Chrisoulidou Alexandra, Bili Helen, Georgiou Eleni, Mavroudi Sotiria, Lazaridou Anna S
Unit of Endocrinology, Theageneion Hospital, Thessaloniki, Greece.
Fertil Steril. 2008 Oct;90(4):1198.e19-21. doi: 10.1016/j.fertnstert.2007.11.004. Epub 2008 Jan 4.
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.
Case report.
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.
报告一例17岁性发育正常的青少年继发性闭经的罕见病例，其核型为46,XX/46,X,+环状X/47,XX,+环状X。
病例报告。
三级临床内分泌护理医院。
一名17岁继发性闭经患者，性征正常，无特纳综合征体征。
临床病史、激素指标、细胞遗传学分析。
采用G显带技术、多色荧光原位杂交和外周血淋巴细胞多色带分析进行细胞遗传学分析。
12%的中期分裂相中存在嵌合体，表明有一条环状X染色体和一或两条正常X染色体，形成核型46,XX/46,X,+环状X/47,XX,+环状X。
我们的研究结果表明，在某些闭经病例中进行细胞遗传学研究的必要性。这在继发性闭经患者中是一种非常罕见的核型。
