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Fertil Steril. 2008 Oct;90(4):1198.e19-21. doi: 10.1016/j.fertnstert.2007.11.004. Epub 2008 Jan 4.

Mosaic ring X chromosome in a case of secondary amenorrhea.

Author information

1
Unit of Endocrinology, Theageneion Hospital, Thessaloniki, Greece. alexri@otenet.gr

Abstract

OBJECTIVE:

To report an unusual case of secondary amenorrhea in a 17-year-old adolescent with normal sexual development who proved to have a karyotype 46,XX/46,X,+ringX/47,XX,+ringX.

DESIGN:

Case report.

SETTING:

Hospital, tertiary level of clinical endocrine care.

PATIENT(S):

A 17-year-old patient with secondary amenorrhea and normal sexual characteristics with no stigmata of Turner syndrome.

INTERVENTION(S):

Clinical history, hormonal markers, cytogenetic analysis.

MAIN OUTCOME MEASURE(S):

Cytogenetic analysis by G-banding technique, multicolor fluorescence in situ hybridization, and multicolor banding analysis on peripheral blood lymphocytes.

RESULT(S):

The presence of mosaicism in 12% of metaphases indicating a ring X chromosome with one or two normal X chromosomes, forming a karyotype 46,XX/46,X, +ringX/47,XX,+ringX.

CONCLUSION(S):

Our findings indicate the necessity for cytogenetic studies in certain cases of amenorrhea. This is a very rare karyotype in patients with secondary amenorrhea.

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