ISSN 1662-4009 (online)

ey0017.14-15 | (1) | ESPEYB17

14.15. Fecal microbiota transplantation for the improvement of metabolism in obesity: The FMT-TRIM double-blind placebo-controlled pilot trial

EW Yu , L Gao , P Stastka , MC Cheney , J Mahabamunuge , M Torres Soto , CB Ford , JA Bryant , MR Henn , EL Hohmann

To read the full abstract: PLoS Med. 2020 Mar 9;17(3):e1003051. doi: 10.1371/journal.pmed.1003051.The authors describe a 12-week long randomised controlled trial of weekly oral fecal microbiota transplantation capsules, derived from healthy lean donors, given to 24 adults with obesity and mild–moderate insulin resistance. Despite evidence of successful microbiota engraftment in r...

ey0016.1-4 | New Mechanisms | ESPEYB16

1.4. Estrogen signaling in arcuate Kiss1 neurons suppresses a sex-dependent female circuit promoting dense strong bones

CB Herber , WC Krause , L Wang , JR Bayrer , A Li , M Schmitz , A Fields , B Ford , Z Zhang , MS Reid , DK Nomura , RA Nissenson , SM Correa , HA Ingraham

To read the full abstract: Nat Commun 2019;10:163.Central estrogen signaling via estrogen receptor alpha (ERα) coordinates energy expenditure, reproduction and, in concert with peripheral estrogen, impacts skeletal homeostasis. Here, the authors showed that eliminating ERα in kisspeptin arcuate nucleus neurons resulted in high bone mass phenotype in female mice only.<p clas...

ey0016.2-1 | Neonatal Hypoglycaemia | ESPEYB16

2.1. Congenital hyperinsulinism in infants with turner syndrome: possible association with monosomy X and KDM6A haploinsufficiency

CE Gibson , KE Boodhansingh , C Li , L Conlin , P Chen , SA Becker , T Bhatti , V Bamba , NS Adzick , DD De Leon , A Ganguly , CA Stanley

To read the full abstract: Horm Res Paediatr: 2018;89(6):413–422.This study examined the clinical and molecular aspects of girls with Turner syndrome and hyperinsulinaemic hypoglycemia (HH). Records of girls with hyperinsulinism and Turner syndrome were reviewed.The findings expand on previous observations suggesting a link between Turner syndrome and hyperins...

ey0016.2-16 | Fetal and Neonatal Cortisol Physiology | ESPEYB16

2.16. Characterization of human adrenal steroidogenesis during fetal development

C Melau , JE Nielsen , H Frederiksen , K Kilcoyne , S Perlman , L Lundvall , LL Thuesen , K Juul Hare , AM Andersson , RT Mitchell , A Juul , A Jorgensen

J Clin Endocrinol Metab. 2018 Dec 21. [Epub ahead of print]. doi: 10.1210/jc.2018-01759.This study aimed to investigate Human fetal adrenal (HFA) steroidogenesis by analyzing adrenal glands from 1st and 2nd trimester. Steroidogenesis in the HFA is tightly regulated throughout the first and second trimesters, which is crucial because the adrenal steroid hormones affect the overall intrauterine endocri...

ey0016.3-9 | Congenital Hypothyroidism | ESPEYB16

3.9. Early determinants of thyroid function outcomes in children with congenital hypothyroidism and a normally located thyroid gland: a regional Cohort Study

C Saba , S Guilmin-Crepon , D Zenaty , L Martinerie , A Paulsen , D Simon , C Storey , S Dos Santos , J Haignere , D Mohamed , JC Carel , J Leger

To read the full abstract: Thyroid. 2018;28:959–67.This observational single center study aimed to identify predictors of transient versus permanent congenital hypothyroidism in patients with thyroid gland in situ diagnosed at birth. Strengths of the study are the prospectively documented clinical, biochemical and radiological parameters, the high inclusion rate, a...

ey0016.3-13 | Graves’ Disease | ESPEYB16

3.13. Adjuvant rituximab, a potential treatment for the young patient with Graves' hyperthyroidism (RiGD): study protocol for a single-arm, single-stage, phase II trial

M Cole , AM Hynes , D Howel , L Hall , M Abinun , A Allahabadia , T Barrett , K Boelaert , AJ Drake , P Dimitri , J Kirk , N Zammitt , S Pearce , T Cheetham

To read the full abstract: BMJ Open. 2019;9:e024705.This protocol paper describes an innovative phase II trial to study the effect of a single low dose of adjuvant rituximab (a chimeric anti-B-cell monoclonal antibody targeting the surface molecule CD20) compared to classical carbimazole therapy in adolescents and young adults with Graves’ disease. Carbimazole treatment will be stop...

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...

ey0016.5-4 | New Insight into Rare Skeletal Disorders | ESPEYB16

5.4. Vitamin D-binding protein deficiency and homozygous deletion of the GC gene

CM Henderson , SL Fink , H Bassyouni , B Argiropoulos , L Brown , TJ Laha , KJ Jackson , R Lewkonia , P Ferreira , AN Hoofnagle , JL Marcadier

Abstract: N Engl J Med. 2019;380(12):1150–1157. PMID: 30893535.In brief: Homozygous deletion of the group-specific component (GC) gene that encodes for vitamin D–binding protein causes persistently low measurable 25-hydroxy Vitamin D concentrations with no clinical features of rickets or osteomalacia.Comment: Vitamin D and ...

ey0016.6-1 | DSD New Paradigm | ESPEYB16

6.1. Oestrogen versus androgen in hormone-replacement therapy for complete androgen insensitivity syndrome: a multicentre, randomised, double-dummy, double-blind crossover trial

W Birnbaum , L Marshall , R Werner , A Kulle , PM Holterhus , K Rall , B Kohler , A Richter-Unruh , MF Hartmann , SA Wudy , MK Auer , A Lux , S Kropf , O Hiort

Lancet Diabetes Endocrinol. 2018 Oct;6(10):771–780.doi: 10.1016/S2213-8587(18)30197-9.For the first time a prospective randomized treatment study has been performed for individuals with a DSD. This national multi-center, double-blind, randomized, cross-over trial compared estrogen therapy to androgen replacement in complete androgen insensitivity syndrome ...

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...