ISSN 1662-4009 (online)

ey0019.7-11 | Basic Science | ESPEYB19

7.11. Selective depletion of adult GFAP-expressing tanycytes leads to hypogonadotropic hypogonadism in males

L Butruille , M Batailler , ML Cateau , A Sharif , V Leysen , V Prevot , P Vaudin , D Pillon , M Migaud

Front Endocrinol (Lausanne). 2022 Mar 16;13:869019. doi: 10.3389/fendo.2022.869019. PMID: 35370973. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8966543/Brief Summary: This mouse study explores the function of alpha-tanycytes, which are neurogenic stem cells located in the medio-basal hypothalamus and expres...

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...

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...