ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 1 of about 8 results

ey0016.6-19 | Transgender Reviews | ESPEYB16

6.19 Management of endocrine disease: approach to the management of children and adolescents with gender dysphoria

L Martinerie , A Condat , A Bargiacchi , C Bremont-Weill , MC de Vries , SE Hannema

Eur J Endocrinol. 2018 Oct 12;179(5):R219–R237.doi: 10.1530/EJE-18-0227. PubMed ID: 30049812The rapidly increasing number of adolescents with gender dysphoria represents a challenge for psychiatric assessments and the endocrine management of those who are considered to warrant gender change. The diagnostics are more than complicated and the clinical management from ...
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ey0021.8-9 | Important for Clinical Practice | ESPEYB21

8.9. Consensus statement by the French Society of Endocrinology (SFE) and French Society of Pediatric Endocrinology & Diabetology (SFEDP) for the diagnosis of Cushing's syndrome: Genetics of Cushing's syndrome

L Martinerie , J Bouligand , MO North , J Bertherat , G Assie , S Espiard

Brief Summary: This brief and concise Consensus statement by the French Society of Endocrinology (SFE) and French Society of Pediatric Endocrinology & Diabetology (SFEDP), describes a systematic review and provides recommendations for the use of genetic screening in Cushing’s syndrome (CS).Comment: The etiology of CS may involve both germline genetic alterations (detectable in leukocyte DNA) and somatic mutations (present only in tumor DNA). Two...
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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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ey0016.7-13 | 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...
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ey0021.8-11 | Clinical Trials – New Treatments | ESPEYB21

8.11. Phase 3 Trial of Crinecerfont in Pediatric Congenital Adrenal Hyperplasia

K Sarafoglou , MS Kim , M Lodish , EI Felner , L Martinerie , NJ Nokoff , M Clemente , PY Fechner , MG Vogiatzi , PW Speiser , RJ Auchus , GBG Rosales , E Roberts , GS Jeha , RH Farber , JL Chan , Investigators Cahtalyst Pediatric Trial

Brief Summary: This phase 3, multinational, randomized clinical trial (CAHtalyst, NCT04806451) in pediatric patients with CAH, evaluated the efficacy of crinecerfont to improve androgen control and enable GC dose reduction to a physiological range.Comment: Congenital adrenal hyperplasia (CAH) comprises several rare autosomal recessive conditions resulting in disordered adrenal steroidogenesis. Pathogenic variants in the CYP21A2 gene encoding ste...
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ey0019.6-6 | Basic and Genetic Research of DSD | ESPEYB19

6.6. Expanding DSD phenotypes associated with variants in the DEAH-box RNA helicase DHX37

H Zidoune , L Martinerie , DS Tan , M Askari , D Rezgoune , A Ladjouze , A Boukri , Y Benelmadani , K Sifi , N Abadi , D Satta , M Rastari , M Seresht-Ahmadi , J Bignon-Topalovic , I Mazen , J Leger , D Simon , R Brauner , M Totonchi , R Jauch , A Bashamboo , K McElreavey

Sex Dev. 2021;15(4):244-252. PMID: 34293745, doi: 10.1159/000515924.Brief Summary: This genetic study provides data of a large cohort of 140 patients with DSD who were screened for DHX37 variants.DHX37 emerges as a frequent cause of nonsyndromic 46,XY gonadal dysgenesis, and 46,XY testicular regression syndrome. Since the first description of the gene (1), <...
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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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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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