ISSN 1662-4009 (online)

ey0021.3-6 | Thyroid Function - Genetic Determinants and Associations with Health and (Thyroid) Disease | ESPEYB21

3.6. Genetic determinants of thyroid function in children

Mulder Tessa A , Campbell Purdey J , Taylor Peter N , Peeters Robin P , Wilson Scott G , Medici Marco , Dayan Colin , Jaddoe Vincent V W , Walsh John P , Martin Nicholas G , Tiemeier Henning , Korevaar Tim I M

Brief Summary: This study investigated the genetic determinants of thyroid function in newborns and (pre)school children by analyzing the associations between single nucleotide polymorphisms (SNPs) previously identified in adults, and childhood TSH within the reference interval, and FT4 concentrations. It included three large population-based cohorts with data on genetic variants and thyroid function: Generation R (Netherlands), ALSPAC (UK), and BLTS (Australia), comprising 7,...

ey0021.8-5 | Important for Clinical Practice | ESPEYB21

8.5. High-resolution daily profiles of tissue adrenal steroids by portable automated collection

TJ Upton , E Zavala , P Methlie , O Kampe , S Tsagarakis , M Oksnes , S Bensing , DA Vassiliadi , MA Grytaas , IR Botusan , G Ueland , K Berinder , K Simunkova , M Balomenaki , D Margaritopoulos , N Henne , R Crossley , G Russell , ES Husebye , SL Lightman

Brief Summary: This paper describes a novel ambulatory fraction collector that can be used with microdialysis to obtain high resolution steroid profiles over a 24-hour period.Comment: The natural circadian and ultradian secretion of adrenal hormones makes single timepoint measurements of these hormones uninformative for clinical decision making (1-3). Repeated sampling during the day requires admission into an atypical, and often disruptive, clinical set...

ey0021.13-1 | Diabetes and Diabetes Technology | ESPEYB21

13.1. Feasibility of continuous glucose monitoring in patients with type 1 diabetes at two district hospitals in Neno, Malawi: a randomised controlled trial

A Gomber , F Valeta , MM Coates , C Trujillo , G Ferrari , M Boti , K Kumwenda , B Mailosi , D Nakotwa , L Drown , EB Wroe , A Thapa , V Mithi , B Matanje , A Msekandiana , PH Park , C Kachimanga , G Bukhman , T Ruderman , AJ Adler

Brief Summary: This randomized-control study at two rural hospitals in Malawi investigated the feasibility of continuous glucose monitoring (CGM) to improve care of patients with Type 1 diabetes (T1D) in a low-income and limited literacy setting. CGM was feasible with potential benefits, but the authors highlight several challenges in implementing advanced diabetes care in such settings.This trial 2:1 randomized 45 patients with T1D to Dexcom G6 CGM (n=3...

ey0019.7-1 | Clinical Guidance | ESPEYB19

7.1. Whole exome sequencing identifies deleterious rare variants in CCDC141 in familial self-limited delayed puberty

T Saengkaew , G Ruiz-Babot , A David , A Mancini , K Mariniello , CP Cabrera , MR Barnes , L Dunkel , L Guasti , SR Howard

NPJ Genom Med. 2021 Dec 20;6(1):107. doi: 10.1038/s41525-021-00274-w. PMID: 34930920https://www.nature.com/articles/s41525-021-00274-wBrief Summary: This cross-sectional study describes the genetic data of a cohort of patients with self-limited delayed puberty, finding a high prevalence of CCDC141 gene mutations. Usi...

ey0019.7-2 | Clinical Guidance | ESPEYB19

7.2. Genetic evaluation supports differential diagnosis in adolescent patients with delayed puberty

T Saengkaew , HR Patel , K Banerjee , G Butler , MT Dattani , M McGuigan , HL Storr , RH Willemsen , L Dunkel , SR Howard

Eur J Endocrinol. 2021 Oct 8;185(5):617-627. doi: 10.1530/EJE-21-0387. PMID: 34403359. https://eje.bioscientifica.com/view/journals/eje/185/5/EJE-21-0387.xmlBrief Summary: This study investigates the role of Whole Exome Sequencing in the differential diagnosis of delayed puberty, evaluating a geno...

ey0019.8-5 | Important for Clinical Practice | ESPEYB19

8.5. Adrenal steroids reference ranges in infancy determined by LC-MS/MS

EO Enver , P Vatansever , O Guran , L Bilgin , P Boran , S Turan , G Haklar , A Bereket , T Guran

Pediatr Res. 2021; 92(1):265-274. doi: 10.1038/s41390-021-01739-5. PMID: 34556810https://pubmed.ncbi.nlm.nih.gov/34556810/Brief Summary: This study provides a detailed set of normative reference values for steroidogenesis during the first 6 months of life, which may facilitate rapid testing of infants for steroidogenic disorders.<p...

ey0019.9-10 | Fertility issues and reproductive outcomes in childhood cancer survivors | ESPEYB19

9.10. In male Hodgkin lymphoma patients, impaired fertility may be improved by non-gonadotoxic therapy

Laddaga F.E. , Masciopinto P. , Nardelli C. , Vacca M.P. , Masciandaro P. , Arcuti E. , Cicinelli E. , Specchia G. , Musto P. , Gaudio F.

fragaudio@alice.it British Journal of Haematology, 2022, 196, 110–115. PMID: 34462914.Brief Summary: This prospective single-centre study evaluated fertility in men diagnosed with Hodgkin lymphoma (HL) by sperm analysis, in order to identify clinical and biological characteristics correlated with fertility status. Only 28% of men showed normal sperm analysis.Previous studies in ...

ey0019.10-11 | Complications and comorbidities | ESPEYB19

10.11. Thirty-Year time trends in diabetic retinopathy and macular edema in youth with type 1 diabetes

DW Allen , G Liew , YH Cho , A Pryke , J Cusumano , S Hing , AK Chan , ME Craig , KC Donaghue

Diabetes Care. 2022 May 20:dc211652. https://pubmed.ncbi.nlm.nih.gov/35594057/Brief Summary: This longitudinal study reports trends in diabetic retinopathy (DR) and macular edema (DME) across 3 decades: 1990-1999, 2000-2009, 2010-2019, in a large Australian cohort of 2404 adolescents with type 1 diabetes (T1D). The prevalence of DR decreased between 1990-1999 and 2000-2009, from 40 to 21%, ...

ey0019.14-19 | Reviews | ESPEYB19

14.19. Cytoplasmic DNA: sources, sensing, and role in aging and disease

Miller Karl N , Victorelli Stella G , Salmonowicz Hanna , Dasgupta Nirmalya , Liu Tianhui , Passos Joao F , Adams Peter D

Cell. 2021 Oct 28;184(22):5506–5526. doi: 10.1016/j.cell.2021.09.034Brief Summary: The authors review the function and the underlying molecular mechanisms of 4 major species of endogenous cytoplasmic DNA (cytoDNA) in the development of chronic ageing-associated diseases.In the presence of foreign DNA (e.g. viral infections), innate immunity acts as a defence mec...

ey0017.3-7 | Congenital hypothyroidism | ESPEYB17

3.7. DUOX2/DUOXA2 mutations frequently cause congenital hypothyroidism that evades detection on newborn screening in the UK

C Peters , AK Nicholas , E Schoenmakers , G Lyons , S Langham , EG Serra , NJ Sebire , M Muzza , L Fugazzola , N Schoenmakers

To read the full abstract: Thyroid. 2019;29:790–801.Patients with mutations in the dual oxidase 2 (DUOX2 ) gene – encoding a NADPH oxidase that generates hydrogen peroxidase for iodide organification – have been repeatedly reported as not being detected by neonatal screening because it causes only mild hyperthyrotropinemia at birth. Here, Peters et al. determined the incidence of DUOX2 and dual oxidase 2...