Publications

The publications below represent those by COST Action BM1105 members from at least 2 participating countries since the start of the Action in April 2012.

2015

Boehm U, Bouloux PM, Dattani MT, de Roux N, Dodé C, Dunkel L, Dwyer AA, Giacobini P, Hardelin JP, Juul A, Maghnie M, Pitteloud N, Prevot V, Raivio T, Tena-Sempere M, Quinton R, Young J. (2015) Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism-pathogenesis, diagnosis and treatment. Nat Rev Endocrinol. 2015 Jul 21. doi: 10.1038/nrendo.2015.112. [Epub ahead of print]. PMID:26194704

Maione L1, Cantone E, Nettore IC, Cerbone G, De Brasi D, Maione N, Young J, Di Somma C, Sinisi AA, Iengo M, Macchia PE, Pivonello R, Colao A (2015) Flavor perception test: evaluation in patients with Kallmann syndrome. Endocrine. 2015 Jul 25. [Epub ahead of print]. PMID:26209039

Cariboni A, André V, Chauvet S, Cassatella D, Davidson K, Caramello A, Fantin A, Bouloux P, Mann F, Ruhrberg C. (2015) Dysfunctional SEMA3E signaling underlies gonadotropin-releasing hormone neuron deficiency in Kallmann syndrome. J Clin Invest. 2015 Jun;125(6):2413-28. doi: 10.1172/JCI78448. Epub 2015 May 18. PMID:25985275

Garaffo G, Conte D, Provero P, Tomaiuolo D, Luo Z, Pinciroli P, Peano C, D'Atri I, Gitton Y, Etzion T, Gothilf Y, Gays D, Santoro MM, Merlo GR (2015)The Dlx5 and Foxg1 transcription factors, linked via miRNA-9 and -200, are required for the development of the olfactory and GnRH system. Mol Cell Neurosci. 2015 Apr 30;68:103-119. doi: 10.1016/j.mcn.2015.04.007. [Epub ahead of print]. PMID:25937343

Piet R, Fraissenon A, Boehm U, Herbison AE (2015) Estrogen permits vasopressin signaling in preoptic kisspeptin neurons in the female mouse. J Neurosci. 2015 Apr 29;35(17):6881-92. doi: 10.1523/JNEUROSCI.4587-14.2015. PMID:25926463

Yip SH, Boehm U, Herbison AE, Campbell RE (2015) Conditional Viral Tract Tracing Delineates the Projections of the Distinct Kisspeptin Neuron Populations to Gonadotropin-Releasing Hormone (GnRH) Neurons in the Mouse. Endocrinology. 2015 Jul;156(7):2582-94. doi: 10.1210/en.2015-1131. Epub 2015 Apr 9. PMID:25856430

Dwyer AA, Quinton R, Pitteloud N, Morin D. (2015) Psychosexual development in men with congential hypogonadotropic hypogonadism on long-term treatment: A mixed-methods study. Sex Med 3(1):32-41. PMID: 25844173

Parkash J, Messina A, Langlet F, Cimino I, Loyens A, Mazur D, Gallet S, Balland E, Malone SA, Pralong F, Cagnoni G, Schellino R, De Marchis S, Mazzone M, Pasterkamp RJ, Tamagnone L, Prevot V, Giacobini P(2015) Semaphorin7A regulates neuroglial plasticity in the adult hypothalamic median eminence. Nat Commun. 6:6385. PMID: 25721933

Skrapits K, Borsay BA, Herczeg L, Ciofi P, Liposits Z, Hrabovszky E (2015) Neuropeptide co-expression in hypothalamic kisspeptin neurons of laboratory animals and the human. Front Neuroscience (Lausanne): 9:29. PMID: 25713511

Dwyer AA, Raivio T, Pitteloud N (2015) Gonadotrophin replacement for induction of fertility in hypogonadal men. Best Pract Res Clin Endocrinol Metab. 29(1):91-103. PMID: 25617175

2014

Villanueva C, Jacobson-Dickman E, Xu C, Manouvrier S, Dwyer AA, Sykiotis GP, Beenken A, Liu Y, Tommiska J, Hu Y, Tiosano D, Gerard M, Leger J, Drouin-Garraud V, Lefebvre H, Polak M, Carel JC, Phan-Hug F, Hauschild M, Plummer L, Rey JP, Raivio T, Bouloux P, Sidis Y, Mohammadi M, de Roux N, Pitteloud N. (2014) Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations. Genet Med. doi: 10.1038/gim.2014.166. PMID:25394172

Borsay BA, Skrapits K, Herczeg L, Ciofi P, Bloom SR, Ghatei MA, Dhillo WS, Liposits Z, Hrabovszky E (2014) Hypophysiotropic gonadotropin-releasing hormone projections are exposed to dense plexuses of kisspeptin, neurokinin B and substance P immunoreactive fibers in the human: a study on tissues from postmenopausal women. Neuroendocrinology: 100(2-3):141-152. PMID:25247878

Skrapits K, Borsay BA, Herczeg L, Ciofi P, Bloom SR, Ghatei MA, Dhillo WS, Liposits Z, Hrabovszky E (2014) Colocalization of cocaine- and amphetamine-regulated transcript with kisspeptin and neurokinin B in the human infundibular region. PLoS One: 9(8): e103977. PMID:25084101

Dwyer AA, Quinton R, Morin D, Pitteloud N. (2014) Identifying the unmet health needs of patients with congenital hypogonadotropic hypogonadism using a web-based needs assessment: implications for online interventions and peer-to-peer support. Orphanet J Rare Dis. 9:83. PMID:24915927

Bellefontaine N, Chachlaki K, Parkash J, Vanacker C, Colledge W, d'Anglemont de Tassigny X, Garthwaite J, Bouret SG, Prevot V (2014) Leptin-dependent neuronal NO signaling in the preoptic hypothalamus facilitates reproduction. J Clin Invest. 124(6):2550-9. PMID:24812663

Tommiska J, Känsäkoski J, Christiansen P, Jørgensen N, Lawaetz JG, Juul A, Raivio T (2014) Genetics of congenital hypogonadotropic hypogonadism in Denmark. Eur J Med Genet. 57(7):345-8. PMID:24732674

Tüttelmann F, Damm OS, Luetjens CM, Baldi M, Zitzmann M, Kliesch S, Nieschlag E, Gromoll J, Wistuba J, Simoni M (2014) Intratesticular testosterone is increased in men with Klinefelter syndrome and may not be released into the bloodstream owing to altered testicular vascularization - a preliminary report. Andrology. 2(2):275-81.PMID:24574169

Känsäkoski J, Fagerholm R, Laitinen EM, Vaaralahti K, Hackman P, Pitteloud N, Raivio T, Tommiska J (2014) Mutation screening of SEMA3A and SEMA7A in patients with congenital hypogonadotropic hypogonadism. Pediatr Res. 75(5):641-4. PMID:24522099

Ghervan C, Young J. (2014) Congenital hypogonadotropic hypogonadism and Kallmann syndrome in males. Presse Med. 43(2):152-61. PMID:24456696

2013

Garaffo G, Provero P, Molineris I, Pinciroli P, Peano C, Battaglia C, Tomaiuolo D, Etzion T, Gothilf Y, Santoro M, Merlo GR (2013) Profiling, bioinformatic and functional data on the developing olfactory/GnRH system reveal cellular and molecular pathways essential for this process and potentially relevant for the Kallmann syndrome. Front. Endocrinol. 4:203. PMID: 24427155

Sidhoum VF, Chan YM, Lippincott MF, Balasubramanian R, Quinton R, Plummer L, Dwyer A, Pitteloud N, Hayes FJ, Hall JE, Martin KA, Boepple PA, Seminara SB (2013) Reversal and Relapse of Hypogonadotropic Hypogonadism: Resilience and Fragility of the Reproductive Neuroendocrine System. J Clin Endocrinol Metab. 99(3):861-70. PMID: 24423288

Dwyer AA, Sykiotis GP, Hayes FJ, Boepple PA, Lee H, Loughlin KR, Dym M, Sluss PM, Crowley WF Jr, Pitteloud N (2013) Trial of recombinant follicle-stimulating hormone pretreatment for GnRH-induced fertility in patients with congenital hypogonadotropic hypogonadism. J Clin Endocrinol Metab. 98(11):E1790-5. PMID:24037890

Hrabovszky E, Borsay BA, Rácz K, Herczeg L, Ciofi P, Bloom SR, Ghatei MA, Dhillo WW, Liposits Z (2013) Substance P immunoreactivity exhibits frequent colocalization with kisspeptin and neurokinin B in the human infundibular region. PLoS One. 8(8): e72369. PMID:23977290

Piet R, Boehm U, Herbison AE (2013) Estrous cycle plasticity in the hyperpolarization-activated current ih is mediated by circulating 17β-estradiol in preoptic area kisspeptin neurons. J Neurosci. 33:10828-10839. PMID:23804103

de Croft S, Boehm U, Herbison AE (2013) Neurokinin B activates arcuate kisspeptin neurons through multiple tachykinin receptors in the male mouse. Endocrinology. 154:2750-2760. PMID:23744641

Miraoui H, Dwyer AA, Sykiotis GP, Plummer L, Chung W, Feng B, Beenken A, Clarke J, Pers TH, Dworzynski P, Keefe K, Niedziela M, Raivio T, Crowley WF Jr, Seminara SB, Quinton R, Hughes VA, Kumanov P, Young J, Yialamas MA, Hall JE, Van Vliet G, Chanoine JP, Rubenstein J, Mohammadi M, Tsai PS, Sidis Y, Lage K, Pitteloud N (2013) Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. Am J Hum Genet. 92(5):725-43. PMID:23643382

Koika V, Varnavas P, Valavani H, Sidis Y, Plummer L, Dwyer A, Quinton R, Kanaka-Gantenbein C, Pitteloud N, Sertedaki A, Dacou-Voutetakis C, Georgopoulos NA (2013). Comparative functional analysis of two fibroblast growth factor receptor 1 (FGFR1) mutations affecting the same residue (R254W and R254Q) in isolated hypogonadotropic hypogonadism (IHH). Gene. 516(1):146-51. PMID:23276709

Tommiska J, Jørgensen N, Christiansen P, Juul A, Raivio T (2013) A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as reversal of hypogonadotropic hypogonadism and late-onset hypogonadism. Clin Endocrinol (Oxf). 78(2):316-7. PMID:22788855

2012

de Croft S, Piet R, Mayer C, Mai O, Boehm U, Herbison AE (2012). Spontaneous kisspeptin neuron firing in the adult mouse reveals marked sex and brain region differences but no support for a direct role in negative feedback. Endocrinology. 153:5384-5393. PMID:22989626

Avbelj Stefanija M, Jeanpierre M, Sykiotis GP, Young J, Quinton R, Abreu AP, Plummer L, Au MG, Balasubramanian R, Dwyer AA, Florez JC, Cheetham T, Pearce SH, Purushothaman R, Schinzel A, Pugeat M, Jacobson-Dickman EE, Ten S, Latronico AC, Gusella JF, Dodé C, Crowley WF Jr, Pitteloud N. (2012) An ancient founder mutation in PROKR2 impairs human reproduction. Hum Mol Genet. 21(19):4314-24. PMID:22773735

Raivio T, Avbelj M, McCabe MJ, Romero CJ, Dwyer AA, Tommiska J, Sykiotis GP, Gregory LC, Diaczok D, Tziaferi V, Elting MW, Padidela R, Plummer L, Martin C, Feng B, Zhang C, Zhou QY, Chen H, Mohammadi M, Quinton R, Sidis Y, Radovick S, Dattani MT, Pitteloud N. (2012) Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia. J Clin Endocrinol Metab. 97(4):E694-9. PMID:22319038