在61岁时被诊断出特纳综合征的病例报告
Yookyung Jin1, Youri Lee1, Sung Eun Kim2
1Department of Obstetrics and Gynecology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Journal of menopausal medicine
|January 17, 2024
概括
本案例研究详细介绍了一名61岁的妇女,诊断出特纳综合征,呈现出. 尽管最初的测试结果不确定,但染色体分析证实了马赛克型,导致了无恶性瘤的预防性淋巴切除术.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 遗传学 是一个
- 心脏病学 心脏病学
背景情况:
- 特纳综合征通常在年轻人中被诊断出来.
- 晚期诊断的特纳综合征可以呈现各种症状,包括心血管问题.
- 在特纳综合征中,马赛克型可以使诊断和管理复杂化.
研究的目的:
- 报告一个罕见的特纳综合征病例,诊断在成年后期.
- 突出诊断挑战和晚发特纳综合征的临床表现.
- 在这种情况下,讨论预防性淋巴切除术的管理和结果.
主要方法:
- 临床病例介绍与详细的病史.
- 心血管评估包括心声图和冠状动脉心脏计算机断层扫描.
- 用于染色体分析的型定型.
- 预防性淋巴切除术和随后的病理检查.
主要成果:
- 61岁时被诊断出特纳综合征,主要抱怨是一般性胀.
- 型显示出一个马赛克图案:45,X[17]/46,X,psu idic(Y)(q11.23).
- 进行了预防性淋巴切除术,没有发现恶性瘤.
结论:
- 特纳综合征可以在成年后期仍未被诊断出来,呈现出非经典症状.
- 马赛克型需要在临床表现的背景下仔细解释.
- 预防性淋巴切除术是成年特纳综合征病例中具有Y染色体物质的可行管理选择,即使没有检测到恶性瘤.
相关概念视频
Meiosis vs. Mitosis
55.8K
Cell division is necessary for growth and reproduction in organisms. Mitosis aids cell growth and development by dividing somatic cells. In contrast, meiosis causes the division of germ cells and plays an essential role in sexual reproduction. Due to their unique functional requirements, mitosis and meiosis differ from each other in multiple aspects.
Before the start of mitosis and meiosis I, the cell synthesizes DNA, resulting in two homologous copies of each chromosome. DNA synthesis is...
Before the start of mitosis and meiosis I, the cell synthesizes DNA, resulting in two homologous copies of each chromosome. DNA synthesis is...
55.8K
Karyotyping
60.6K
Overview
60.6K
Oogenesis
63.7K
In human women, oogenesis produces one mature egg cell or ovum for every precursor cell that enters meiosis. This process differs in two unique ways from the equivalent procedure of spermatogenesis in males. First, meiotic divisions during oogenesis are asymmetric, meaning that a large oocyte (containing most of the cytoplasm) and minor polar body are produced as a result of meiosis I, and again following meiosis II. Since only oocytes will go on to form embryos if fertilized, this unequal...
63.7K
Meiosis I
193.6K
Meiosis is a carefully orchestrated set of cell divisions, the goal of which—in humans—is to produce haploid sperm or eggs, each containing half the number of chromosomes present in somatic cells elsewhere in the body. Meiosis I is the first such division, and involves several key steps, among them: condensation of replicated chromosomes in diploid cells; the pairing of homologous chromosomes and their exchange of information; and finally, the separation of homologous chromosomes by...
193.6K
Menopause
166
Menopause, a natural biological process marking the end of a woman's fertility, typically occurs between the fifth and sixth decade of life. This phase is characterized by the exhaustion of the ovarian follicle pool, leading to less responsive ovaries despite the high levels of Follicle Stimulating Hormone (FSH) and Luteinizing Hormone (LH). The consequential decrease in estrogen production results in symptoms like hot flashes, heavy sweating, headaches, hair loss, muscle pains, vaginal...
166
X and Y Chromosomes
26.0K
Among mammals, the gender of an organism is determined by the sex chromosomes. Humans have two sex chromosomes, X and Y. Every human diploid cell has 22 pairs of autosomes and one pair of sex chromosomes. A human female has two X chromosomes, while a male has one X chromosome and one Y chromosome.
The germline cells such as egg and sperm cells carry only half the number of chromosomes, i.e., 22 autosomes and one sex chromosome. All eggs have an X chromosome, while sperm cells can carry an X or...
The germline cells such as egg and sperm cells carry only half the number of chromosomes, i.e., 22 autosomes and one sex chromosome. All eggs have an X chromosome, while sperm cells can carry an X or...
26.0K


