ISSN 1662-4009 (online)

ey0015.2-12 | Neonatal diabetes with autoimmunity can be associated with LRBA Mutations | ESPEYB15

Neonatal diabetes with autoimmunity can be associated with LRBA Mutations

MB Johnson , E De Franco , H Lango Allen , A Al Senani , N Elbarbary , Z Siklar , M Berberoglu , Z Imane , A Haghighi , Z Razavi , I Ullah , Alyaarubi , D Gardner , S Ellard , AT Hattersley , SE Flanagan

To read the full abstract: Diabetes 2017 Aug;66(8):2316-2322Biallelic mutations in the human lipopolysaccharide responsive beige-like anchor (LRBA) gene lead to a primary immunodeficiency known as LRBA deficiency, characterized early-onset hypogammaglobulinemia, severe autoimmune manifestations, enteropathy, lymphoproliferation, and recurrent respiratory tract infections. Neonatal diabetes mellitus (...

ey0018.6-1 | Basic and Genetic Research of DSD | ESPEYB18

6.1. Ovotesticular disorders of sex development in FGF9 mouse models of human synostosis syndromes

AD Bird , BM Croft , M Harada , L Tang , L Zhao , Z Ming , S Bagheri-Fam , P Koopman , Z Wang , K Akita , VR Harley

Hum Mol Genet. 2020 Aug 3;29(13):2148–2161. doi: doi:10.1093/hmg/ddaa100. https://www.ncbi.nlm.nih.gov/pubmed/32452519This study explores the hitherto unknown role of FGF9 in human testis development. The authors use two mouse models that phenocopy the skeletal defects of dominant FGF9 mutations that cause skelet...

ey0019.8-4 | Important for Clinical Practice | ESPEYB19

8.4. A multi-classifier system to identify and subtype congenital adrenal hyperplasia based on circulating steroid hormones

L Ye , Z Zhao , H Ren , W Wang , W Zhou , S Zheng , R Han , J Zhang , H Li , Z Wan , C Tang , S Sun , W Wang , G Ning

J Clin Endocrinol Metab. 2022; dgac271. PMID: 35512387 https://pubmed.ncbi.nlm.nih.gov/35512387/Brief Summary: This study, in a series of independent patient cohorts, developed and validated a clinical score, based on the circulating concentrations of 13 major steroid hormones, to detect and subtype Congenital Adrenal Hyperplasia (CAH).Steroidogenesis is a complex proc...

ey0019.13-5 | Improving access to healthcare in pediatric endocrinology and diabetes | ESPEYB19

13.5. Access to insulin products in Pakistan: a national scale cross-sectional survey on prices, availability, and affordability

A Saeed , K Lambojon , H Saeed , Z Saleem , N Anwer , M Majid Aziz , W Ji , W Liu , C Chen , C Yang , Y Fang , Z-U-D Babar

yufang@mail.xjtu.edu.cn Front Pharmacol 2022 13:820621. doi: 10.3389/fphar.2022.820621Brief Summary: This national cross-sectional survey in Pakistan found poor availability of insulin in the public sector, even for brands manufactured by domestic companies.Access to insulin remains a major issue worldwide in low- and middl...

ey0021.11-2 | Interventions for Weight Loss: New Findings | ESPEYB21

11.2. Mutations in the leptin-melanocortin pathway and weight loss after bariatric surgery: a systematic review and meta-analysis

N Zhang , H Wang , S Ran , Z Wang , B Zhou , S Wang , Z Li , B Liu , Y Nie , Y Huang , H Meng

Brief Summary: This review evaluated the impact of gene mutations in the leptin-melanocortin pathway on short- and long-term outcomes after bariatric surgery, which is still the most effective treatment for severe obesity. This topic is of high clinical relevance, since such mutations play an important role in hunger regulation and energy homeostasis [1, 2] and may therefore confer weight regain after bariatric surgery [3]. To date there have been few publications, often with ...

ey0018.7-9 | Basic Science | ESPEYB18

7.9. ER[alpha] signaling in GHRH/Kiss1 dual-phenotype neurons plays sex-specific roles in growth and puberty

D Garcia-Galiano , AL Cara , Z Tata , SJ Allen , MG Jr Myers , E Schipani , CF Elias

J Neurosci. 2020 Dec 2;40(49):9455–9466. 10.1523/JNEUROSCI.2069-20.2020. PMID: 33158965 https://www.jneurosci.org/content/40/49/9455.longIn brief: These authors used two transgenic mouse models to assess the direct action of estrogens and androgens on GHRH neurons to control growth, pubertal development and reprod...

ey0018.13-8 | Endocrinology | ESPEYB18

13.8. Analysis of the screening results for congenital adrenal hyperplasia involving 7.85 million newborns in China: a systematic review and meta-analysis

Z Li , L Huang , C Du , C Zhang , M Zhang , Y Liang , X Luo

Front Endocrinol 2021; 12:624507. doi: 10.3389/fendo.2021.624507– This systematic review identified 41 Chinese studies totalling 7,853,756 newborns who underwent neonatal CAH screening– The overall incidence of CAH in China was 1/23,024 (95% CI, 1/25,757 to 1/20,815)– Among the CAH patients, the Male:Female ratio was 1.92:1, and 76% presented with salt wasting<p class=...

ey0019.2-10 | Neonatal diabetes mellitus | ESPEYB19

2.10. Genetic reduction of glucose metabolism preserves functional [beta]-cell mass in KATP-induced neonatal diabetes

Z Yan , M Fortunato , ZA Shyr , AL Clark , M Fuess , CG Nichols , MS Remedi

Diabetes. 2022 1;71(6):1233-1245. doi: 10.2337/db21-0992. PMID: 35294000.Brief Summary: This mouse model of diabetes tested the hypothesis that reducing the metabolic flux (rate of metabolism) in the beta cell can prevent beta-cell failure and preserve beta-cell mass. Reducing glucose metabolism may be a mechanism for preventing glucotoxicity-induced loss of functional beta-cell mass in diabetes. <...

ey0019.13-11 | Diabetes | ESPEYB19

13.11. Validation study and outcomes of the diabetes quality of life in youth instrument in Haitian youth with type 1 diabetes residing in Haiti

Y Victor , V Lorgeat , B Coriolan , Z Kamal , R Vincent , JE von Oettingen , K Altenor

julia.vonoettingen@mcgill.ca Can J Diabetes 2022: 46; 32e39. doi: 10.1016/j.jcjd.2021.04.010Brief Summary: This validation study and survey showed that the Diabetes Quality of Life for Youth (DQOLY) questionnaire and the EuroQol Visual Analogue Scale (EQ-VAS) are valid measures of Health-Related Quality of Life in Haitian youth with type 1 ...

ey0017.2-16 | Gestational Diabetes Mellitus: Neonatal and Long-term Consequences | ESPEYB17

2.16. Lactational metformin exposure programs offspring white adipose tissue glucose homeostasis and resilience to metabolic stress in a sex-dependent manner

Z Carlson , H Hafner , M Mulcahy , K Bullock , A Zhu , D Bridges , E Bernal-Mizrachi , B Gregg

To read the full abstract: Am J Physiol Endocrinol Metab. 2020 May 1;318(5):E600–E612. doi: 10.1152/ajpendo.00473.2019. Epub 2020 Mar 10. PMID: 32154743The window of lactation is a critical period during which nutritional and environmental exposures may impact lifelong risks of metabolic diseases (such as type 2 diabetes and obesity). Significant organ and tissue development, organ...