ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 1 of about 10 results

ey0017.3-8 | Congenital hypothyroidism | ESPEYB17

3.8. Thyrocyte cell survival and adaptation to chronic endoplasmic reticulum stress due to misfolded thyroglobulin

Y Morishita , O Kabil , KZ Young , AP Kellogg , A Chang , P Arvan

To read the full abstract: J Biol Chem. 2020;295:6876–6887.In this experimental study, Morishita et al. developed a CRISPR/Cas-9 mediated cell model to investigate the molecular effects of thyroglobulin (TG) accumulation in the endoplasmatic reticulum (ER) of thyrocytes, as is observed in the context of dyshormonogenic CH caused by TG gene mutations. TG accumulation in the ER is a result of TG mutations altering t...
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ey0017.4-9 | New perspectives | ESPEYB17

4.9. Growth hormone deficiency and excess alter the gut microbiome in adult male mice

EA Jensen , JA Young , Z Jackson , J Busken , EO List , RK Carroll , JJ Kopchick , ER Murphy , DE Berryman

To read the full abstract: Endocrinology, April 2020, 161(4):1–18The aim of this study was to examine the role of growth hormone (GH) on gut microbiome and intestinal phenotype by using two animal models characterized by an opposite GH status: GH gene-disrupted (GH-/-) mice, characterized by GH deficiency; and bovine GH transgenic (bGH) mice with chronic GH excess. The abundance of common bacterial genera, such as Parasutterella, Ruminococc...
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ey0018.2-15 | Gestational Diabetes Mellitus: Neonatal and Long-term Consequences | ESPEYB18

2.15. Gestational diabetes Is uniquely associated with altered early seeding of the infant gut microbiota

TK Soderborg , CM Carpenter , RC Janssen , TL Weir , CE Robertson , D Ir , BE Young , NF Krebs , TL Hernandez , LA Barbour , DN Frank , M Kroehl , JE Friedman

Front Endocrinol (Lausanne). 2020 Nov 27;11:603021. doi: 10.3389/fendo.2020.603021. PMID: 33329403.This and previous studies have shown that Gestational diabetes mellitus (GDM) alone and maternal obesity/overweight are associated with alterations in the newborn gut microbiota. In this study, there were significant alterations in the newborn gut microbiota species at 2 weeks of age.<p...
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ey0018.7-6 | Clinical Guidance | ESPEYB18

7.6. GnRH stimulation testing and serum inhibin B in males: insufficient specificity for discriminating between congenital hypogonadotropic hypogonadism from constitutional delay of growth and puberty

H Mosbah , C Bouvattier , L Maione , S Trabado , G De Filippo , A Cartes , A Donzeau , P Chanson , S Brailly-Tabard , AA Dwyer , R Coutant , J Young

Hum Reprod. 2020 Oct 1;35(10):2312–2322. 10.1093/humrep/deaa185. PMID: 32862222. https://academic.oup.com/humrep/article/35/10/2312/5899242In brief: This study shows that both the GnRH stimulation test and serum inhibin B have insufficient specificity to discriminate congenital hypogonadotropic hypogonadism (CHH) from c...
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ey0015.14-15 | Nurtured by our parent’s genes | ESPEYB15

14.15 The nature of nurture: Effects of parental genotypes

A Kong , G Thorleifsson , ML Frigge , BJ Vilhjalmsson , AI Young , TE Thorgeirsson , S Benonisdottir , A Oddsson , BV Halldorsson , G Masson , DF Gudbjartsson , A Helgason , G Bjornsdottir , U Thorsteinsdottir , K Stefansson

To read the full abstract: Science 2018;359:424-428This ground-breaking study shows that your genetic make-up may influence your appearance, behaviour and health risks, not only by acting directly on your biology, but also indirectly, through the effects on your parents and how they cared and “nurtured” you. Such parental effects are obvious for very early life traits, su...
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ey0018.14-7 | (1) | ESPEYB18

14.7. Inherent mosaicism and extensive mutation of human placentas

Coorens Tim H H , Oliver Thomas R W , Sanghvi Rashesh , Sovio Ulla , Cook Emma , Vento-Tormo Roser , Haniffa Muzlifah , Young Matthew D , Rahbari Raheleh , Sebire Neil , Campbell Peter J , Charnock-Jones D Stephen , Smith Gordon CS , Behjati Sam

Nature 2021; 592: 80–85https://www.nature.com/articles/s41586-021-03345-1These authors performed whole-genome sequencing (WGS) of 86 bulk placental samples and of 106 microdissections of placental tissue in order to reconstruct the development of human placental cells from data on somatic mutations. They found that the placenta comprises of multiple very large, genetically dis...
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ey0018.15-16 | (1) | ESPEYB18

15.16. The effects of 20-kDa human placental GH in male and female GH-deficient mice: an improved human GH?

List Edward O , Berryman Darlene E , Basu Reetobrata , Buchman Mathew , Funk Kevin , Kulkarni Prateek , Duran-Ortiz Silvana , Qian Yanrong , Jensen Elizabeth A , Young Jonathan A , Yildirim Gozde , Yakar Shoshana , Kopchick John J

Endocrinology 2020 Aug 1;161(8):bqaa097.https://bit.ly/3zqg6c5This study, in a GH-deficient mouse model, shows that a 20-kDa variant of placental GH (20k-GH-V) retains the growth-promoting effects of normal pituitary-derived GH (GH-N), but with the advantages of having no diabetogenic or prolactin receptor (PRLR)-mediated tumour-promoting effects.One of the first described actions of GH...
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ey0017.1-1 | Update on the Genetics of Hypopituitarism | ESPEYB17

1.1. Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation

LC Gregory , CB Ferreira , SK Young-Baird , HJ Williams , M Harakalova , G van Haaften , SA Rahman , C Gaston-Massuet , D Kelberman , Sgene GO , W Qasim , SA Camper , TE Dever , P Shah , ICAF Robinson , MT Dattani

To read the full abstract: EBioMedicine. 2019 Apr;42:470–480. doi: 10.1016/j.ebiom.2019.03.013. Epub 2019 Mar 14. PMID: 30878599.Is everyone familiar with the MEHMO syndrome (OMIM #300148)? MEHMO is an acronym for mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity. Previous studies show that patients with MEHMO carrying hemizygous se...
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ey0021.14-2 | Basic Biology and Molecular Mechanisms | ESPEYB21

14.2. Human fertilization in vivo and in vitro requires the CatSper channel to initiate sperm hyperactivation

S Young , C Schiffer , A Wagner , J Patz , A Potapenko , L Herrmann , V Nordhoff , T Pock , C Krallmann , B Stallmeyer , A Ropke , M Kierzek , C Biagioni , T Wang , L Haalck , D Deuster , JN Hansen , D Wachten , B Risse , HM Behre , S Schlatt , S Kliesch , F Tuttelmann , C Brenker , T. Strunker

Short summary: This study examined ex vivo the function of the sperm-specific CatSper-channel in almost 2300 men undergoing investigation for infertility. In 9 infertile men with normal semen analysis but pathologic sperm motility, biallelic variants in genes forming the CatSper-channel were found, either in CATSPER2 or CATSPERE. These men and their partners failed to conceive naturally and medically assisted reproduction (MAR) was successful only via intracytoplasmic...
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ey0021.8-10 | Important for Clinical Practice | ESPEYB21

8.10. Management of phaeochromocytoma and paraganglioma in patients with germline SDHB pathogenic variants: an international expert consensus statement

D Taieb , S Nolting , ND Perrier , M Fassnacht , JA Carrasquillo , AB Grossman , R Clifton-Bligh , GB Wanna , ZG Schwam , L Amar , I Bourdeau , RT Casey , J Crona , CL Deal , J Del Rivero , QY Duh , G Eisenhofer , T Fojo , HK Ghayee , AP Gimenez-Roqueplo , AJ Gill , R Hicks , A Imperiale , A Jha , MN Kerstens , RR de Krijger , A Lacroix , I Lazurova , FI Lin , C Lussey-Lepoutre , ER Maher , O Mete , M Naruse , N Nilubol , M Robledo , F Sebag , NS Shah , A Tanabe , GB Thompson , HJLM Timmers , J Widimsky , Jr Young WJ , L Meuter , JWM Lenders , K Pacak

Brief Summary: The management of phaeochromocytomas and paragangliomas in patients with pathogenic variants of succinate dehydrogenase complex iron sulfur subunit B ( SDHD ) gene is complex. An international group of experts performed a critical review of the evidence to produce this consensus statement to assist clinical decision-making.Comment: Pathogenic variants in succinate dehydrogenase complex iron sulfur subunit B ( SDHD ) gene ...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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