References
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
L.C. Layman, The genetic basis of female reproductive disorders: etiology and clinical testing. Mol. Cell. Endocrinol. 370(1–2), 138–148 (2013)
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)
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
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)
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
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)
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)
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)
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]
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]
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)
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)
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)
E. Fisher, P. Scambler, Human haploinsufficiency-one for sorrow, two for joy. Nat. Genet. 7(1), 5–7 (1994)
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.
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All the authors declare that there is no conflict of interest.
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Yoko Izumi, Ikuma Musha, and Erina Suzuki contributed equally to this work.
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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
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DOI: https://doi.org/10.1007/s12020-014-0434-4