ISSN 1662-4009 (online)

ey0017.8-22 | Reviews | ESPEYB17

8.22. Cushing syndrome: Old and new genes

C Tatsi , C Flippo , CA Stratakis

To read the full abstract: Best Pract Res Clin Endocrinol Metab. 2020:101418. PMID: 32414619.Cushing’s syndrome (CS) is the constellation of signs and symptoms resulting from excessive exposure to cortisol (1). While exogenous CS is relatively common, endogenous CS accounts for only 2.3 to 3.2 new cases per million per year; 10% of these present in children (2–4). Endogenous CS is...

ey0018.7-6 | Clinical Guidance | ESPEYB18

7.6. GnRH stimulation testing and serum inhibin B in males: insufficient specificity for discriminating between congenital hypogonadotropic hypogonadism from constitutional delay of growth and puberty

H Mosbah , C Bouvattier , L Maione , S Trabado , G De Filippo , A Cartes , A Donzeau , P Chanson , S Brailly-Tabard , AA Dwyer , R Coutant , J Young

Hum Reprod. 2020 Oct 1;35(10):2312–2322. 10.1093/humrep/deaa185. PMID: 32862222. https://academic.oup.com/humrep/article/35/10/2312/5899242In brief: This study shows that both the GnRH stimulation test and serum inhibin B have insufficient specificity to discriminate congenital hypogonadotropic hypogonadism (CHH) from c...

ey0019.10-10 | Advances in clinical practice | ESPEYB19

10.10. Telemedicine and COVID-19 pandemic: the perfect storm to mark a change in diabetes care results from a world-wide cross-sectional web-based survey

E Giani , K Dovc , Santos TJ Dos , A Chobot , K Braune , R Cardona-Hernandez , Beaufort C De , A Scaramuzza

ISPAD Jenious Group. Pediatr Diabetes. 2021;22:1115-1119. https://pubmed.ncbi.nlm.nih.gov/34741569/Brief Summary: This cross-sectional survey describes healthcare professionals’ (HCPs) experiences of telemedicine use in diabetes centers across the world, along with the adaptations and challenges associated with its implementation.This is one out of several public...

ey0019.7-7 | Basic Science | ESPEYB19

7.7. Connecting nutritional deprivation and pubertal inhibition via GRK2-mediated repression of kisspeptin actions in GnRH neurons

C Perdices-Lopez , MS Avendano , A Barroso , F Gaytan , F Ruiz-Pino , MJ Vazquez , S Leon , YB Song , V Sobrino , V Heras , A Romero-Ruiz , J Roa , F Jr Mayor , C Murga , L Pinilla , UB Kaiser , M. Tena-Sempere

Metabolism. 2022 Apr;129:155141. doi: 10.1016/j.metabol.2022.155141. Epub 2022 Jan 22. PMID: 35074314. https://www.metabolismjournal.com/article/S0026-0495(22)00019-1/fulltextBrief Summary: the authors used pharmacological and transgenic models to demonstrate the role of GRK2, G protein coupled-recept...

ey0015.12-14 | Important for clinical practice (1) | ESPEYB15

12.14 Cognitive Function in a Randomized Trial of Evolocumab

RP Giugliano , F Mach , K Zavitz , C Kurtz , K Im , E Kanevsky , J Schneider , H Wang , A Keech , TR Pedersen , MS Sabatine , PS Sever , JG Robinson , N Honarpour , SM Wasserman , BR Ott , EBBINGHAUS Investigators

To read the full abstract: N Engl J Med 2017;377:633-643Proprotein convertase subtilisin/kexin type 9 (PCSK9) regulates levels of plasma LDL-C by interacting with the LDL receptor. After binding and internalization, PCSK9 directs the LDL receptor to lysosomal degradation and inhibits its recycling to the cell surface, and thus accelerates the degradation of hepatic LDL receptors. This reduces the ...

ey0017.11-6 | Body Weight and Appetite/Energy Regulation | ESPEYB17

11.6. Leptin’s hunger-suppressing effects are mediated by the hypothalamic-pituitary-adrenocortical axis in rodents

RJ Perry , JM Resch , AM Douglass , JC Madara , A Rabin-Court , H Kucukdereli , C Wu , JD Song , BB Lowell , GI Shulman

To read the full abstract: Proc Natl Acad Sci U S A 2019;116(27):13670–13679. doi: https://pubmed.ncbi.nlm.nih.gov/31213533/In this paper, Perry et al. studied several animal models to disentangle the mechanism by which leptin suppresses hunger. In rats, the hyperphagia induced by a 48 h fast, or a hypoglycemic hyperinsulinemic clamp, or uncontrolled diabetes, was completely s...

ey0019.1-12 | Clinical Papers | ESPEYB19

1.12. Dysgenesis and Dysfunction of the Pancreas and Pituitary Due to FOXA2 Gene Defects

SB Kaygusuz , Ates E Arslan , ML Vignola , B Volkan , BB Geckinli , S Turan , A Bereket , C Gaston-Massuet , T Guran

J Clin Endocrinol Metab. 2021, 106(10):e4142-e4154. doi: 10.1210/clinem/dgab352. PMID: 33999151.Brief Summary: The authors show that patients with hypopituitarism and FOXA2 gene defects also need screening for dysfunction of the pancreas.The Forkhead box A2 transcription factor (FOXA2) is important for normal development of the central nervous system, i...

ey0019.8-11 | New Concerns | ESPEYB19

8.11. Cortisol and development of depression in adolescence and young adulthood - a systematic review and meta-analysis

Z Zajkowska , N Gullett , A Walsh , V Zonca , GA Pedersen , L Souza , C Kieling , HL Fisher , BA Kohrt , V Mondelli

Psychoneuroendocrinology. 2022; 136: 105625. PMID: 34920399https://pubmed.ncbi.nlm.nih.gov/34920399/Brief Summary: This is a systematic review and meta-analysis examined the relationship between cortisol and major depressive disorder in global youth (10–24 years old).Impaired regulation of the hypothalamic-pituitary-adrenal (HPA) axis has been implicated in the de...

ey0020.1-8 | Genetics | ESPEYB20

1.8. The severity of congenital hypothyroidism with gland-in-situ predicts molecular yield by targeted NGS

L Levaillant , N Bouhours-Nouet , F Illouz , JA Jager , A Bachelot , P Barat , S Baron , C Bensignor , AB De La Perriere , YB Djellas , M Caillot , E Caldagues , MN Campas , M Caquard , A Cartault , J Cheignon , A Decrequy , B Delemer , K Dieckmann , A Donzeau , E Doye , M Fradin , M Gaudilliere , F Gatelais , M Gorce , I Hazart , N Houcinat , L Houdon , M Ister-Salome , L Jozwiak , P Jeannoel , F Labarthe , D Lacombe , AS Lambert , C Lefevre , B Leheup , C Leroy , B Maisonneuve , I Marchand , E Marquant , M Muszlak , L Pantalone , S Pochelu , C Quelin , C Radet , P Renoult-Pierre , R Reynaud , S Rouleau , C Teinturier , J Thevenon , C Turlotte , A Valle , M Vierge , C Villanueva , A Ziegler , X Dieu , N Bouzamondo , P Rodien , D Prunier-Mirebeau , R Coutant

Brief summary: Over the recent years several publications reported on next generation sequencing (NGS) in cohorts of patients with congenital hypothyroidism (1). Based on these data, diagnostic yield was higher in patients with gland-in-situ, than with thyroid dysgenesis. Further studies performed NGS only in cohorts of patients with gland-in-situ, excluding thyroid dysgenesis forms such as athyreosis, ectopy, or hypoplasia (2). The publication of Levaillant ...

ey0020.1-14 | Pediatric Thyroid Cancer | ESPEYB20

1.14. Longitudinal analysis of cancer risk in children and adults with germline PTEN variants

L Yehia , G Plitt , AM Tushar , J Joo , CA Burke , SC Campbell , K Heiden , J Jin , C Macaron , CM Michener , HJ Pederson , K Radhakrishnan , J Shin , J Tamburro , S Patil , C Eng

Brief summary: PTEN hamartoma tumor syndrome is one of five well known genetic syndromes associated with differentiated thyroid carcinoma (1,2). PTEN hamartoma tumor syndrome comprises four different entities: Cowdwn syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN-related Proteus syndrome, and Proteus-like syndrome caused by mutations in the PTEN (phosphatase and tensin homologue) tumor suppressor gene [3]. This prospective longitudinal mu...