ISSN 1662-4009 (online)

ey0017.15-8 | (1) | ESPEYB17

15.8. Arginine-stimulated copeptin measurements in the differential diagnosis of diabetes insipidus: A prospective diagnostic study

B Winzeler , N Cesana-Nigro , J Refardt , DR Vogt , C Imber , B Morin , M Popovic , M Steinmetz , CO Sailer , G Szinnai , I Chifu , M Fassnacht , M Christ-Crain

To read the full abstract: Lancet. 2019 Aug 17;394(10198):587–595. doi: 10.1016/S0140-6736(19)31255-3.These authors previously described that the measurement of copeptin, a peptide cleaved in the posterior pituitary from the protein precursor of vasopressin and stable in circulation, is an accurate tool to diagnose diabetes insipidus (DI; vasopressin insufficiency). However, the...

ey0016.3-16 | New Guidelines | ESPEYB16

3.16. 2018 European Thyroid Association (ETA) Guidelines on the diagnosis and management of central hypothyroidism

L Persani , G Brabant , M Dattani , M Bonomi , U Feldt-Rasmussen , E Fliers , A Gruters , D Maiter , N Schoenmakers , ASP van Trotsenburg

Eur Thyroid J. 2018;7:225-37. doi: 10.1159/000491388. Epub 2018 Jul 19https://www.ncbi.nlm.nih.gov/pubmed/30374425Diagnosis and treatment of central hypothyroidism are much more complex than for primary hypothyroidism. For the first time, guidelines summarize all the available evidence to provide a thorough state of...

ey0016.5-17 | Basic Science - Bone | ESPEYB16

5.17. Coupling of bone resorption and formation by RANKL reverse signalling

Y Ikebuchi , S Aoki , M Honma , M Hayashi , Y Sugamori , M Khan , Y Kariya , G Kato , Y Tabata , JM Penninger , N Udagawa , K Aoki , H Suzuki

Abstract: Nature. 2018 Sep;561(7722):195–200.In brief: This study used various cell-based methods and animal models to investigate the RANK-RANKL signaling pathway in bone homeostasis. The authors show for the first time, that reverse signaling exists from osteoclast to osteoblast and that vesicular RANK, secreted by the osteoclast, relays information to the osteoblast...

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 ...

ey0016.7-13 | Clinical Guidance | ESPEYB16

7.13. High prevalence of syndromic disorders in patients with non-isolated central precocious puberty

S Wannes , M Elmaleh-Berges , D Simon , D Zenaty , L Martinerie , C Storey , G Gelwane , A Paulsen , E Ecosse , N De Roux , JC Carel , J Leger

To read the full abstract: Eur J Endocrinol. 2018 Dec 1;179(6):373–380.This observational cohort study including children followed for central precocious puberty (CPP) in a single academic centre in Paris, France, identifies a large proportion of patients with complex disorders without structural hypothalamic lesions on MRI.Patients with CPP und...

ey0016.8-14 | New Hope | ESPEYB16

8.14. A report on state-wide implementation of newborn screening for X-linked adrenoleukodystrophy

K Wiens , SA Berry , H Choi , A Gaviglio , A Gupta , A Hietala , D Kenney-Jung , T Lund , W Miller , EI Pierpont , G Raymond , H Winslow , HA Zierhut , PJ Orchard

To read the full abstract: Am J Med Genet A. 2019; 179(7):1205–1213.X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder, with an estimated incidence in the USA of ~1:17,000 all births (male and female) and 1:21,000 male births. X-ALD is caused by mutations in the X chromosome gene ABCD1, which encodes the peroxisomal membrane protein, ATP-bin...

ey0016.10-7 | (1) | ESPEYB16

10.7. Worse metabolic control and dynamics of weight status in adolescent girls point to eating disorders in the first years after manifestation of type 1 diabetes mellitus: findings from the diabetes patienten verlaufsdokumentation registry

T Reinehr , B Dieris , A Galler , M Teufel , G Berger , R Stachow , S Golembowski , U Ohlenschlager , M Holder , M Hummel , RW Holl , N Prinz

To read the full abstract: J Pediatr. 2019;207:205–2129.Psychosocial issues and psychiatric disease are prevalent in young patients with type 1 diabetes (T1D). Most importantly, eating disorders, anxiety-related behavioral problems as well as depression have all been shown to occur (1). In a nationwide population-based survey, this group had previously reported on relationships betw...

ey0015.11-14 | Adipose tissue – a main source of miRNAs | ESPEYB15

11.14 Adipose Tissue Macrophage-Derived Exosomal miRNAs Can Modulate In Vivo and In Vitro Insulin Sensitivity

W Ying , M Riopel , G Bandyopadhyay , Y Dong , A Birmingham , J Bae Seo , J Ofrecio , J Wollam , A Hernandez-Carretero , W Fu , P Li , J Olefsky

To read the full abstract: Cell 2017, Volume 171, Issue 2Here, the group of Jerrold Olefsky identified adipose tissue macrophages as important sources of microRNAs regulating metabolic processes not only within the adipose tissue depot, but also in an endocrine way in other distant tissues. The application of exosomes derived from ATMs isolated from obese mice caused insulin resistance both ...

ey0020.1-6 | Congenital Hypothyroidism | ESPEYB20

1.6. Effect of initial levothyroxine dose on neurodevelopmental and growth outcomes in children with congenital hypothyroidism

A Esposito , MC Vigone , M Polizzi , MG Wasniewska , A Cassio , A Mussa , R Gastaldi , R Di Mase , G Vincenzi , C Pozzi , E Peroni , C Bravaccio , D Capalbo , D Bruzzese , M Salerno

Brief summary: Current guidelines for congenital hypothyroidism recommend a starting dose of 10–15 μg/d of levothyroxine for optimal treatment (1). Over the last years, some studies suggested that overtreatment of patients during infancy by high levothyroxine doses might have negative effects on neurocognitive and behavioral development (2). The presented multicenter prospective randomized trial aimed at comparing the effect of higher (12.5–15.0 μg/d levoth...

ey0020.2-3 | Important for Clinical Practice | ESPEYB20

2.3. Timing of puberty, pubertal growth, and adult height in short children born small for gestational age treated with growth hormone

EN Upners , LL Raket , JH Petersen , A Thankamony , E Roche , G Shaikh , J Kirk , H Hoey , SA Ivarsson , O Soder , A Juul , RB Jensen

Brief summary: In this study the authors reported the adult height and timing of puberty of a cohort of Danish children born small for gestational age (SGA) and treated with rhGH in comparison with national growth standards. rhGH treatment significantly increased height SDS in adulthood as compared to the height SDS at treatment start. Age at peak height velocity did not differ compared with the reference cohort, although peak height velocity was reduced in SGA subjects. SGA b...