ISSN 1662-4009 (online)

ey0020.3-19 | Advances in Growth, Bone Biology, and Mineral Metabolism | ESPEYB20

3.19. The synovial microenvironment suppresses chondrocyte hypertrophy and promotes articular chondrocyte differentiation

M Chau , Z Dou , M Baroncelli , EB Landman , A Bendre , M Kanekiyo , A Gkourogianni , K Barnes , L Ottosson , O Nilsson

In Brief: Growth plate and articular cartilage have similar structures composed of distinct chondrocyte layers but they differ substantially with respect to their function and fate. This study combines transplantation experiments with cell tracing in rat with in vitrostudies to identify a novel mechanism by which synoviocytes act directly on chondrocytes to suppress endochondral and promote articular cartilage at the joint surface.Commentary: Gr...

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 ...

ey0015.7-9 | 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...