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DOI: 10.1530/EJE-06-0606
European Journal of Endocrinology, Vol 156, Issue 2, 167-171
Copyright © 2007 by European Society of Endocrinology
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CASE REPORT

Hypogonadotropic hypogonadism in an adult female with a heterozygous hypomorphic mutation of SOX2

Naoko Sato, Yusuke Kamachi1, Hisato Kondoh1, Yuichi Shima2, Ken-ichirou Morohashi2, Reiko Horikawa3 and Tsutomu Ogata

Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, 2-10-1 Ohkura, Setagaya, Tokyo 157-8535, Japan, 1 Graduate School of Frontier Biosciences, Osaka University, Osaka, Japan, 2 Division of Cell Differentiation, National Institute for Basic Biology, Okazaki, Japan and 3 Division of Endocrinology and Metabolism, National Center for Child Health and Development, Tokyo, Japan

(Correspondence should be addressed to T Ogata; Email: tomogata{at}nch.go.jp)

Abstract

Objective: Heterozygous SOX2 mutations have recently been reported to cause isolated hypogonadotropic hypogonadism (HH), in addition to ocular and brain abnormalities. Here, we report a further case with a heterozygous hypomorphic SOX2 mutation and isolated HH.

Patient: The patient was a 28-year-old Japanese female with congenital right anophthalmia and poor pubertal development, who was found to have HH by a gonadotropin-releasing hormone test (peak serum LH, 2.3 mIU/ml; peak serum FSH, 2.9 mIU/ml). Other pituitary hormones were normal.

Methods: We performed mutation analysis of SOX2 and functional studies of mutant SOX2 protein using the core enhancer sequence of the chicken {delta}-1-crystallin gene (DC5) and that of the mouse nestin gene (Nes30).

Results: A heterozygous missense mutation (224T > A, Leu75Gln) was identified in the DNA-binding domain. The mutant SOX2 protein had a severely reduced (approximately 10%) DNA-binding affinity and a markedly diminished (20–30%) transactivation potential with no dominant negative effect.

Conclusions: The results provide further support for the positive role of SOX2 in the regulation of gonadotropin production.




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