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ey0020.6-7 | Clinical Trials – New Treatments | ESPEYB20

6.7. [¹¹C]metomidate PET-CT versus adrenal vein sampling for diagnosing surgically curable primary aldosteronism: A prospective, within-patient trial

X Wu , R Senanayake , E Goodchild , WA Bashari , J Salsbury , CP Cabrera , G Argentesi , SM O'Toole , M Matson , B Koo , L Parvanta , N Hilliard , V Kosmoliaptsis , A Marker , DM Berney , W Tan , R Foo , CA Mein , E Wozniak , E Savage , A Sahdev , N Bird , K Laycock , I Boros , S Hader , V Warnes , D Gillett , A Dawnay , E Adeyeye , A Prete , AE Taylor , W Arlt , AN Bhuva , F Aigbirhio , C Manisty , A McIntosh , A McConnachie , JK Cruickshank , H Cheow , M Gurnell , WM Drake , MJ Brown

Brief summary: This study validates dexamethasone-suppressed [11C]metomidate positron emission tomography computed tomography (MTO) scanning as a CYP11B2-selective investigation for lateralizing PA.Primary aldosteronism (PA) is the most common single cause of hypertension, accounting for 514% of all cases and 2025% of treatment-resistant hypertension (1, 2). Traditionally, patients with PA are divided equally into ...

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ey0015.2-3 | Mutations in the FOXA2 gene link beta cell dysfunction with Hypopituitarism | ESPEYB15

Mutations in the FOXA2 gene link beta cell dysfunction with Hypopituitarism

ME Vajravelu , J Chai , B Krock , S Baker , D Langdon , C Alter , DD De León

To read the full abstract: J Clin Endocrinol Metab. 2018 Mar 1;103(3):1042-1047See Comment under 2.4....

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ey0018.3-7 | Follow-up paper from the 2018 Yearbook | ESPEYB18

3.7. A Novel homozygous mutation in the solute carrier family 26 member 7 gene causes thyroid dyshormonogenesis in a girl with congenital hypothyroidism

P Hermanns , C Claszen , J Pohlenz

Thyroid. 2020;30:18311833. doi: 10.1089/thy.2020.0293.Every year, we report on new genes that have been associated with congenital hypothyroidism. But it is the first time in all these years that, following the first description, other groups from different continents confirm the first reports in independent cohorts in such a short time after publication.This is ...

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ey0015.6-12 | Disorders of Sex Development: New paradigm | ESPEYB15

6.12 Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children

A Bashamboo , C Eozenou , A Jorgensen , J Bignon-Topalovic , JP Siffroi , C Hyon , A Tar , P Nagy , J Sólyom , Z Halász , A Paye-Jaouen , S Lambert , D Rodriguez-Buritica , R Bertalan , L Martinerie , E Rajpert-De Meyts , JC Achermann , K McElreavey

To read the full abstract: Am J Hum Genet. 2018 Mar 1;102(3):487-493See comment on 6.13...

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ey0018.3-15 | Thyroid Cancer | ESPEYB18

3.15. Lymph node metastasis prediction of papillary thyroid carcinoma based on transfer learning radiomics

J Yu , Y Deng , T Liu , J Zhou , X Jia , T Xiao , S Zhou , J Li , Y Guo , Y Wang , J Zhou , C Chang

Nat Commun. 2020;11:4807. doi: 10.1038/s41467-020-18497-3.This interesting paper illustrates the potential of machine learning to improve the sensitivity and specificity of routine techniques in clinical practice if large cohorts for training and validation of models are used. Yu et al. present a transfer learning model (machine learning approach to solve research problems by r...

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ey0016.6-10 | Ethical Aspects | ESPEYB16

6.10. Management of pediatric patients with DSD and ambiguous genitalia: Balancing the child's moral claims to self-determination with parental values and preferences

DA Diamond , J Swartz , A Tishelman , J Johnson , YM Chan

J Pediatr Urol. 2018 Oct;14(5):416.e1416.e5.doi: 10.1016/j.jpurol.2018.04.029. PubMed ID: 29903608This paper discusses the management of three DSD cases with difficult sex assignment at a US center. The goal of this report was to explore factors involved in parental decision making and the challenge to reconcile respect for the childs integrity with ...

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ey0015.11-4 | New Developments in Monogenic Obesity | ESPEYB15

11.4 Early Childhood BMI Trajectories in Monogenic Obesity due to Leptin–, Leptin Receptor- and Melanocortin 4 Receptor Deficiency

K Kohlsdorf , A Nunziata , JB Funcke , S Brandt , J von Schnurbein , H Vollbach , B Lennerz , M Fritsch , S Greber-Platzer , E Fröhlich-Reiterer , M Lüdeke , G Borck , KM Debatin , P Fischer-Posovszky , M Wabitsch

To read the full abstract: Int J Obes (Lond). 2018 Feb 27.See comment on 11.7...

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ey0019.7-4 | Clinical Guidance | ESPEYB19

7.4. The use of morning urinary gonadotropins and sex hormones in the management of early puberty in chinese girls

S Zhan , K Huang , W Wu , D Zhang , A Liu , RM Dorazio , J Shi , R Ullah , L Zhang , J Wang , G Dong , Y Ni , J Fu

J Clin Endocrinol Metab. 2021 Oct 21;106(11):e4520-e4530. doi: 10.1210/clinem/dgab448. Erratum in: J Clin Endocrinol Metab. 2021 Nov 15;: PMID: 34160619https://academic.oup.com/jcem/article/106/11/e4520/6308284Brief Summary: This cross-sectional study of 355 girls with Central Precocious Puberty (CPP) evaluates t...

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ey0017.8-20 | Reviews | ESPEYB17

8.20 11-Oxygenated androgens in health and disease

AF Turcu , J Rege , RJ Auchus , WE Rainey

To read the full abstract: Nat Rev Endocrinol. 2020; 16(5): 284296. PMID: 32203405.The adrenal gland is the primary source of 11-oxygenated 19-carbon steroids, also termed 11-oxyandrogens, which have several roles in human physiology and disease. These include 11β-hydroxyandrostenedione (11OHA4), 11-Ketotestosterone, (downstream metabolite of 11OHA4, mostly produced in peripheral...

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ey0019.11-14 | Weight regulation and endocrine circuits (including interventions) | ESPEYB19

11.14. Energy balance in hypothalamic obesity in response to treatment with a once-weekly GLP-1 receptor agonist

A Shoemaker , H Silver , M Buchowski , J Slaughter , J Yanovski , C Elfers , C Roth , MJ Abuzzahab

Ashley.H.Shoemaker@VUMC.org International Journal of Obesity 2022, Epub 2022 Jan 3. doi: 10.1038/s41366-021-01043-6. https://pubmed.ncbi.nlm.nih.gov/34975146/Brief Summary: This double-blind, placebo-controlled trial assessed the efficacy of 36 weeks of GLP1RA treatment with exenatide e...

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ESPE Yearbook of Paediatric Endocrinology

6.7. [¹¹C]metomidate PET-CT versus adrenal vein sampling for diagnosing surgically curable primary aldosteronism: A prospective, within-patient trial

Mutations in the FOXA2 gene link beta cell dysfunction with Hypopituitarism

3.7. A Novel homozygous mutation in the solute carrier family 26 member 7 gene causes thyroid dyshormonogenesis in a girl with congenital hypothyroidism

6.12 Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children

3.15. Lymph node metastasis prediction of papillary thyroid carcinoma based on transfer learning radiomics

6.10. Management of pediatric patients with DSD and ambiguous genitalia: Balancing the child's moral claims to self-determination with parental values and preferences

11.4 Early Childhood BMI Trajectories in Monogenic Obesity due to Leptin–, Leptin Receptor- and Melanocortin 4 Receptor Deficiency

7.4. The use of morning urinary gonadotropins and sex hormones in the management of early puberty in chinese girls

8.20 11-Oxygenated androgens in health and disease

11.14. Energy balance in hypothalamic obesity in response to treatment with a once-weekly GLP-1 receptor agonist

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