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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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ey0015.9-8 | Growth, growth hormone and puberty in chronic diseases: novel insights from clinical practice | ESPEYB15

9.8 Growth and weight gain in children with juvenile idiopathic arthritis: results from the ReACCh-Out cohort

J Guzman , T Kerr , LM Ward , J Ma , K Oen , AM Rosenberg , BM Feldman , G Boire , K Houghton , P Dancey , R Scuccimarri , A Bruns , AM Huber , K Watanabe Duffy , NJ Shiff , RA Berard , DM Levy , E Stringer , K Morishita , N Johnson , DA Cabral , M Larché , RE Petty , RM Laxer , E Silverman , P Miettunen , AL Chetaille , E Haddad , L Spiegel , SE Turvey , H Schmeling , B Lang , J Ellsworth , SE Ramsey , J Roth , S Campillo , S Benseler , G Chédeville , R Schneider , SML Tse , R Bolaria , K Gross , D Feldman , B Cameron , R Jurencak , J Dorval , C LeBlanc , C St Cyr , M Gibbon , RSM Yeung , CM Duffy , LB Tucker

To read the full abstract: Pediatr Rheumatol Online J. 2017Aug 22;15(1):68This large prospective study analysed growth in children with JIA during a 3-year period from diagnosis. Interesting findings emerge: the heights and weights of these patients, clearly compromised in historical cohorts, appeared nearly normal. Increased risk of growth impairment was noted in patients with systemic arthr...

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ey0021.9-16 | Bone Health and Chronic Diseases | ESPEYB21

9.16. Vertebral body reshaping after fractures: an important index of recovery in glucocorticoid-treated children

J Ma , K Siminoski , JL Jaremko , K Koujok , MA Matzinger , N Shenouda , N Wilson , M Cheng , N Alos , S Atkinson , EA Cummings , J Ho , C Rodd , AM Sbrocchi , R Stein , R Barr , E Cairney , DB Dix , CV Fernandez , R Grant , J Halton , S Israels , C Laverdiere , VA Lewis , DA Cabral , A Huber , K Houghton , R Jurencak , B Lang , M Larche , CMA LeBlanc , P Miettunen , J Roth , R Scuccimarri , L Bell , T Blydt-Hansen , G Filler , J Feber , V Phan , K Smit , F Rauch , LM Ward

Brief Summary: This prospective natural history study examined the timing and positive indicators for reshaping of vertebral fractures (VF) in glucocorticoid (GC)-treated patients with chronic diseases. Complete VF reshaping occurred in 82.3% of patients, with similar frequencies in all diagnosis groups (leukemia, rheumatic disorders and nephrotic syndrome) in a median time of 1.3 years. Likelihood of VF reshaping was positively related to higher lumbar spine bone mineral dens...

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ESPE Yearbook of Paediatric Endocrinology

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

9.8 Growth and weight gain in children with juvenile idiopathic arthritis: results from the ReACCh-Out cohort

9.16. Vertebral body reshaping after fractures: an important index of recovery in glucocorticoid-treated children

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