ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 1 of about 14 results

ey0015.3-10 | Graves’ disease | ESPEYB15

3.10 Long-term outcome of thyrotoxicosis in childhood and adolescence in the west of Scotland: the case for long-term antithyroid treatment and the importance of initial counselling

M Kourime , S McGowan , M Al Towati , SF Ahmed , G Stewart , S Williamson , I Hunter , MDC Donaldson

To read the full abstract: Arch Dis Child 2018;103:637-642Management of thyrotoxicosis in children and adolescents remains challenging and treatment varies considerably among institutions. The patient’s age, clinical status and likelihood of remission should be considered when counseling patients and parents. Nevertheless, individual prognosis of antithyroid drug treated Graves’ diseas...
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ey0015.13-17 | Advances in the Diagnosis and Management of Congenital Hypothyroidism | ESPEYB15

13.17 Assessment of knowledge, attitudes and practices towards newborn screening for congenital hypothyroidism before and after a health education intervention in pregnant women in a hospital setting in Pakistan

B Tariq , A Ahmed , A Habib , A Turab , N Ali , SB Soofi , S Nooruddin , RJ Kumar , A Tariq , F Shaheen , S Ariff

To read the full abstract: Int Health 2018; 10(2):100-107This article addresses the important issue of acceptance of the congenital screening for congenital hypothyroidism (CH) by the population in general and the families in particular. While it is usually obvious for the health professional that screening for CH is beneficial to the potentially affected neonate, culture, level of education, ...
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ey0018.1-15 | Clinical/Translational | ESPEYB18

1.15. Clinical outcomes and complications of pituitary blastoma

APY Liu , MM Kelsey , N Sabbaghian , SH Park , CL Deal , AJ Esbenshade , O Ploner , A Peet , H Traunecker , YHE Ahmed , M Zacharin , A Tiulpakov , AM Lapshina , AW Walter , P Dutta , A Rai , M Korbonits , L de Kock , KE Nichols , WD Foulkes , JR Priest

J Clin Endocrinol Metab. 2021 Jan 23;106(2):351–363. doi: 10.1210/clinem/dgaa857. PMID: 33236116.Here, the authors report the long−term outcomes of all 17 known, well−investigated cases of pituitary blastoma. The median age at diagnosis was 11 months, and the most frequent presentations were Cushing syndrome (n=10), cranial nerve palsies including ophthalmoplegia (...
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ey0018.6-12 | Reviews with Clinical Impact for DSD Care | ESPEYB18

6.12. Peptide hormone analysis in diagnosis and treatment of Differences of Sex Development: joint position paper of EU COST Action 'DSDnet' and European Reference Network on Rare Endocrine Conditions

TH Johannsen , AM Andersson , SF Ahmed , YB de Rijke , RF Greaves , MF Hartmann , O Hiort , PM Holterhus , NP Krone , A Kulle , ML Ljubicic , G Mastorakos , J McNeilly , AM Pereira , A Saba , SA Wudy , KM Main , A Juul

Eur J Endocrinol. 2020 Jun;182(6):P1–P15. doi: 10.1530/EJE-19-0831. PMID: 32268295.This paper describes the concerted efforts of the EU COST Action DSDNet and the European network for rare endocrine diseases Endo-ERN. A total of 33 laboratories were involved and they describe state of the art assessments of the peptide hormones: follicle-stimulating hormone (FSH), luteinizing hormone (LH)...
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ey0019.6-1 | Sex Hormone Replacement Therapies in DSD | ESPEYB19

6.1. Pubertal induction and transition to adult sex hormone replacement in patients with congenital pituitary or gonadal reproductive hormone deficiency: an Endo-ERN clinical practice guideline

A Nordenstrom , SF Ahmed , den Akker E van , J Blair , M Bonomi , C Brachet , LHA Broersen , der Grinten HL Claahsen-van , AB Dessens , A Gawlik , CH Gravholt , A Juul , C Krausz , T Raivio , A Smyth , P Touraine , D Vitali , OM Dekkers

Eur J Endocrinol. 2022 Apr 21;186(6):G9-G49. PMID: 35353710, doi: 10.1530/EJE-22-0073.Brief Summary: This Endo-European Reference Network guideline was endorsed by the European Society for Pediatric Endocrinology, the European Society for Endocrinology, and the European Academy of Andrology. It provides extensive data on the hormonal management in young individuals with hypogonadism or DSD in nee...
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ey0019.6-3 | Co-morbidities associated with DSD | ESPEYB19

6.3. Vascular dysfunction and increased cardiovascular risk in hypospadias

AK Lucas-Herald , AC Montezano , R Alves-Lopes , L Haddow , M Alimussina , S O'Toole , M Flett , B Lee , SB Amjad , M Steven , K Brooksbank , L McCallum , C Delles , S Padmanabhan , SF Ahmed , RM Touyz

Eur Heart J. 2022 Mar 17:ehac112. PMID: 35296881, doi: 10.1093/eurheartj/ehac112.Brief Summary: This translational study explored the molecular and cellular mechanisms whereby testosterone impacts vascular function. The findings suggest that hypospadias is associated with vascular dysfunction and represents a risk factor for hypertension and cardiovascular disease in adulthood due to impair...
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ey0017.6-3 | Differences/Disorders of Sex Development: A DSDnet Pape | ESPEYB17

6.3. Peptide hormone analysis in diagnosis and treatment of differences of sex development: Joint position paper of EU COST action ‘DSDnet’ and european reference network on rare endocrine conditions

TH Johannsen , AM Andersson , SF Ahmed , YB de Rijke , RF Greaves , MF Hartmann , O Hiort , PM Holterhus , NP Krone , A Kulle , ML Ljubicic , G Mastorakos , J McNeilly , AM Pereira , A Saba , SA Wudy , KM Main , A Juul

To read the full abstract: Eur J Endocrinol. 2020, Jun; 182: P1–p15; doi: https://eje.bioscientifica.com/downloadpdf/journals/eje/182/6/EJE-19-0831.pdfDiagnosis and monitoring of therapies for DSD patients require clinical, biochemical and genetic assessments. Biochemical analyses comprise the measurements of peptide and steroid hormones. This positi...
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ey0019.6-4 | Co-morbidities associated with DSD | ESPEYB19

6.4. Growth, puberty and testicular function in boys born small for gestational age with a nonspecific disorder of sex development

LJW Tack , der Straaten S van , S Riedl , A Springer , PM Holterhus , NC Hornig , Z Kolesinska , M Niedziela , F Baronio , A Balsamo , SE Hannema , A Nordenstrom , S Poyrazoglu , FF Darendeliler , R Grinspon , R Rey , F Aljuraibah , J Bryce , F Ahmed , R Tadokoro-Cuccaro , I Hughes , G Guaragna-Filho , AT Maciel-Guerra , G Guerra-Junior , M Cools

Clin Endocrinol (Oxf). 2022 Feb;96(2):165-174. PMID: 34668586, doi: 10.1111/cen.14614.Brief Summary: This retrospective case-control study used data from the international DSD registry to investigate the long-term outcomes of males born small for gestational age (SGA) with hypospadias/DSD. A large cohort of 179 boys (115 males born SGA; 64 appropriate for gestational age) was investigated for growt...
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ey0019.15-3 | Obesity | ESPEYB19

15.3. Obesity-associated GNAS mutations and the melanocortin pathway

E Mendes de Oliveira , JM Keogh , F Talbot , E Henning , R Ahmed , A Perdikari , R Bounds , N Wasiluk , V Ayinampudi , I Barroso , J Mokrosinski , D Jyothish , S Lim , S Gupta , M Kershaw , C Matei , P Partha , T Randell , A McAulay , LC Wilson , T Cheetham , EC Crowne , P Clayton , IS Farooqi

N Engl J Med. 2021;385(17):1581-92. doi: 10.1056/NEJMoa2103329.PubMed ID: 34614324Brief Summary: The authors performed whole exome sequencing in 2548 children with severe obesity and identified 22 GNAS mutation carriers, almost all of which disrupted melanocortin 4 receptor (MC4R) signaling.The gene GNAS encodes the stimulatory G-protein alpha subunit pr...
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ey0017.6-10 | Differences/Disorders of Sex Development: Clinical Studies | ESPEYB17

6.10. The external genitalia score (EGS): A European multicenter validation study

S Van der Straaten , A Springer , A Zecic , D Hebenstreit , U Tonnhofer , A Gawlik , M Baumert , K Szeliga , S Debulpaep , A Desloovere , L Tack , K Smets , M Wasniewska , D Corica , M Calafiore , ML Ljubicic , AS Busch , A Juul , A Nordenstrom , J Sigurdsson , CE Fluck , T Haamberg , S Graf , SE Hannema , KP Wolffenbuttel , O Hiort , SF Ahmed , M Cools

To read the full abstract: J Clin Endocrinol Metab. 2020, Mar 1; 105. doi: https://academic.oup.com/jcem/article-abstract/105/3/e222/5609091?redirectedFrom=fulltextThis cross-sectional study collected measures of genital development from 181 premature neonates, 378 term neonates, 308 babies up to 24 months, and in 111 babies with atypical geni...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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