Skip to main content

Advertisement

Log in

Hypogonadotropic hypogonadism in a female patient previously diagnosed as having waardenburg syndrome due to a sox10 mutation

  • Research Letter
  • Published:
Endocrine Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

References

  1. R. Rapaport, Disorders of the gonads, in Nelson textbook of pediatrics, 18th edn., ed. by R.M. Kliegman, R.E. Behrman, H.B. Jenson, B.F. Stanton (Saunders, Philadelphia, 2007), pp. 2374–2403

    Google Scholar 

  2. L.C. Layman, The genetic basis of female reproductive disorders: etiology and clinical testing. Mol. Cell. Endocrinol. 370(1–2), 138–148 (2013)

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  3. H. Miraoui, A.A. Dwyer, G.P. Sykiotis, L. Plummer, W. Chung, B. Feng, A. Beenken, J. Clarke, T.H. Pers, P. Dworzynski, K. Keefe, M. Niedziela, T. Raivio, W.F.Jr Crowley, S.B. Seminara, R. Quinton, V.A. Hughes, P. Kumanov, J. Young, M.A. Yialamas, J.E. Hall, G.V. Vliet, J.P. Chanoine, J. Rubenstein, M. Mohammadi, P.S. Tsai, Y. Sidis, K. Lage, N. Pitteloud, Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. Am. J. Hum. Genet. 92(5), 725–743 (2013)

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  4. Y. Izumi, E. Suzuki, S. Kanzaki, S. Yatsuga, S. Kinjo, M. Igarashi, T. Maruyama, S. Sano, R. Horikawa, N. Sato, K. Nakabayashi, K. Hata, A. Umezawa, T. Ogata, Y. Yoshimura, M. Fukami, Genome-wide copy number analysis and systematic mutation screening in 58 patients with hypogonadotropic hypogonadism. Fertil. Steril. (2014). doi:10.1016/j.fertnstert.2014.06.017

    PubMed  Google Scholar 

  5. V. Pingault, V. Bodereau, V. Baral, S. Marcos, Y. Watanabe, A. Chaoui, C. Fouveaut, C. Leroy, O. Vérier-Mine, C. Francannet, D. Dupin-Deguine, F. Archambeaud, F.J. Kurtz, J. Young, J. Bertherat, S. Marlin, M. Goossens, J.P. Hardelin, C. Dodé, N. Bondurand, Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness. Am. J. Hum. Genet. 92(5), 707–724 (2013)

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  6. K. Vaaralahti, J. Tommiska, V. Tillmann, N. Liivak, J. Känsäkoski, E.M. Laitinen, T. Raivio, De novo SOX10 nonsense mutation in a patient with Kallmann syndrome and hearing loss. Pediatr. Res. (2014). doi:10.1038/pr.2014.60

    Google Scholar 

  7. V. Pingault, D. Ente, F. Dastot-Le Moal, M. Goossens, S. Marlin, N. Bondurand, Review and update of mutations causing Waardenburg syndrome. Hum. Mutat. 31(4), 391–406 (2010)

    Article  CAS  PubMed  Google Scholar 

  8. M. Iso, M. Fukami, R. Horikawa, N. Azuma, N. Kawashiro, T. Ogata, SOX10 mutation in Waardenburg syndrome type II. Am. J. Med. Genet. A. 146A(16), 2162–2163 (2008)

    Article  CAS  PubMed  Google Scholar 

  9. M. Furukawa, M. Kamide, T. Miwa, R. Umeda, Significance of intravenous olfaction test using thiamine propyldisulfide (Alinamin) in olfactometry. Auris Nasus Larynx 15(1), 25–31 (1988)

    CAS  PubMed  Google Scholar 

  10. T. Tanaka: Endocrine examination. In: T. Tanaka (ed.) New pocket guide of clinical standard values for children. 1st ed., 106-132. Jihou, Tokyo, (2009) [In Japanese]

  11. H. Inada, T. Imamura, R. Nakajima: Assessment of pituitary function. In; H. Inada, T. Imamura, R. Nakajima (eds.) Manual of endocrine examinations of children. 2nd ed., 5-22. Medical Review, Osaka, (2002) [In Japanese]

  12. N. Bondurand, V. Pingault, D.E. Goerich, N. Lemort, E. Sock, C.L. Caignec, M. Wegner, M. Goossens, Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome. Hum. Mol. Genet. 9(13), 1907–1917 (2000)

    Article  CAS  PubMed  Google Scholar 

  13. H. Zhang, H. Chen, H. Luo, J. An, L. Sun, L. Mei, C. He, L. Jiang, W. Jiang, K. Xia, J.D. Li, Y. Feng, Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II. Hum. Genet. 131(3), 491–503 (2012)

    Article  CAS  PubMed  Google Scholar 

  14. B. Jelena, L. Christina, V. Eric, Q.R. Fabiola, Phenotypic variability in Waardenburg syndrome resulting from a 22q12.3-q13.1 microdeletion involving SOX10. Am. J. Med. Genet A. 164(6), 1512–1519 (2014)

    Article  Google Scholar 

  15. E. Fisher, P. Scambler, Human haploinsufficiency-one for sorrow, two for joy. Nat. Genet. 7(1), 5–7 (1994)

    Article  CAS  PubMed  Google Scholar 

Download references

Acknowledgments

We thank Dr. Nadege Bondurand and Professor Michel Goossens for providing us the MITF reporter vector and the PAX3 expression vector.

This study was supported by grants from the Ministry of Health, Labor and Welfare, and from Takeda Science Foundation, by Grants-in-Aid for Scientific Research from the Japan Society for the Promotion of Science and from the Ministry of Education, Culture, Sports, Science, and Technology, and by the Grant of National Center for Child Health and Development.

Conflict of interest

All the authors declare that there is no conflict of interest.

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Maki Fukami.

Additional information

Yoko Izumi, Ikuma Musha, and Erina Suzuki contributed equally to this work.

Electronic supplementary material

Below is the link to the electronic supplementary material.

Supplementary material 1 (PPTX 77 kb)

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Izumi, Y., Musha, I., Suzuki, E. et al. Hypogonadotropic hypogonadism in a female patient previously diagnosed as having waardenburg syndrome due to a sox10 mutation. Endocrine 49, 553–556 (2015). https://doi.org/10.1007/s12020-014-0434-4

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s12020-014-0434-4

Keywords

Navigation