PMID- 33912214
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20231111
IS  - 1664-8021 (Print)
IS  - 1664-8021 (Electronic)
IS  - 1664-8021 (Linking)
VI  - 12
DP  - 2021
TI  - Disorder of Sexual Development Males With XYY in Blood Have Exactly X/XY/XYY 
      Mosaicism in Gonad Tissues.
PG  - 616693
LID - 10.3389/fgene.2021.616693 [doi]
LID - 616693
AB  - Y chromosome represents masculinization. The extra Y chromosome of XYY patients 
      usually leads to over-masculinization phenotypes. The occurrence of several DSD 
      cases with XYY in blood is controversial. Is XYY associated with disorder of sex 
      development (DSD)? What is the mechanism behind DSD in males with XYY in blood? 
      To this end, this study retrospectively analyzed blood-karyotype data of 4,437 
      DSD male children and karyotypes data of 6,259 newborn males as the control. 
      Exome sequencing (ES) was performed to test whether the patients with DSD and 
      with XYY in blood had other variants on known DSD-genes. Testicular biopsy was 
      performed. Fluorescence in situ hybridization (FISH) was used to test whether a 
      sex chromosome mosaicism was present in the oral epithelial cells or gonad tissue 
      of patients with DSD and with XYY in blood. Among 4,437 DSD males who received 
      cytogenetic evaluation, 14 patients with 47,XYY were identified. By contrast, 
      five individuals among the 6,259 controls had 47,XYY. XYY in blood is more 
      frequent among males with DSD than in other males (p = 0.004). The XYY karyotypes 
      were confirmed again by GTG-banding in blood samples and by FISH performed on 
      oral epithelial cells. ES on seven XYY DSD patients was successfully performed, 
      but results did not identify any pathogenic variant on 55 known DSD genes. Gonad 
      biopsy (n = 3) revealed testicular dysplasia and true hermaphroditism. FISH of 
      gonad tissues (n = 3) showed that all of the samples had mosaic for X/XY/XYY. 
      This study is the first to investigate the relationship between XYY in blood and 
      DSD. The knowledge that XYY is in the blood and in oral cells have X/XY/XYY 
      mosaicism in gonadal tissue is new for both researchers and clinicians who seek 
      to understand the genetic basis of DSD males.
CI  - Copyright (c) 2021 Yang, Chen, Luo, Zheng, Zheng, Fu, Chen and Luo.
FAU - Yang, Yongjia
AU  - Yang Y
AD  - The Laboratory of Genetics and Metabolism, Hunan Children's Research Institute, 
      Hunan Children's Hospital, University of South China, Changsha, China.
FAU - Chen, Fang
AU  - Chen F
AD  - The Laboratory of Genetics and Metabolism, Hunan Children's Research Institute, 
      Hunan Children's Hospital, University of South China, Changsha, China.
FAU - Luo, Zhenqing
AU  - Luo Z
AD  - The Laboratory of Genetics and Metabolism, Hunan Children's Research Institute, 
      Hunan Children's Hospital, University of South China, Changsha, China.
FAU - Zheng, Yu
AU  - Zheng Y
AD  - The Laboratory of Genetics and Metabolism, Hunan Children's Research Institute, 
      Hunan Children's Hospital, University of South China, Changsha, China.
FAU - Zheng, Jiayong
AU  - Zheng J
AD  - Key Laboratory of Obstetrics and Gynecology, Wenzhou People's Hospital, Wenzhou, 
      China.
FAU - Fu, Yuyan
AU  - Fu Y
AD  - The Laboratory of Genetics and Metabolism, Hunan Children's Research Institute, 
      Hunan Children's Hospital, University of South China, Changsha, China.
FAU - Chen, Weijian
AU  - Chen W
AD  - Department of Pathology, Hunan Children's Hospital, University of South China, 
      Changsha, China.
FAU - Luo, Haiyan
AU  - Luo H
AD  - Center for Diagnosis and Treatment of Rare Diseases, Hunan Children's Hospital, 
      University of South China, Changsha, China.
LA  - eng
PT  - Journal Article
DEP - 20210412
PL  - Switzerland
TA  - Front Genet
JT  - Frontiers in genetics
JID - 101560621
PMC - PMC8072476
OTO - NOTNLM
OT  - DSD
OT  - FISH
OT  - XYY syndrome
OT  - exome sequencing
OT  - gonad biopsy
OT  - mosaicism
COIS- The authors declare that the research was conducted in the absence of any 
      commercial or financial relationships that could be construed as a potential 
      conflict of interest.
EDAT- 2021/04/30 06:00
MHDA- 2021/04/30 06:01
PMCR- 2021/04/12
CRDT- 2021/04/29 06:26
PHST- 2020/10/26 00:00 [received]
PHST- 2021/03/19 00:00 [accepted]
PHST- 2021/04/29 06:26 [entrez]
PHST- 2021/04/30 06:00 [pubmed]
PHST- 2021/04/30 06:01 [medline]
PHST- 2021/04/12 00:00 [pmc-release]
AID - 10.3389/fgene.2021.616693 [doi]
PST - epublish
SO  - Front Genet. 2021 Apr 12;12:616693. doi: 10.3389/fgene.2021.616693. eCollection 
      2021.