Homozygous mutation in the prokineticin-receptor2 gene (Val274Asp) presenting as reversible Kallmann syndrome and persistent oligozoospermia: Case report

Human Reproduction

Volumn 23, Issue 10, 2008, Pages 2380-2384

  Sinisi, Antonio Agostino ^a   Asci, Roberta ^a,b   Bellastella, Giuseppe ^a   Maione, Luigi ^a   Esposito, Dario ^a   Elefante, Andrea ^b   De Bellis, Annamaria ^a   Bellastella, Antonio ^a   Iolascon, Achille ^b  

^a SECOND UNIVERSITY OF NAPLES   (Italy)

^b UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

Anosmia; Hypogonadotrophic hypogonadism; Prokineticin receptor2; Reversible Kallmann syndrome

Indexed keywords

CHORIONIC GONADOTROPIN; RECOMBINANT FOLLITROPIN; TESTOSTERONE ENANTATE;

ADULT; ANAMNESIS; ARTICLE; AZOOSPERMIA; CASE REPORT; CLINICAL FEATURE; GENE MUTATION; HUMAN; HYPOGONADISM; KALLMANN SYNDROME; MALE; MONOTHERAPY; NUCLEAR MAGNETIC RESONANCE IMAGING; OLIGOSPERMIA; PHYSICAL EXAMINATION; PROKINETICIN RECEPTOR 2 GENE; RECEPTOR GENE; SEMEN ANALYSIS; SUBSTITUTION THERAPY; TREATMENT OUTCOME;

EID: 52449133904     PISSN: 02681161     EISSN: 14602350     Source Type: Journal    
DOI: 10.1093/humrep/den247     Document Type: Article

References (27)

1. Antelli A, Baldazzi L, Balsamo A, Pirazzoli P, Nicoletti A, Gennari M, Cicognani A. Two novel GnRHR gene mutations in two siblings with hypogonadotropic hypogonadism. Eur J Endocrinol 2006;155:201-205.
2. Bhasin S. Experiments of nature- glimpse into mysteries of the pubertal clock. N Engl J Med 2007;357:929-932.
3. Cariboni A, Maggi R. Kallmann's syndrome, a neuronal migration defect. Cell Mol Life Sci 2006;63:2512-2526.
4. Dodé C, Levilliers J, Dupont JM, De Paepe A, Le Du N, Soussi-Yanicostas N, Coimbra RS, Delmaghani S, Compain-Nouaille S, Baverel F et al. Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nat Genet 2003;33:463-465.
5. Dodé C, Teixeira L, Levilliers J, Fouveaut C, Bouchard P, Kottler ML, Lespinasse J, Lienhardt-Roussie A, Mathieu M, Moerman A et al. Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2. PLoS Genet 2006;2:175.
6. Doty RL, Shaman P, Kimmelman CP, Dann MS. University of Pennsylvania smell identification test: a rapid quantitative olfactory function test for the clinic. Laringoscope 1984;94:176-178.
7. Franco B, Guioli S, Pragliola A, Incerti B, Bardoni B, Tonlorenzi R, Carrozzo R, Maestrini E, Pieretti M, Taillon-Miller P et al. A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules. Nature 1991;353:529-536.
8. Gonzalez-Martinez D, Hu Y, Bouloux PM. Ontogeny of GnRH and olfactory neuronal systems in man: novel insights from the investigation of inherited forms of Kallmann's syndrome. Front Neuroendocrinol 2004;25:108- 130.
9. Hardelin JP, Levilliers J, Blanchard S, Carel JC, Leutenneger M, Pinard-Bartelletto JP, Bouloux P, Petit C. Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome. Hum Mol Genet 1993;2:373-377.
10. Legouis R, Hardelin JP, Levilliers J, Claverie JM, Compain S, Wunderle V, Millasseau P, Le Paslier D, Cohen D, Caterina D et al. The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules. Cell 1991;67:423-435.
11. Leroy C, Fouveaut C, Leclercq S, Jacquemont S, Boullay HD, Lespinasse J, Delpech M, Dupont JM, Hardelin JP, Dodé C. Biallelic mutations in the prokineticin-2 gene in two sporadic cases of Kallmann syndrome. Eur J Hum Genet 2008; February 20 (Epub ahead of print).
12. Lin L, Conway GS, Hill NR, Dattani MT, Hindmarsh PC, Achermann JC. A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia. J Clin Endocrinol Metab 2006;91:5117- 5121.
13. Matsumoto S, Yamazaki C, Masumoto KH, Nagano M, Naito M, Soga T, Hiyama H, Matsumoto M, Takasaki J, Kamohara M et al. Abnormal development of the olfactory bulb and reproductive system in mice lacking prokineticin receptor PKR2. Proc Natl Acad Sci 2006;103:4140-4145.
14. Ng KL, Li JD, Cheng MY, Leslie FM, Lee AG, Zhou QY. Dependence of olfactory bulb neurogenesis on prokineticin 2 signaling. Science 2005;308:1923-1927.
15. Pitteloud N, Boepple PA, DeCruz S, Valkenburgh SB, Crowley WF Jr, Hayes FJ. The fertile eunuch variant of idiopathic hypogonadotropic hypogonadism: spontaneous reversal associated with a homozygous mutation in the gonadotropin-releasing hormone receptor. J Clin Endocrinol Metab 2001;86:2470-2475.
16. Pitteloud N, Acierno JS, Jr, Meysing AU, Dwyer AA, Hayes FJ, Crowley WF Jr. Reversible Kallmann syndrome, delayed puberty, and isolated anosmia occurring in a single family with a mutation in the fibroblast growth factor receptor 1 gene. J Clin Endocrinol Metab 2005;90:1317-1322.
17. Pitteloud N, Meysing A, Quinton R, Acierno JS, Dwyer AA, Plummer L, Fliers E, Boepple P, Hayes F, Seminara S et al. Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes. Mol Cell Endocrinol 2006;254-255:60.
18. Pitteloud N, Quinton R, Pearce S, Raivio T, Acierno J, Dwyer A, Plummer L, Hughes V, Seminara S, Cheng YZ et al. Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism. J Clin Invest 2007a;117:457-463.
19. Pitteloud N, Zhang C, Pignatelli D, Li JD, Raivio T, Cole LW, Plummer L, Jacobson-Dickman EE, Mellon PL, Zhou QY et al. Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism. Proc Natl Acad Sci 2007b;104:17447- 17452.
20. Quinton R, Cheow HK, Bouloux P-MG, Tymms DJ, Wu FCW, Jacobs HS. Kallmann's syndrome: is it always for life? Clin Endocrinol. 1999;50:481-487.
21. Quinton R, Duke VM, Robertson A, Kirk JM, Matfin G, de Zoysa PA, Azcona C, MacColl GS, Jacobs HS, Conway GS et al. Idiopathic gonadotrophin deficiency: genetic questions addressed through phenotypic characterization. Clin Endocrinol 2001;55:163-174.
22. Raivio T, Falardeau J, Dwyer A, Quinton R, Hayes FJ, Hughes VA, Cole LW, Pearce SH, Lee H, Boepple P et al. Reversal of idiopathic hypogonadotropic hypogonadism. N Engl J Med 2007;357:863-873.
23. Ribeiro RS, Vieira TC, Abucham J. Reversible Kallmann syndrome: report of the first case with a KAL1 mutation and literature review. Eur J Endocrinol 2007;156:285-290.
24. Sato N, Katsumata N, Kagami M, Hasegawa T, Hori N, Kawakita S, Minowada S, Shimotsuka A, Shishiba Y, Yokozawa M et al. Clinical Assessment and mutation analysis of kallmann syndrome 1 (Kal1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients. J Clin Endocrinol Metab 2004;89:1079-1088.
25. Seminara SB, Hayes FJ, Crowley WF Jr. Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallman's syndrome): pathophysiological and genetic considerations. Endocr Rev 2003;19:521-539.
26. Schwanzel-Fukuda M, Bick DP, Pfaff DW. Luteinizing hormone-releasing hormone (LHRH)-expressing cells do not migrate normally in an inherited hypogonadal (Kallmann) syndrome. Mol Brain Res. 1989;6:311-326.
27. World Health Organization. WHO Laboratory Manual for the Examination of Human Semen and Sperm-Cervical Mucus Interaction. Cambridge: Cambridge University Press, 1992.