患有NR5A1变异的个体与或没有性别发育差异的脏功能下降:一个横截面研究
Martine Cools1, Celien Grijp1, Jana Neirinck2
1Department of Internal Medicine and Pediatrics, Pediatric Endocrinology Service, Ghent University, Ghent University Hospital, 9000 Ghent, Belgium.
European journal of endocrinology
|December 21, 2023
概括
患有NR5A1变异的个体,导致性别发育差异 (DSD),面临脏功能障碍的高风险. 早期评估和预防对于预防这些患者和携带者感染至关重要.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 遗传学 是一个
- 免疫学 免疫学 免疫学
背景情况:
- NR5A1是性别分化和脏发育的关键基因.
- 有关NR5A1变异和性别发育差异 (DSD) 个体的脏异常存在担忧.
研究的目的:
- 为了评估由于NR5A1变异的DSD患者的脏解剖学和功能.
- 评估NR5A1变种无症状携带者的脏状况.
主要方法:
- 对22名DSD/初级卵巢缺陷患者和来自18个家庭的5名无症状携带者进行横截面研究.
- 通过超声波评估脏解剖学;通过血液计数,B细胞分析,抗体反应和红细胞形态评估脏功能.
主要成果:
- 异卵性NR5A1变异携带者显示减少非切换记忆B细胞,50%患有血栓细胞瘤和脏低成形.
- 同性合体的个体,特别是具有p.(Arg103Gln) 变异的个体,表现出asplenia.
结论:
- 异性NR5A1变体具有显著的功能性低排列症风险,无论性腺表型如何.
- 对于患有NR5A1变体的个体,建议对脏功能进行评估和感染预防.
- 同胞性NR5A1变种导致更严重的形表型,包括形.
相关概念视频
RNA Splicing
56.4K
Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...
56.4K
Alternative RNA Splicing
21.2K
Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
21.2K
Rh Blood Group
1.5K
The Rhesus (Rh) antigen is crucial in determining blood groups and ensuring compatibility during blood transfusions.
1.5K
The Y Chromosome Determines Maleness
6.6K
The Y chromosome is a sex chromosome found in several vertebrates and mammals, including humans. In addition to 22 pairs of autosomes, the human males have one X chromosome and one Y chromosome. In these organisms, the presence or absence of the Y chromosome determines the development of male traits.
Evolution
Around 300 million years ago, the two sex chromosomes diverged from two identical autosomal chromosomes. Over time, the Y chromosome has lost most of its genes, shrinking in size....
Evolution
Around 300 million years ago, the two sex chromosomes diverged from two identical autosomal chromosomes. Over time, the Y chromosome has lost most of its genes, shrinking in size....
6.6K
Dosage Compensation
6.2K
In animals, gender is determined by the number and type of sex chromosome. For example, human females have two X chromosomes, and males have one X and one Y chromosome, whereas C.elegans with one X chromosome is a male, and the one with two X chromosomes is a hermaphrodite.
In addition to sexual development, the X chromosome has genes involved in autosomal functions such as brain development and the immune system. Therefore, males and females with distinct numbers of X chromosomes will...
In addition to sexual development, the X chromosome has genes involved in autosomal functions such as brain development and the immune system. Therefore, males and females with distinct numbers of X chromosomes will...
6.2K


