ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 1 of about 3 results

ey0021.1-7 | Novel Genes | ESPEYB21

1.7. Identification of genetic variants and phenotypic characterization of a large cohort of patients with congenital hypopituitarism and related disorders

Gregory L.C. , Cionna C. , Cerbone M. , Dattani M. T.

Brief Summary: This study provides an in-depth exploration of the genetic underpinnings and clinical phenotypes associated with congenital hypopituitarism (CH) and related disorders. The authors analyse a large cohort (1765 patients) with or at risk of CH from 1563 unrelated families by Sanger, whole exome (WES) or whole genome sequencing (WGS). Genetic variants were identified in 10% of the CH cohort.CH is characterized by the insufficient pro...
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ey0016.3-16 | New Guidelines | ESPEYB16

3.16. 2018 European Thyroid Association (ETA) Guidelines on the diagnosis and management of central hypothyroidism

L Persani , G Brabant , M Dattani , M Bonomi , U Feldt-Rasmussen , E Fliers , A Gruters , D Maiter , N Schoenmakers , ASP van Trotsenburg

Eur Thyroid J. 2018;7:225-37. doi: 10.1159/000491388. Epub 2018 Jul 19https://www.ncbi.nlm.nih.gov/pubmed/30374425Diagnosis and treatment of central hypothyroidism are much more complex than for primary hypothyroidism. For the first time, guidelines summarize all the available evidence to provide a thorough state of...
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ey0019.7-2 | Clinical Guidance | ESPEYB19

7.2. Genetic evaluation supports differential diagnosis in adolescent patients with delayed puberty

T Saengkaew , HR Patel , K Banerjee , G Butler , MT Dattani , M McGuigan , HL Storr , RH Willemsen , L Dunkel , SR Howard

Eur J Endocrinol. 2021 Oct 8;185(5):617-627. doi: 10.1530/EJE-21-0387. PMID: 34403359. https://eje.bioscientifica.com/view/journals/eje/185/5/EJE-21-0387.xmlBrief Summary: This study investigates the role of Whole Exome Sequencing in the differential diagnosis of delayed puberty, evaluating a geno...
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Published by BioScientifica

ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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