Maciejewska-Jeske Marzena, Czyzyk Adam, Meczekalski Blazej
a Department of Gynecological Endocrinology , Poznan University of Medical Sciences , Poznan , Poland.
Gynecol Endocrinol. 2015 Jul;31(7):526-8. doi: 10.3109/09513590.2015.1018164.
Turner syndrome (TS) is a gonadal dysgenesis related to partial or total lack of one of the X chromosomes. It this report we describe a young patient presenting some somatic features of TS, who underwent spontaneous puberty and was eumenoorheic up to the age of 23.
Using fluorescent in situ hybridization (FISH) mosaic karyotype (45X[131]/47XXX[9]) of TS and triple X syndrome was found.
She presented uncommon for TS somatic hemihypotrophy and underwent growth hormone and surgical therapy. The patient was diagnosed with premature ovarian failure when she was 23, with absent follicular reserve. Clinical features of this case and a few published cases will be reviewed briefly.
特纳综合征（TS）是一种与一条X染色体部分或完全缺失相关的性腺发育不全。在本报告中，我们描述了一名具有TS某些躯体特征的年轻患者，该患者经历了自然青春期，直至23岁月经周期正常。
采用荧光原位杂交（FISH）技术发现了TS和XXX综合征的嵌合核型（45,X[131]/47,XXX[9]）。
她表现出TS不常见的躯体半侧萎缩，并接受了生长激素和手术治疗。该患者23岁时被诊断为卵巢早衰，卵泡储备缺失。将简要回顾该病例及一些已发表病例的临床特征。
