ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 1 of about 6 results

ey0018.4-1 | Important for clinical practice | ESPEYB18

4.1. Diagnosis of severe growth hormone deficiency in the newborn

Binder Gerhard , Weber Karin , Rieflin Nora , Steinruck Louis , Blumenstock Gunnar , Janzen Nils , Franz Axel R.

Clinical Endocrinology. 2020;93:305–311. doi: 10.1111/cen.14264. PMID: 32521075This study analyzed retrospectively GH content in newborn screening cards of 20 children with clinical features suggestive of GH deficiency (such as recurrent hypoglycemia) compared to screening cards from 281 healthy newborns, and determined 7 ng/ml to be the optimal a cut off value for the diagnosis of GH defic...
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ey0019.8-7 | Important for Clinical Practice | ESPEYB19

8.7. Low adrenomedullary function predicts acute illness in infants with classical Congenital Adrenal Hyperplasia

J Weber , VK Tanawattanacharoen , A Seagroves , MC Liang , CM Koppin , HM Ross , TASS Bachega , ME Geffner , M Serrano-Gonzalez , G Bhullar , MS Kim

J Clin Endocrinol Metab. 2022; 107(1): e264–e271. PMID: 34397083https://pubmed.ncbi.nlm.nih.gov/34397083/ Brief Summary: This prospective cohort study determined plasma epinephrine concentrations in infants with classic CAH, and showed that the lower epinephrine reseve is associated with increased risk of illness.Children and adolescents with classical Congenital ...
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ey0019.3-7 | Congenital hypothyroidism | ESPEYB19

3.7. Treatment of congenital hypothyroidism: comparison between L-thyroxine oral solution and tablet formulations up to 3 years of age

MC Vigone , R Ortolano , G Vincenzi , C Pozzi , M Ratti , V Assirelli , S Vissani , P Cavarzere , A Mussa , R Gastaldi , Mase R Di , M Salerno , ME Street , J Trombatore , G Weber , A Cassio

Eur J Endocrinol. 2021 Nov 30;186(1):45-52. doi: 10.1530/EJE-20-1444. PMID: 34714772Brief Summary: This retrospective multicenter study examined the biochemical and neurocognitive outcomes of n=254 patients with congenital hypothyroidism (CH) at age 3 years, treated with either LT4 drops (n=117) or LT4 tablets (n=137). Overall, neurocognitive outcome was not different between the two treatment gr...
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ey0017.3-6 | Congenital hypothyroidism | ESPEYB17

3.6. Neonatal screening for congenital hypothyroidism: what can we learn from discordant twins?

E Medda , MC Vigone , A Cassio , F Calaciura , P Costa , G Weber , T de Filippis , G Gelmini , M Di Frenna , S Caiulo , R Ortolano , D Rotondi , M Bartolucci , R Gelsomino , S De Angelis , M Gabbianelli , L Persani , A Olivieri

To read the full abstract: J Clin Endocrinol Metab. 2019;104:5765–5779.It is not clear whether retesting is needed for a healthy cotwin of a twin pair discordant for congenital hypothyroidism (CH) at the first neonatal screening. Medda et al. retrospectively analyzed a cohort of 47 twin pairs discordant for CH at the first neonatal screening. On follow-up, 7 (15%) of cotwins who were initially negatively screened then tested positi...
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ey0019.1-5 | Genetics | ESPEYB19

1.5. Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism

A Schanzer , MT Achleitner , D Trumbach , L Hubert , A Munnich , B Ahlemeyer , MM AlAbdulrahim , PA Greif , S Vosberg , B Hummer , RG Feichtinger , JA Mayr , SB Wortmann , H Aichner , S Rudnik-Schoneborn , A Ruiz , E Gabau , JP Sanchez , S Ellard , T Homfray , KL Stals , W Wurst , BA Neubauer , T Acker , SK Bohlander , C Asensio , C Besmond , FS Alkuraya , MD AlSayed , A Hahn , A Weber

Ann Neurol. 2021 Jul;90(1):143-158. doi: 10.1002/ana.26127. PMID: 33999436.Brief Summary: This study identifies biallelic HID1 variants in 7 patients with hypopituitarism and infantile encephalopathy. It provides genetic and functional evidence for a novel gene-disease connection and expands the list of central nervous system diseases caused by impairment of the trans-Golgi network.<p ...
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ey0016.14-14 | (1) | ESPEYB16

14.14. Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

J Lord , DJ McMullan , RY Eberhardt , G Rinck , SJ Hamilton , E Quinlan-Jones , E Prigmore , R Keelagher , SK Best , GK Carey , R Mellis , S Robart , IR Berry , KE Chandler , D Cilliers , L Cresswell , SL Edwards , C Gardiner , A Henderson , ST Holden , T Homfray , T Lester , RA Lewis , R Newbury-Ecob , K Prescott , OW Quarrell , SC Ramsden , E Roberts , D Tapon , MJ Tooley , PC Vasudevan , AP Weber , DG Wellesley , P Westwood , H White , M Parker , D Williams , L Jenkins , RH Scott , MD Kilby , LS Chitty , ME Hurles , ER Maher

To read the full abstract: Lancet 2019;393:747–757. .This large prospective cohort study recruited from 34 UK fetal medicine units to evaluate the use of prenatal whole genome sequencing in 610 fetuses with a structural abnormality detected on antenatal ultrasound scanning and no chromosomal abnormality. Overall, a diagnostic genetic mutation ...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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