ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 13 of about 668 results

ey0017.7-8 | Basic Science | ESPEYB17

7.8. Characterization of the human GnRH neuron developmental transcriptome using a GNRH1-TdTomato reporter line in human pluripotent stem cells

C Lund , V Yellapragada , S Vuoristo , D Balboa , S Trova , C Allet , N Eskici , K Pulli , P Giacobini , T Tuuri , T Raivio

To read the full abstract: Disease Models & Mechanisms vol. 13,3 dmm040105. 13 Mar. 2020. doi: https://dmm.biologists.org/content/13/3/dmm040105.longThese authors developed an in vitro model to study human GnRH neuron transcriptome during developmental differentiation. Gonadotropin-releasing hormone (GnRH) neurons in the hypothalamus govern t...
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ey0017.9-1 | Fertility-Related Issues | ESPEYB17

9.1. Anti-Mullerian hormone and Inhibin B after stem cell transplant in childhood: A comparison of myeloablative, reduced intensity and treosulfan-based chemotherapy regimens

A Leiper , M Houwing , EG Davies , K Rao , S Burns , E Morris , J Laven , AL van der Kooi , M van den Heuvel Eibrink , S Nussey

To read the full abstract: Bone Marrow Transplant. 2020 Apr 24. doi: 10.1038/s41409-020-0914-5. Epub ahead of print. a.leiper@nhs.netAnti-Müllerian hormone (AMH), secreted by granulosa cells of growing pre- and early antral ovarian follicles, reflects the reserve of primordial ovarian follicles at any time from birth to menopause. Serum AMH leve...
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ey0016.2-6 | Neonatal Diabetes Mellitus | ESPEYB16

2.6. Trisomy 21 is a cause of permanent neonatal diabetes that is autoimmune but not HLA associated

MB Johnson , E De Franco , W Atma , S Greeley , LR Letourneau , K Gillespie , International DS-PNDM consortium , MN Wakeling , S Ellard , SE Flanagan , KA Patel , AT Hattersley

To read the full abstract: Diabetes. 2019 Apr 8. pii: db190045. doi: 10.2337/db19-0045.This study assessed the incidence of permanent neonatal diabetes mellitus (PNDM) in patients with Trisomy 21.Patients with Trisomy 21 have an increased prevalence of autoimmune conditions, such as Type 1 diabetes, celiac disease, alopecia, vitiligo and autoimmune thyroid disorder...
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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...
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ey0016.4-3 | Important for Clinical Practice | ESPEYB16

4.3. High prevalence of growth plate gene variants in children with familial short stature treated with growth hormone

L Plachy , V Strakova , L Elblova , B Obermannova , S Kolouskova , M Snajderova , D Zemkova , P Dusatkova , Z Sumnik , J Lebl , S Pruhova

J Clin Endocrinol Metab. 2019 Feb. doi: 10.1210/jc.2018-02288. [Epub ahead of print]Short stature is the most common reason for referral to pediatric endocrinologists. Familial short stature (FSS) is used to describe a child with a stature below the normal but within the parental target range and with at least one short parent.In the last years, there has been a widesp...
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ey0016.5-19 | Basic Science - Mineral Metabolism | ESPEYB16

5.19. Eldecalcitol causes FGF23 resistance for Pi reabsorption and improves rachitic bone phenotypes in the male Hyp mouse

I Kaneko , H Segawa , K Ikuta , A Hanazaki , T Fujii , S Tatsumi , S Kido , T Hasegawa , N Amizuka , H Saito , KI Miyamoto

Abstract: Endocrinology, Volume 159, Issue 7, July 2018, Pages 2741–2758In brief: Eldecalcitol, a long acting active vitamin D3 analogue with lower affinity for vitamin D receptor and resistance to inactivation by vitamin D 24-hydroxylase, causes FGF23 resistance. This leads to complete restoration of renal phosphate transport and NaPi-2a protein levels and improves ra...
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ey0016.7-14 | Clinical Guidance | ESPEYB16

7.14. Pituitary deficiency and precocious puberty after childhood severe traumatic brain injury: a long-term follow-up prospective study

Y Dassa , H Crosnier , M Chevignard , M Viaud , C Personnier , I Flechtner , P Meyer , S Puget , N Boddaert , S Breton , M Polak

To read the full abstract: Eur J Endocrinol. 2019 May 1;180(5):281–290.This longitudinal prospective study of 61 children with a 5-10 years follow-up post severe traumatic brain injury evaluates the prevalence of pituitary deficiency and precocious puberty.In children, retrospective and prospective studies report variable rates of hypothyroidism...
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ey0016.8-13 | New Hope | ESPEYB16

8.13. GnRH antagonist treatment of malignant adrenocortical tumors

M Doroszko , M Chrusciel , J Stelmaszewska , T Slezak , S Anisimowicz , U Plockinger , M Quinkler , M Bonomi , S Wolczynski , I Huhtaniemi , J Toppari , NA Rahman

To read the full abstract: Endocr Relat Cancer. 2019; 26(1): 103–117.Incidence of adrenocortical carcinomas shows a bimodal distribution, being more common in children <10 years and in adults aged 40–50 years. Their prognosis is poor, with only 10–25% 5-year survival. Ectopic expression of LHCGR and GNRHR has been reported in ACTH-independent adrenal hyperplasia ...
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ey0015.2-5 | Atypical forms of congenital hyperinsulinism are associated with increased expression of the transcription factor NKX2.2 and increased numbers of somatostain secreting cells | ESPEYB15

Atypical forms of congenital hyperinsulinism are associated with increased expression of the transcription factor NKX2.2 and increased numbers of somatostain secreting cells

B Han , Z Mohamed , MS Estebanez , RJ Craigie , M Newbould , E Cheesman , R Padidela , M Skae , M Johnson , S Flanagan , S Ellard , KE Cosgrove , I Banerjee , MJ Dunne

To read the full abstract: J Clin Endocrinol Metab. 2017 Sep 1;102(9):3261-3267At a histological level congenital hyperinsulinism (CHI) is classified into three forms, namely diffuse, focal and atypical. The atypical forms display histological mosacism (heterogeneous populations of islets, which appear to be resting or quiescent and localized to particular domains/lobes of the pancreas) but the m...
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ey0015.9-14 | Bone health monitoring in chronic disease: broaden existing knowledge | ESPEYB15

9.14 Structural basis of bone fragility in young subjects with inflammatory bowel disease: a high-resolution pQCT study of the SWISS IBD Cohort (SIBDC)

J Pepe , S Zawadynski , FR Herrmann , P Juillerat , P Michetti , S Ferrari-Lacraz , D Belli , O Ratib , R Rizzoli , T Chevalley , SL Ferrari

To read the full abstract: Inflamm Bowel Dis. 2017;23:1410-1417This cross-sectional study analyzed bone health status by high-resolution peripheral quantitative computed tomography (HRpQTC) of a Swiss Cohort of young patients with inflammatory bowel disease (IBD) in comparison to healthy controls, matched for sex, age, height and fracture history. The results showed subtle abnormalities in...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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