ISSN 1662-4009 (online)

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=...

ey0016.2-15 | Impact of Maternal Diet on Hypothalamic-Pituitary-Adrenal Function | ESPEYB16

2.15. Maternal high fat diet programs hypothalamic-pituitary-adrenal function in adult rat offspring

X Niu , X Wu , A Ying , B Shao , X Li , W Zhang , C Lin , Y Lin

To read the full abstract: Psychoneuroendocrinology. 2018 Dec 6;102:128–138.This study investigated whether maternal high fat diet (HFD) exposure during rat pregnancy and lactation can alter the hypothalamic-pituitary-adrenal (HPA) in adult male offspring.Maternal diet and metabolic status are important factors which influence the intrauterine and early postna...

ey0019.5-15 | Advances in skeletal biology | ESPEYB19

5.15. Asymmetric activation of the calcium-sensing receptor homodimer

Y Gao , MJ Robertson , SN Rahman , AB Seven , C Zhang , JG Meyerowitz , O Panova , FM Hannan , RV Thakker , H Brauner-Osborne , JM Mathiesen , G Skiniotis

Nature. 2021 Jul;595(7867):455-459.Abstract: https://pubmed-ncbi-nlm-nih-gov/34194040/In brief: Using cryo-electron microscopy, the calcium-sensing receptor (CaSR) is visualized with different ligands demonstrating, in great detail, how calcimimetic drugs lock the CaSR homodimer in an assymetric configuration, exposing one of the two protomers for G-protein coupling, whereas calciolytic dru...

ey0018.11-4 | New hope: Increased diagnostic yield for disease causing MC4R variants and pharmacological treatment options | ESPEYB18

11.4. Loss-of-function mutations in the melanocortin 4 receptor in a UK birth cohort

KH Wade , BYH Lam , A Melvin , W Pan , LJ Corbin , DA Hughes , K Rainbow , JH Chen , K Duckett , X Liu , J Mokrosiński , A Morseburg , S Neaves , A Williamson , C Zhang , IS Farooqi , GSH Yeo , NJ Timpson , S O'Rahilly

Nat Med, 2021 Jun;27(6):1088–1096. 10.1038/s41591-021-01349-y. paper reports the high prevalence of MC4R loss-of-function (LoF) variants in a normal population and their large impact on longitudinally assessed anthropometric traits from birth to young adult life.Th...

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...