ISSN 1662-4009 (online)

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

7.7 Genes underlying delayed puberty

SR Howard

To read the full abstract: Mol Cell Endocrinol. 2018 May 4; S0303-7207(18)30149-7...

ey0015.5-8 | Fractures, vitamin D and steroids – unclear associations | ESPEYB15

5.8 Association Between Inhaled Corticosteroid Use and Bone Fracture in Children with Asthma

N Gray , A Howard , J Zhu , LY Feldman , T To

To read the full abstract: JAMA Pediatr 2018;172:57-64Corticosteroids are a well-known risk factor for compromised bone health. There have been concerns regarding the use of inhaled corticosteroids in children with asthma. It is often stated that poor disease control is a greater risk for bones than the medication itself. The evidence however has not been overwhelming. Corticosteroids ...

ey0019.7-1 | Clinical Guidance | ESPEYB19

7.1. Whole exome sequencing identifies deleterious rare variants in CCDC141 in familial self-limited delayed puberty

T Saengkaew , G Ruiz-Babot , A David , A Mancini , K Mariniello , CP Cabrera , MR Barnes , L Dunkel , L Guasti , SR Howard

NPJ Genom Med. 2021 Dec 20;6(1):107. doi: 10.1038/s41525-021-00274-w. PMID: 34930920 Summary: This cross-sectional study describes the genetic data of a cohort of patients with self-limited delayed puberty, finding a high prevalence of CCDC141 gene mutations. Usi...

ey0019.7-2 | Clinical Guidance | ESPEYB19

7.2. Genetic evaluation supports differential diagnosis in adolescent patients with delayed puberty

T Saengkaew , HR Patel , K Banerjee , G Butler , MT Dattani , M McGuigan , HL Storr , RH Willemsen , L Dunkel , SR Howard

Eur J Endocrinol. 2021 Oct 8;185(5):617-627. doi: 10.1530/EJE-21-0387. PMID: 34403359. Summary: This study investigates the role of Whole Exome Sequencing in the differential diagnosis of delayed puberty, evaluating a geno...

ey0016.7-5 | Genetics of Puberty | ESPEYB16

7.5. EAP1 regulation of GnRH promoter activity is important for human pubertal timing

A Mancini , SR Howard , CP Cabrera , MR Barnes , A David , K Wehkalampi , S Heger , A Lomniczi , L Guasti , SR Ojeda , L Dunkel

To read the full abstract: Hum Mol Genet. 2019 Apr 15;28(8):1357–1368.This whole-exome study from a large cohort of familial self-limited delayed puberty identifies the first EAP1 mutations leading to reduced GnRH transcriptional activity and resulting in a phenotype of self-limited delayed-puberty.Enhanced at puberty 1 (EAP1) is a nuclear trans...

ey0020.13-10 | Section | ESPEYB20

13.10. Race-dependent association of high-density lipoprotein cholesterol levels with incident coronary artery disease

NA Zakai , J Minnier , MM Safford , I Koh , MR Irvin , S Fazio , M Cushman , VJ Howard , N Pamir

In Brief: In this US cohort study of 30,239 Black and White individuals aged >=45 years followed up for a median of 10 years, low baseline levels of HDL-Cholesterol (HDL-C) were associated with increased risk of coronary heart disease (CHD) in White (HR: 1.22; 95% CI: 1.05–1.43) but not in Black (HR: 0.94; 95% CI: 0.78–1.14) adults (P-interaction by race =0.08).Comment: The established clinical risk factors for coronary heart disea...

ey0016.7-4 | Genetics of Puberty | ESPEYB16

7.4. HS6ST1 insufficiency causes self-limited delayed puberty in contrast with other GnRH deficiency genes

SR Howard , R Oleari , A Poliandri , V Chantzara , A Fantin , G Ruiz-Babot , LA Metherell , CP Cabrera , MR Barnes , K Wehkalampi , L Guasti , C Ruhrberg , A Cariboni , L Dunkel

To read the full abstract: J Clin Endocrinol Metab. 2018 Sep 1;103(9):3420–3429.This whole-exome study in 67 probands and 93 relatives from a large cohort of familial delayed puberty identifies a new heterozygous HS6ST1 mutation as a novel cause of delayed puberty.The underlying pathophysiology of early and delayed puberty remains unexplained in most ...

ey0015.5-7 | Fractures, vitamin D and steroids – unclear associations | ESPEYB15

5.7 Vitamin D and Fracture Risk in Early Childhood: A Case-Control Study

LN Anderson , SW Heong , Y Chen , KE Thorpe , K Adeli , A Howard , E Sochett , CS Birken , PC Parkin , JL Maguire , TARGet Kids Collaboration

To read the full abstract: Am J Epidemiol 2017;185:1255-1262Vitamin D and adequate dietary calcium intake are important for skeletal health and therefore it was expected that vitamin D concentration would be associated with increased fracture risk. However, here, the authors did not find any statistically significant association between concurrent 25(OH)D concentration and fracture risk. In addition...

ey0015.7-9 | Genetic architecture of hypogonadotropic hypogonadism and delayed puberty | ESPEYB15

7.9 Contributions of Function-Altering Variants in Genes Implicated in Pubertal Timing and Body Mass for Self-Limited Delayed Puberty

SR Howard , L Guasti , A Poliandri , A David , CP Cabrera , MR Barnes , K Wehkalampi , S O'Rahilly , CE Aiken , AP Coll , M Ma , D Rimmington , GSH Yeo , L Dunkel

To read the full abstract: J Clin Endocrinol Metab. 2018 Feb 1;103(2):649-659A minimum level of energy availability is required for the onset of puberty, whereas increased fat mass has been shown to be associated with precocious onset of puberty1,2. Recent genome-wide association studies have identified several loci for age at menarche also associated with obesity3-5. Whethe...

ey0017.15-11 | (1) | ESPEYB17

15.11. Targeting a ceramide double bond improves insulin resistance and hepatic steatosis

B Chaurasia , TS Tippetts , R Mayoral Monibas , J Liu , Y Li , L Wang , JL Wilkerson , CR Sweeney , RF Pereira , DH Sumida , JA Maschek , JE Cox , V Kaddai , GI Lancaster , MM Siddique , A Poss , M Pearson , S Satapati , H Zhou , DG McLaren , SF Previs , Y Chen , Y Qian , A Petrov , M Wu , X Shen , J Yao , CN Nunes , AD Howard , L Wang , MD Erion , J Rutter , WL Holland , DE Kelley , SA Summers

To read the full abstract: Science 2019;365:386–392.By genetically engineering mice, the authors deleted the enzyme dihydroceramide desaturase 1 (DES1), which normally inserts a conserved double bond into the backbone of ceramides. Ablation of DES1 from whole animals or tissue-specific deletion in the liver and/or adipose tissue resolved hepatic steatosis and insulin resistance in mice caused by leptin deficiency or obesogenic diets<p c...