ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 1 of about 5 results

ey0015.8-11 | Clinical Trials – New Treatments | ESPEYB15

8.11 Effect of once-daily, modified-release hydrocortisone versus standard glucocorticoid therapy on metabolism and innate immunity in patients with adrenal insufficiency (DREAM): a single-blind, randomised controlled trial

AM Isidori , MA Venneri , C Graziadio , C Simeoli , D Fiore , V Hasenmajer , E Sbardella , D Gianfrilli , C Pozza , P Pasqualetti , S Morrone , A Santoni , F Naro , A Colao , R Pivonello , A. Lenzi

To read the full abstract: Lancet Diabetes Endocrinol. 2018; 6(3): 173-185Adrenal insufficiency (AI), caused by adrenal failure (primary) or hypothalamo-pituitary failure (secondary), has a prevalence of 250–450 per 1 million (16). AI is potentially life-threatening and requires lifelong glucocorticoid replacement therapy. Modified-release hydrocortisone preparations have bee...
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ey0017.7-11 | Basic Science | ESPEYB17

7.11. Neuron-derived neurotrophic factor is mutated in congenital hypogonadotropic hypogonadism

A Messina , K Pulli , S Santini , J Acierno , J Kansakoski , D Cassatella , C Xu , F Casoni , SA Malone , G Ternier , D Conte , Y Sidis , J Tommiska , K Vaaralahti , A Dwyer , Y Gothilf , GR Merlo , F Santoni , NJ Niederlander , P Giacobini , T Raivio , N Pitteloud

To read the full abstract: American journal of human genetics vol. 106,1 (2020): 58–70. doi: https://www.sciencedirect.com/science/article/pii/S0002929719304677?via%3DihubBy performing next-generation sequencing in 240 unrelated probands with congenital hypogonadotropic hypogonadism and follow-up in multiple animal models, this study identifies ...
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ey0015.7-8 | Genetic architecture of hypogonadotropic hypogonadism and delayed puberty | ESPEYB15

7.8 Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures

D Cassatella , SR Howard , JS Acierno , C Xu , GE Papadakis , FA Santoni , AA Dwyer , S Santini , GP Sykiotis , C Chambion , J Meylan , L Marino , L Favre , J Li , X Liu , J Zhang , PM Bouloux , C Geyter , A Paepe , WS Dhillo , JM Ferrara , M Hauschild , M Lang-Muritano , JR Lemke , C Flück , A Nemeth , F Phan-Hug , D Pignatelli , V Popovic , S Pekic , R Quinton , G Szinnai , D l'Allemand , D Konrad , S Sharif , ÖT Iyidir , BJ Stevenson , H Yang , L Dunkel , N Pitteloud

To read the full abstract: Eur J Endocrinol. 2018 Apr;178(4):377-388[Comments on 7.7 and 7.8] Familial self-limited delayed puberty is highly heritable and has a clear genetic basis as described in the review written by Sasha Howard. Recent studies suggest that the genetic basis of self-limited delayed puberty is likely to be highly heteroge...
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ey0020.5-8 | Clinical Guidance and Studies | ESPEYB20

5.8. GnRH replacement rescues cognition in Down syndrome

M Manfredi-Lozano , V Leysen , M Adamo , I Paiva , R Rovera , JM Pignat , FE Timzoura , M Candlish , S Eddarkaoui , SA Malone , MSB Silva , S Trova , M Imbernon , L Decoster , L Cotellessa , M Tena-Sempere , M Claret , A Paoloni-Giacobino , D Plassard , E Paccou , N Vionnet , J Acierno , AM Maceski , A Lutti , F Pfrieger , S Rasika , F Santoni , U Boehm , P Ciofi , L Buee , N Haddjeri , AL Boutillier , J Kuhle , A Messina , B Draganski , P Giacobini , N Pitteloud , V Prevot

Brief summary: This study identified a new role for GnRH in higher brain function using a rodent model of Down Syndrome. It reports for the first time an improvement of cognitive functions in patients with Down Syndrome treated with pulsatile GnRH.GnRH neurons are classically described as a population of neurons located in the hypothalamus and responsible for the activation and regulation of the hypothalamic-pituitary-gonadal axis. However, the recent de...
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ey0020.5-13 | Basic Research | ESPEYB20

5.13. NOS1 mutations cause hypogonadotropic hypogonadism with sensory and cognitive deficits that can be reversed in infantile mice

K Chachlaki , A Messina , V Delli , V Leysen , C Maurnyi , C Huber , G Ternier , K Skrapits , G Papadakis , S Shruti , M Kapanidou , X Cheng , J Acierno , J Rademaker , S Rasika , R Quinton , M Niedziela , D L'Allemand , D Pignatelli , M Dirlewander , M Lang-Muritano , P Kempf , S Catteau-Jonard , NJ Niederlander , P Ciofi , M Tena-Sempere , J Garthwaite , L Storme , P Avan , E Hrabovszky , A Carleton , F Santoni , P Giacobini , N Pitteloud , V Prevot

Brief summary: This study identified nitric oxide synthase 1 (NOS1) heterozygous missense variants in 6 patients with hypogonadotropic hypogonadism. Altered minipuberty and puberty as well as cognitive impairment were observed in NOS1 deficient mice.Nitric oxide (NO) is produced under the control of NO synthase in hypothalamic neurons. NO plays a crucial role in regulating gonadotropin-releasing hormone (GnRH) secretion, acting as a strong inhibitory sig...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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