ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 1 of about 15 results

ey0019.4-4 | Important for clinical practice | ESPEYB19

4.4. Effects of growth hormone treatment on sleep-related parameters in adults with Prader-Willi syndrome

HH Shukur , L Hussain-Alkhateeb , Farholt S , O Norregaard , AP Jorgensen , C Hoybye

The Journal of Clinical Endocrinology & Metabolism, 2021, Vol. 106, No. 9, e3634–e3643PMID: 33950234Brief Summary: This trial explored the effects of rhGH treatment in patients with Prader-Willi syndrome (PWS) on respiratory and sleep parameters. The trial was randomized and placebo-controlled for 1 year, followed by a 2-year, open-phase GH treatment period. Polysomnography performed every 6 months revealed no adverse effects of rhGH tr...
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ey0019.15-8 | Assorted Conditions | ESPEYB19

15.8. Serum testosterone levels in 3-month-old boys predict their semen quality as young adults

Henriksen L Scheutz , Petersen J Holm , NE Skakkebaek , N Jorgensen , HE Virtanen , L Priskorn , A Juul , J Toppari , KM Main

J Clin Endocrinol Metab. 2022;107(7):1965-75. doi: 10.1210/clinem/dgac173.PubMed ID: 35323957Brief summary: This population-based birth cohort study related infancy serum testosterone concentrations at age 3 months to parameters of reproductive function at age 18 to 20 years in 259 males. Serum testosterone in infancy predicted adult total sperm counts, and other reproductive hormones and geni...
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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...
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ey0016.8-11 | New Genes | ESPEYB16

8.11. Susceptibility to corticosteroid-induced adrenal suppression: a genome-wide association study

DB Hawcutt , B Francis , DF Carr , AL Jorgensen , P Yin , N Wallin , N O'Hara , EJ Zhang , KM Bloch , A Ganguli , B Thompson , L McEvoy , M Peak , AA Crawford , BR Walker , JC Blair , J Couriel , RL Smyth , M Pirmohamed

To read the full abstract: Lancet Respir Med. 2018; 6(6): 442–450.Inhaled corticosteroids (ICS) are widely used by patients with asthma or chronic obstructive pulmonary disease (COPD). Although ICS are generally well tolerated and have fewer systemic adverse effects than oral corticosteroids, some patients develop systemic adverse effects. Adrenal suppression is a clinically i...
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ey0015.8-6 | Important for Clinical Practice | ESPEYB15

8.6 Susceptibility to corticosteroid-induced adrenal suppression: a genome-wide association study

DB Hawcutt , B Francis , DF Carr , AL Jorgensen , P Yin , N Wallin , N O'Hara , EJ Zhang , KM Bloch , A Ganguli , B Thompson , L McEvoy , M Peak , AA Crawford , BR Walker , JC Blair , J Couriel , RL Smyth , M Pirmohamed

To read the full abstract: Lancet Respir Med. 2018 Mar 15. pii: S2213-2600(18)30058-4Inhaled corticosteroids (ICS) are recommended for adults and children with asthma, as well as for chronic obstructive pulmonary disease (COPD). Although ICS are generally well-tolerated and have fewer systemic adverse effects than oral corticosteroids, some patients still develop systemic adverse effects....
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ey0018.6-2 | Basic and Genetic Research of DSD | ESPEYB18

6.2. Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (WT1) gene

C Eozenou , N Gonen , MS Touzon , A Jorgensen , SA Yatsenko , L Fusee , AK Kamel , B Gellen , G Guercio , P Singh , S Witchel , AJ Berman , R Mainpal , M Totonchi , A Mohseni Meybodi , M Askari , T Merel-Chali , J Bignon-Topalovic , R Migale , M Costanzo , R Marino , P Ramirez

Proc Natl Acad Sci USA. 2020 Jun 16;117(24):13680–13688. 10.1073/pnas.1921676117. PMID: 32493750.On the search for a genetic cause for 46,XX virilization due to testicular (TDSD) or ovotesticular DSD (OTDSD), 78 individuals were studied by whole exome sequencing. In 7 cases, heterozygous de novo variants were found in the 4th zinc finger (ZF4) of the Wilms tumor 1 gene (<em...
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ey0018.8-10 | New Genes | ESPEYB18

8.10. GWAS for autoimmune addison's disease identifies multiple risk loci and highlights AIRE in disease susceptibility

D Eriksson , EC Royrvik , M Aranda-Guillen , AH Berger , N Landegren , H Artaza , AE Hallgren , MA Grytaas , S Strom , E Bratland , IR Botusan , BE Oftedal , L Breivik , M Vaudel , O Helgeland , A Falorni , AP Jorgensen , AL Hulting , J Svartberg , O Ekwall , KJ Fougner , J Wahlberg , BG Nedrebo , P Dahlqvist , PM Knappskog , ASB Wolff , S Bensing , S Johansson , O Kampe , ES Husebye

Nat Commun. 2021 Feb 11;12(1):959.https://pubmed.ncbi.nlm.nih.gov/33574239/The authors report a genome-wide association study (GWAS) of autoimmune Addison’s disease (AAD) in 1223 cases (defined as autoimmune adrenal failure plus positive serum autoantibodies against 21-hydroxylase) and 4097 healthy controls. Patients with APS-1 were identified and excluded. They identified 9 genome-wid...
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ey0017.6-8 | Differences/Disorders of Sex Development: Genetics | ESPEYB17

6.8. Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

K McElreavey , A Jorgensen , C Eozenou , T Merel , J Bignon-Topalovic , DS Tan , D Houzelstein , F Buonocore , N Warr , RGG Kay , M Peycelon , JP Siffroi , I Mazen , JC Achermann , Y Shcherbak , J Leger , A Sallai , JC Carel , L Martinerie , R Le Ru , GS Conway , B Mignot , L Van Maldergem , R Bertalan , E Globa , R Brauner , R Jauch , S Nef , A Greenfield , A Bashamboo

To read the full abstract: Genet Med. 2020, Jan; 22: 150-9. doi: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6944638/pdf/41436_2019_Article_606.pdfMassive parallel sequencing of 145 46,XY DSD patients revealed 13 individuals with heterozygous missense pathogenic variants in the RNA helicase DHX37, explaining 11% of cases of 46,XY gonadal d...
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ey0017.6-12 | Differences/Disorders of Sex Development: Clinical Studies | ESPEYB17

6.12. Clinical but not histological outcomes in males with 45,X/46,XY mosaicism vary depending on reason for diagnosis

ML Ljubicic , A Jorgensen , C Acerini , J Andrade , A Balsamo , S Bertelloni , M Cools , RT Cuccaro , F Darendeliler , CE Fluck , RP Grinspon , A Maciel-Guerra , T Guran , SE Hannema , AK Lucas-Herald , O Hiort , PM Holterhus , C Lichiardopol , LHJ Looijenga , R Ortolano , S Riedl , SF Ahmed , A Juul

To read the full abstract: J Clin Endocrinol Metab. 2019, Oct 1; 104: 4366–81. doi: https://www.ncbi.nlm.nih.gov/pubmed/31127831This retrospective observational study compared long-term health outcomes between 46,X/46,XY individuals diagnosed early in life due to genital anomalies (n =35) and those diagnosed later due other reasons (n =28). Data came from 16 clinic...
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ey0015.6-12 | Disorders of Sex Development: New paradigm | ESPEYB15

6.12 Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children

A Bashamboo , C Eozenou , A Jorgensen , J Bignon-Topalovic , JP Siffroi , C Hyon , A Tar , P Nagy , J Sólyom , Z Halász , A Paye-Jaouen , S Lambert , D Rodriguez-Buritica , R Bertalan , L Martinerie , E Rajpert-De Meyts , JC Achermann , K McElreavey

To read the full abstract: Am J Hum Genet. 2018 Mar 1;102(3):487-493See comment on 6.13...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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