Mosaic ring X chromosome in a case of secondary amenorrhea.
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.


METHODS
Case report.


METHODS
Hospital, tertiary level of clinical endocrine care.


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


METHODS
Clinical history, hormonal markers, cytogenetic analysis.


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


RESULTS
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.


CONCLUSIONS
Our findings indicate the necessity for cytogenetic studies in certain cases of amenorrhea. This is a very rare karyotype in patients with secondary amenorrhea.
Chrisoulidou
Alexandra
A
Unit of Endocrinology, Theageneion Hospital, Thessaloniki, Greece. alexri@otenet.gr
Bili
Helen
H
Georgiou
Eleni
E
Mavroudi
Sotiria
S
Lazaridou
Anna S
AS
D000293:Adolescent; D000568:Amenorrhea / Q000209:etiology* / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics*; D005260:Female; D006801:Humans; D009030:Mosaicism; D012303:Ring Chromosomes