagnosis in 1138/7065 extensively phenoty...

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ESPE Yearbook of Paediatric Endocrinology

9.6. Assessment of ovarian function in adolescents and young adults after childhood cancer treatment-How accurate are young adult/parent proxy-reported outcomes?

3.10 Long-term outcome of thyrotoxicosis in childhood and adolescence in the west of Scotland: the case for long-term antithyroid treatment and the importance of initial counselling

11.4. Loss-of-function mutations in the melanocortin 4 receptor in a UK birth cohort

15.10. A foundation model for generalizable disease detection from retinal images

7.12. MC3R links nutritional state to childhood growth and the timing of puberty

7.8. Prevalence of deleterious variants in MC3R in patients with constitutional delay of growth and puberty

14.6. Whole-genome sequencing of patients with rare diseases in a national health system

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