ISSN 1662-4009 (online)

ey0019.5-14 | Translational highlights | ESPEYB19

5.14. Fibrillin-1 deficiency in the outer perichondrium causes longitudinal bone overgrowth in mice with Marfan syndrome

L Sedes , E Wondimu , B Crockett , J Hansen , A Cantalupo , K Asano , R Iyengar , D.B Rifkin , S Smaldone , F Ramirez

Hum Mol Genet ddac107 (2022)Abstract: https://pubmed.ncbi.nlm.nih.gov/35567544/In Brief: Disproportionate tall stature represents a hallmark feature of Marfan syndrome, although specific mechanisms underlying linear bone overgrowth are unclear. This study used an ex vivo model system to identify dysregulation of TGFβ-binding proteins in the outer perichondrium as causative for the bon...

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 ...

ey0019.10-8 | New paradigms | ESPEYB19

10.8. Insulin is expressed by enteroendocrine cells during human fetal development

A Egozi , D Llivichuzhca-Loja , BT McCourt , K Bahar Halpern , L Farack , X An , F Wang , K Chen , L Konnikova , S Itzkovitz

Nat Med. 2021 Dec;27(12):2104-2107. https://pubmed.ncbi.nlm.nih.gov/34887578/Brief Summary: This study used single-cell transcriptomic analyses to generate a cell atlas of the human fetal and neonatal small intestine. Notably, the authors identified a subset of fetal enteroendocrine K/L cells (named FIKL) that express high levels of insulin and other beta cell genes.T...

ey0019.13-6 | Improving access to healthcare in pediatric endocrinology and diabetes | ESPEYB19

13.6. Access to fludrocortisone and to hydrocortisone in children with congenital adrenal hyperplasia in the WHO Eastern Mediterranean region: it takes a village…

A Rowlands , A Deeb , A Ladjouze , RT Hamza , SA Musa , J Raza , F Jennane , A Abu-Libdeh , JP Chanoine , the GPED CAH Working Group

jchanoine@cw.bc.ca BMJ Global Health 2021;6:e007195. doi: 10.1136/bmjgh-2021-007195Brief Summary: This review found that access to oral fludrocortisone and hydrocortisone remains suboptimal in the WHO Eastern Mediterranean Region. Improvement requires a collaboration between health professionals, families of patients, health authorities, pharmaceutica...

ey0019.14-11 | Risk and Outcome | ESPEYB19

14.11. SGA-born adults with postnatal catch-up have a persistently unfavourable metabolic health profile and increased adiposity at age 32 years

Goedegebuure Wesley J. , Van der Steen Manouk , Smeets Carolina CJ , Kerkhof Gerthe F , Hokken-Koelega Anita CS

European Journal of Endocrinology (2022)187:15–26 doi: 10.1530/EJE-21-1130Brief Summary: This study, PROGRAM32, investigated 287 adults mean age 32 years who had participated 10 years earlier in the PROGRAM study on the metabolic and cardiovascular consequences of low birth weight (LBW). The aim was to investigate the adverse metabolic profile of being small for gestational age with spontane...

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...

ey0017.4-10 | New perspectives | ESPEYB17

4.10. IGF-I in cord blood is predictive of final height in monozygotic twins with intratwin birth weight differences

C Kasner , S Schulte , F Schreiner , R Fimmers , B Stoffel-Wagner , P Bartmann , J Woelfle , B Gohlke

To read the full abstract: Clin Endocrinol (Oxf) 2020 May 13. doi: 10.1111/cen.14221. Online ahead of print.Children born either small for gestational age (SGA) or preterm usually do not achieve a final height (FH) in the mid-parental target height (MPTH) range, despite showing catch-up growth in the first years of life (1). The influence of intrauterine metabolic and hormonal factors has been p...

ey0017.5-15 | Advances in Skeletal Biology | ESPEYB17

5.15. A simple method based on confocal microscopy and thick sections recognizes seven subphases in growth plate chondrocytes

A Fernandez-Iglesias , R Fuente , H Gil-Pena , L Alonso-Duran , M Garcia-Bengoa , F et al. Santos

To read the full abstract: Sci Rep 2020;10:6935.In brief: A well-defined and optimized protocol using confocal microscopy allowed novel insight into growth plate chondrocyte differentiation by quantitative analysis of cellular characteristics of murine growth plate samples.Commentary: The growth plate is a complex tissue with a unique morphology char...

ey0017.7-7 | Basic Science | ESPEYB17

7.7. Environmentally relevant perinatal exposures to bisphenol A disrupt postnatal Kiss1/NKB neuronal maturation and puberty onset in female mice

F Ruiz-Pino , D Miceli , D Franssen , MJ Vazquez , A Farinetti , JM Castellano , G Panzica , M Tena-Sempere

To read the full abstract: Environmental health perspectives vol. 127,10 (2019): 107011. doi: https://ehp.niehs.nih.gov/doi/full/10.1289/EHP5570?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmedThis study identifies the effects of exposure to environmentally rel...

ey0017.8-4 | Important for Clinical Practice | ESPEYB17

8.4. Long-term outcome of primary bilateral macronodular adrenocortical hyperplasia after unilateral adrenalectomy

A Osswald , M Quinkler , G Di Dalmazi , T Deutschbein , G Rubinstein , K Ritzel , S Zopp , J Bertherat , F Beuschlein , M Reincke

To read the full abstract: J Clin Endocrinol Metab. 2019; 104(7): 2985–2993. PMID: 30844071.Endogenous Cushing syndrome (CS) is a severe condition characterized by excessive glucocorticoid production (1). In 20% of cases, cortisol is secreted autonomously by the adrenal cortex (2). Adrenal CS is mostly caused by unilateral cortisol-producing adrenal ad...