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Gonadal dysgenesis
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A new study of disorders of sex development presents an improved targeted next-generation sequencing approach for their diagnosis. Disorders of (or differences in) sex development (DSD) are a broad range of conditions that can affect reproductive development and function in humans.
3p
vialfrednobel
29-01-2022
12
0
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Individuals with 46,XY complete gonadal dysgenesis (CGD) are at high risk of developing gonadal neoplasms. Chromosome 9p monosomy with deletion of the DMRT1 gene, a key transcription factor in testicular development, is one of the known causes of 46,XY CGD. Noninvasive prenatal testing (NIPT) is being increasingly used, and can identify disorders of sexual development (DSDs).
4p
caothientrangnguyen
09-05-2020
18
1
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The aim of this study was to review the growth data, gonadal function and tumour risk of children and adolescents with 45,X/46,XY mosaicism who presented to a single centre in China.
7p
virome2711
13-01-2020
8
1
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