, Volume 49, Issue 2, pp 553–556 | Cite as

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

  • Yoko Izumi
  • Ikuma Musha
  • Erina Suzuki
  • Manami Iso
  • Tomoko Jinno
  • Reiko Horikawa
  • Shin Amemiya
  • Tsutomu Ogata
  • Maki FukamiEmail author
  • Akira Ohtake
Research Letter


Hypogonadotropic hypogonadism (HH) is a clinically and genetically heterogeneous condition that can be associated with several additional clinical features such as anosmia, cleft palate, and hearing loss [1]. HH with anosmia is referred to as Kallmann syndrome (KS). More than 20 genes are known to underlie HH and/or KS, although mutations in these genes account for only a minor portion of the etiology of HH/KS [1, 2, 3, 4]. In 2013, Pingault et al. identified SOX10 mutations in seven patients with KS [5]. Furthermore, Pingault et al. found that genetic knockout of Sox10 disrupted migration of GnRH cells in murine fetuses [5]. Subsequently, Vaaralahti et al. identified an additional KS patient with a SOX10 mutation [6]. These results indicate that SOX10 mutations constitute rare genetic causes of KS. Currently, SOX10is known as one of the causative genes of Waardenburg syndrome (WS), a rare genetic disorder characterized by hearing loss and hypopigmentation in the skin,...


Cochlear Implantation Hypogonadotropic Hypogonadism Luciferase Reporter Vector Kallmann Syndrome Waardenburg Syndrome 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



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.

Supplementary material

12020_2014_434_MOESM1_ESM.pptx (77 kb)
Supplementary material 1 (PPTX 77 kb)


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Copyright information

© Springer Science+Business Media New York 2014

Authors and Affiliations

  • Yoko Izumi
    • 1
    • 2
  • Ikuma Musha
    • 3
  • Erina Suzuki
    • 1
  • Manami Iso
    • 1
  • Tomoko Jinno
    • 1
  • Reiko Horikawa
    • 4
  • Shin Amemiya
    • 3
  • Tsutomu Ogata
    • 1
    • 5
  • Maki Fukami
    • 1
    Email author
  • Akira Ohtake
    • 3
  1. 1.Department of Molecular EndocrinologyNational Research Institute for Child Health and DevelopmentSetagayaJapan
  2. 2.Department of Obstetrics and GynecologyKeio University School of MedicineShinjukuJapan
  3. 3.Department of Pediatrics, Faculty of MedicineSaitama Medical UniversityIruma-GunJapan
  4. 4.Department of Endocrinology and MetabolismNational Center for Child Health and DevelopmentSetagayaJapan
  5. 5.Department of PediatricsHamamatsu University School of MedicineHamamatsuJapan

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