Array-CGH detection of UGT2B28 gene deletion in a girl with primary amenorrhea and hyperandrogenism.

摘要

Primary amenorrhea is defined as delayed menarche by 14 years of age in the absence of secondary sexual characteristics, or absence of menses by 16 years of age in the presence of normal growth and secondary sexual characteristics [1]. The etiology of primary amenorrhea is complicated. Although some molecular basis for primary amenorrhea has been uncovered, the reasons have not been elucidated completely. The present paper reports on a new gene, UGT2B28, deletion of which appears to be associated with primary amenorrhea and hyperandrogenism.