ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 17 of about 353 results

ey0019.1-13 | Clinical Papers | ESPEYB19

1.13. Management of children and young people with idiopathic pituitary stalk thickening, central diabetes insipidus, or both: a national clinical practice consensus guideline.

M Cerbone , J Visser , C Bulwer , A Ederies , K Vallabhaneni , S Ball , I Kamaly-Asl , A Grossman , H Gleeson , M Korbonits , V Nanduri , V Tziaferi , T Jacques , HA Spoudeas

Lancet Child Adolesc Health. 2021 Sep;5(9):662-676. doi: 10.1016/S2352-4642(21)00088-2. Epub 2021 Jun 30; PMID: 34214482.Brief Summary: This comprehensive guideline defines the role of cerebrospinal fluid tumor markers, whole-body imaging, and the indications, timing and risks of stalk biopsy, as well as criteria for discharge in children and young people with idiopathic pituitary stalk...
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ey0019.4-10 | New Perspectives | ESPEYB19

4.10. Genetic characterization of short stature patients with overlapping features of growth hormone insensitivity syndromes

A Andrews , A Maharaj , E Cottrell , S Chatterjee , P Shah , L Denvir , K Dumic , A Bossowski , T Mushtaq , R Vukovic , M Didi , N Shaw , LA Metherell , MO Savage , HL Storr

J Clin Endocrinol Metab. 2021;106(11):e4716-e4733. PMID: 34136918Brief Summary: In this study, 149 children referred for suspected GH insensitivity (GHI) and short stature underwent genetic characterization through different techniques, including whole exome sequencing, targeted gene sequencing and array comparative genomic hybridization (array-CGH). Genetic alterations were identified in 80/149 subjects (54%), of which 45 were affected by GH&#1...
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ey0019.5-4 | Advances in clinical practice | ESPEYB19

5.4. PTH infusion for seizures in autosomal dominant hypocalcemia type 1

A Sastre , K Valentino , FM Hannan , KE Lines , AK Gluck , M Stevenson , M Ryalls , RJ Gorrigan , D Pullen , J Buck , S Sankaranarayanan , J Allgrove , RV Thakker , EF Gevers

N Engl J Med. 2021 Jul 8;385(2):189-191.Abstract: https://pubmed-ncbi-nlm-nih-gov.proxy.kib.ki.se/34233101/In brief: This study retrospectively analysed a cohort of patients with autosomal dominant hypocalcemia type 1 and recurrent hypocalcemic seizures treated with continuous subcutaneous PTH (1-34) infusions using insulin pumps. Compared to conventional therapy, PTH (1-34)...
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ey0019.6-2 | Sex Hormone Replacement Therapies in DSD | ESPEYB19

6.2. Metabolic effects of estradiol versus testosterone in complete androgen insensitivity syndrome

MK Auer , W Birnbaum , MF Hartmann , PM Holterhus , A Kulle , A Lux , L Marshall , K Rall , A Richter-Unruh , R Werner , SA Wudy , O Hiort

Endocrine. 2022 Jun;76(3):722-732. PMID: 35258786, doi: 10.1007/s12020-022-03017-8.Brief Summary: In this multicentre, randomized, double-dummy, double-blind crossover trial the authors investigated differences in metabolic parameters between the individuals with complete androgen insensitivity syndrome (CAIS) receiving testosterone versus estradiol replacement therapy. This is the first s...
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ey0019.7-4 | Clinical Guidance | ESPEYB19

7.4. The use of morning urinary gonadotropins and sex hormones in the management of early puberty in chinese girls

S Zhan , K Huang , W Wu , D Zhang , A Liu , RM Dorazio , J Shi , R Ullah , L Zhang , J Wang , G Dong , Y Ni , J Fu

J Clin Endocrinol Metab. 2021 Oct 21;106(11):e4520-e4530. doi: 10.1210/clinem/dgab448. Erratum in: J Clin Endocrinol Metab. 2021 Nov 15;: PMID: 34160619https://academic.oup.com/jcem/article/106/11/e4520/6308284Brief Summary: This cross-sectional study of 355 girls with Central Precocious Puberty (CPP) evaluates t...
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ey0019.7-9 | Basic Science | ESPEYB19

7.9. Sex-specific pubertal and metabolic regulation of Kiss1 neurons via Nhlh2

S Leon , R Talbi , EA McCarthy , K Ferrari , C Fergani , L Naule , JH Choi , RS Carroll , UB Kaiser , CF Aylwin , A Lomniczi , VM Navarro

Elife. 2021 Sep 8;10:e69765. doi: 10.7554/eLife.69765. PMID: 34494548. https://elifesciences.org/articles/69765Brief Summary: Using a database for arcuate nucleus transcripts, this study identifies Nhlhl2 as a key regulator of the Kiss1 gene in male mice.The timing of puberty onset is i...
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ey0019.8-8 | Clinical Trials – New Treatments | ESPEYB19

8.8. Crinecerfont lowers elevated hormone markers in adults with 21-hydroxylase deficiency congenital adrenal hyperplasia

AR Auchus , K Sarafoglou , PY Fechner , MG Vogiatzi , EA Imel , SM Davis , N Giri , J Sturgeon , E Roberts , JL Chan , RH Farber

J Clin Endocrinol Metab. 2022; 107(3): 801-812. PMID: 34653252 https://pubmed.ncbi.nlm.nih.gov/34653252/Brief Summary: This clinical trial evaluated the safety and efficacy of crinecerfont, a CRF1R antagonist, in suppressing adrenal androgen secretion in adult patients with classic congenital adrenal hyperplasia (CAH) during a treatment period of 14 days.Class...
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ey0019.8-9 | Clinical Trials – New Treatments | ESPEYB19

8.9. Tildacerfont in adults with classic Congenital Adrenal Hyperplasia: Results from two phase 2 studies

K Sarafoglou , CN Barnes , M Huang , EA Imel , IJ Madu , DP Merke , D Moriarty , S Nakhle , RS Newfield , MG Vogiatzi , RJ Auchus

J Clin Endocrinol Metab. 2021; 106(11): e4666-e4679. PMID: 34146101https://pubmed.ncbi.nlm.nih.gov/34146101/Brief Summary: These clinical trials evaluated the safety and efficacy of tildacerfront, a CRF1R antagonist, in suppressing adrenal androgen secretion in adult patients with classical Congenital adrenal hyperplasia (CAH) during a treatment period of 12 weeks.<p class="abs...
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ey0019.9-2 | Thyroid cancer in childhood cancer survivors | ESPEYB19

9.2. Surgical outcomes in survivors of childhood cancer undergoing thyroidectomy: A single-institution experience

Remortel BJ Van , L Chehab , AJ Bauer , A Isaza , L Yimei , HD Baumgarten , AT Franco , TW Laetsch , K Kazahaya , NS Adzick , S Mostoufi-Moab

moab@chop.edu Pediatr Blood Cancer. 2022; 69: e29674. PMID: 35338690.Brief Summary: Childhood cancer survivors (CCS), particularly those exposed to local irradiation, are at increased risk for thyroid disease and thyroid surgery. This retrospective, monocentric study compared rates of surgical complications among 42 CCS undergoing thyroid surgery compared to 596 non-CCS controls (sporadic/familial thyroid cance...
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ey0019.10-6 | New paradigms | ESPEYB19

10.6. Progression of type 1 diabetes from latency to symptomatic disease is predicted by distinct autoimmune trajectories

BC Kwon , V Anand , P Achenbach , JL Dunne , W Hagopian , J Hu , E Koski , AE Lernmark , M Lundgren , K Ng , J Toppari , R Veijola , BI Frohnert

T1DI Study Group. Nat Commun. 2022 Mar 21;13(1):1514. https://pubmed.ncbi.nlm.nih.gov/35314671/Brief Summary: This study of 5 birth cohorts of individuals at high risk for type 1 diabetes (T1D) used machine learning methods to explore trajectories from autoantibodies appearance to T1D progression. They identified 11 distinct latent health states and individuals progressed according to one o...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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