Turner Syndrome Research Today is a free monthly online journal that collates and summarizes the latest research about Turner Syndrome, including details on symptoms, causes, chromosomes, prognosis.

Mosaic ring X chromosome in a case of secondary amenorrhea.

Chrisoulidou A, Bili H, Georgiou E, Mavroudi S, Lazaridou AS

Unit of Endocrinology, Theageneion Hospital, Thessaloniki, Greece.

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.

Published 7 January 2008 in Fertil Steril.
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