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

Endocrine. 2015 Jun;49(2):553-6. doi: 10.1007/s12020-014-0434-4. Epub 2014 Oct 2.

Authors

Yoko Izumi¹, Ikuma Musha, Erina Suzuki, Manami Iso, Tomoko Jinno, Reiko Horikawa, Shin Amemiya, Tsutomu Ogata, Maki Fukami, Akira Ohtake

Affiliation

¹ Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 2-10-1 Ohkura, Setagaya, Tokyo, 157-8535, Japan.

PMID: 25273316
DOI: 10.1007/s12020-014-0434-4

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Female
Humans
Hypogonadism / diagnosis
Hypogonadism / genetics*
Mutation
SOXE Transcription Factors / genetics*
Waardenburg Syndrome / diagnosis
Waardenburg Syndrome / genetics*

Substances

SOX10 protein, human
SOXE Transcription Factors