ISSN 1662-4009 (online)

ey0018.4-2 | Important for clinical practice | ESPEYB18

4.2. Clinical characteristics of short-stature patients with an NPR2 mutation and the therapeutic response to rhGH

Ke X , Liang H , Miao H , Yang H , Wang L , Gong F , Pan H , Zhu H

Clin Endocrinol Metab. 2021;106(2):431–441. doi: 10.1210/clinem/dgaa842. PMID: 33205215This study aimed to describe the clinical characteristics of 6 patients with NPR2 gene mutations and the response to rhGH treatment in 2 of them.The natriuretic peptide receptor 2 gene (NPR2) is a paracrine factor involved in the regulation of cell proliferati...

ey0016.13-7 | Endocrinology: Newborn Screening | ESPEYB16

13.7. A pilot study on newborn screening for congenital adrenal hyperplasia in Beijing

L Gong , X Gao , N Yang , J Zhao , H Yang , Y Kong

J Pediatr Endocrinol Metab 2019; 32(3): 253–258. DOI: 10.1515/jpem-2018-0342• 44,360 neonates were screened for CAH as part of a pilot screening programme in Beijing.• In this prospective study, a CAH incidence of 1:7393 was found, and the most common 21 OHase mutation was c.293-13C/A>G.The authors describe the results of a ...

ey0017.11-7 | Body Weight and Appetite/Energy Regulation | ESPEYB17

11.7. Leptin mediates postprandial increases in body temperature through hypothalamus-adrenal medulla-adipose tissue crosstalk

RJ Perry , K Lyu , A Rabin-Court , J Dong , X Li , Y Yang , H Qing , A Wang , X Yang , GI Shulman

To read the full abstract: J Clin Invest 2020;130(4):2001–16.In this study, Perry et al used their well-established animal model of fasted rats to unravel how feeding induces hyperthermia and energy expenditure.They showed that intracerebroventricular injection of leptin normalized fasting induced low plasma epinephrine and norepinephrine levels and body temperat...

ey0017.15-1 | (1) | ESPEYB17

15.1. Preconception diabetes mellitus and adverse pregnancy outcomes in over 6.4 million women: A population-based cohort study in China

Y Wei , Q Xu , H Yang , Y Yang , L Wang , H Chen , C Anderson , X Liu , G Song , Q Li , Q Wang , H Shen , Y Zhang , D Yan , Z Peng , Y He , Y Wang , Y Zhang , H Zhang , X Ma

To read the full abstract: PLoS Med. 2019 Oct 1;16(10):e1002926. doi: 10.1371/journal.pmed.1002926.The authors analysed a huge dataset from the Chinese national programme of preconception health checks, which include measurements of fasting plasma glucose. Overall, 13.15% (n =847,737) had impaired fasting glucose and 1.18% (n =76,297 women) had diabetes, of whom only...

ey0015.8-8 | Important for Clinical Practice | ESPEYB15

8.8 Noninvasive prenatal diagnosis of 21-hydroxylase deficiency using target capture sequencing of maternal plasma DNA

D Ma , Y Yuan , C Luo , Y Wang , T Jiang , F Guo , J Zhang , C Chen , Y Sun , J Cheng , P Hu , J Wang , H Yang , X Yi , W Wang , Asan , Z Xu

To read the full abstract: Sci Rep. 2017; 7(1): 7427Prenatal dexamethasone treatment has been suggested over three decades ago to prevent virilization of a female fetus affected with 21-hydroxylase deficiency due to genetic mutations in the CYP21A2 gene. However, current treatment guidelines for CAH regard this treatment still as experimental, mainly because follow-up studies of treated fetu...

ey0020.4-3 | Sexuality, Fertility and Fertility Optimization in DSD | ESPEYB20

4.3. AAV-mediated gene therapy produces fertile offspring in the Lhcgr-deficient mouse model of Leydig cell failure

K Xia , F Wang , X Lai , L Dong , P Luo , S Zhang , C Yang , H Chen , Y Ma , W Huang , W Ou , Y Li , X Feng , B Yang , C Liu , Z Lei , X Tu , Q Ke , FF Mao , C Deng , AP Xiang

Brief summary: In this in vivo study, Xia et al. demonstrate that AAV-mediated gene therapy recovers testosterone levels, restarts sexual development, restores spermatogenesis, and produces fertile offspring in a mouse model of Leydig cell failure (LCF).A null mutation in the gene encoding luteinizing hormone/choriogonadotrophin receptor (Lhcgr) causes a hereditary LCF in mice which is characterized by a reduction in testosterone levels...

ey0020.8-10 | New Paradigms | ESPEYB20

8.10. Functional and metabolic alterations of gut microbiota in children with new-onset type 1 diabetes

X Yuan , R Wang , B Han , C Sun , R Chen , H Wei , L Chen , H Du , G Li , Y Yang , X Chen , L Cui , Z Xu , J Fu , J Wu , W Gu , Z Chen , X Fang , H Yang , Z Su , J Wu , Q Li , M Zhang , Y Zhou , L Zhang , G Ji , F Luo

Brief summary: Using in-depth multi-omics analyses of human type 1 diabetes (T1D) samples, the authors profiled gut microbial functional and metabolic alterations. The T1D microbiota showed decreased butyrate production and bile acid metabolism and increased lipopolysaccharide (LPS) biosynthesis. Fecal microbiota transplantation in animal models proved that T1D gut microflora is a causative factor in the regulation of glucose metabolism.The etiology of T...

ey0019.10-16 | Genetics | ESPEYB19

10.16. Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes

CC Robertson , JRJ Inshaw , S Onengut-Gumuscu , WM Chen , Cruz DF Santa , H Yang , AJ Cutler , DJM Crouch , E Farber , SL Jr Bridges , JC Edberg , RP Kimberly , JH Buckner , P Deloukas , J Divers , D Dabelea , JM Lawrence , S Marcovina , AS Shah , CJ Greenbaum , MA Atkinson , PK Gregersen , JR Oksenberg , F Pociot , MJ Rewers , AK Steck , DB; Type 1 Diabetes Genetics Consortium Dunger , LS Wicker , P Concannon , JA Todd , SS Rich

Nat Genet. 2021 Jul;53(7):962-971. https://pubmed.ncbi.nlm.nih.gov/34127860/Brief Summary: The authors report the largest and most diverse genome-wide association study (GWAS) of type 1 diabetes (T1D) to date, including 61,427 participants from different ancestries. It identified 78 significant genomic regions associated with T1D, of which 36 were new. The integration of genetic evidence, f...

ey0015.7-8 | Genetic architecture of hypogonadotropic hypogonadism and delayed puberty | ESPEYB15

7.8 Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures

D Cassatella , SR Howard , JS Acierno , C Xu , GE Papadakis , FA Santoni , AA Dwyer , S Santini , GP Sykiotis , C Chambion , J Meylan , L Marino , L Favre , J Li , X Liu , J Zhang , PM Bouloux , C Geyter , A Paepe , WS Dhillo , JM Ferrara , M Hauschild , M Lang-Muritano , JR Lemke , C Flück , A Nemeth , F Phan-Hug , D Pignatelli , V Popovic , S Pekic , R Quinton , G Szinnai , D l'Allemand , D Konrad , S Sharif , ÖT Iyidir , BJ Stevenson , H Yang , L Dunkel , N Pitteloud

To read the full abstract: Eur J Endocrinol. 2018 Apr;178(4):377-388[Comments on 7.7 and 7.8] Familial self-limited delayed puberty is highly heritable and has a clear genetic basis as described in the review written by Sasha Howard. Recent studies suggest that the genetic basis of self-limited delayed puberty is likely to be highly heteroge...