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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): 5870. 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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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

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

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

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