PMID- 26260363
OWN - NLM
STAT- MEDLINE
DCOM- 20160624
LR  - 20181113
IS  - 1791-3004 (Electronic)
IS  - 1791-2997 (Print)
IS  - 1791-2997 (Linking)
VI  - 12
IP  - 4
DP  - 2015 Oct
TI  - A duplication upstream of SOX9 was not positively correlated with the 
      SRY‑negative 46,XX testicular disorder of sex development: A case report and 
      literature review.
PG  - 5659-64
LID - 10.3892/mmr.2015.4202 [doi]
AB  - The 46,XX male disorder of sex development (DSD) is rarely observed in humans. 
      Patients with DSD are all male with testicular tissue differentiation. The 
      mechanism of sex determination and differentiation remains to be elucidated. In 
      the present case report, an 46,XX inv (9) infertile male negative for the 
      sex‑determining region of the Y chromosome (SRY) gene was examined. This 
      infertile male was systemically assessed by semen analysis, serum hormone testing 
      and gonadal biopsy. Formalin‑fixed and paraffin‑embedded gonad tissues were 
      assessed histochemically. The SRY gene was analyzed by fluorescence in situ 
      hybridization (FISH) and polymerase chain reaction (PCR). The other 23 specific 
      loci, including the azoospermia factor region on the Y chromosome and the 
      sequence-targeted sites of the SRY‑box 9 (SOX9) gene were analyzed by PCR. The 
      genes RSPO1, DAX1, SOX3, ROCK, DMRT1, SPRY2 and FGF9 were also assessed using 
      sequencing analysis. Affymetrix Cytogenetics Whole Genome 2.7 M Arrays were used 
      for detecting the genomic DNA from the patient and the parents. The patient with 
      the 46,XX inv (9) (p11q13) karyotype exhibited male primary, however, not 
      secondary sexual characteristics. However, the patient's mother with the 46, XX 
      inv (9) karyotype was unaffected. The testicular tissue dysplasia of the patient 
      was confirmed by tissue biopsy and absence of the SRY gene, and the other 23 loci 
      on the Y chromosome were confirmed by FISH and/or PCR. The RSPO1, DAX1, SOX3, 
      ROCK, DMRT1, SPRY2 and FGF9 genes were sequenced and no mutations were detected. 
      A duplication on the 3 M site in the upstream region of SOX9 was identified in 
      the patient as well as in the mother. The patient with the 46,XX testicular DSD 
      and SRY‑negative status was found to be infertile. The duplication on the 3 M 
      site in the upstream region of SOX9 was a polymorphism, which indicated that the 
      change was not a cause of 46,XX male SDS. These clinical, molecular and 
      cytogenetic findings suggested that other unidentified genetic or environmental 
      factors are significant in the regulation of SDS.
FAU - Xia, Xin-Yi
AU  - Xia XY
AD  - Department of Reproduction and Genetics, Institute of Laboratory Medicine, 
      Jinling Hospital, Nanjing University School of Medicine, Nanjing, Jiangsu 210002, 
      P.R. China.
FAU - Zhang, Cui
AU  - Zhang C
AD  - Department of Reproduction and Genetics, Institute of Laboratory Medicine, 
      Jinling Hospital, Nanjing University School of Medicine, Nanjing, Jiangsu 210002, 
      P.R. China.
FAU - Li, Tian-Fu
AU  - Li TF
AD  - Department of Reproduction and Genetics, Institute of Laboratory Medicine, 
      Jinling Hospital, Nanjing University School of Medicine, Nanjing, Jiangsu 210002, 
      P.R. China.
FAU - Wu, Qiu-Yue
AU  - Wu QY
AD  - Department of Reproduction and Genetics, Institute of Laboratory Medicine, 
      Jinling Hospital, Nanjing University School of Medicine, Nanjing, Jiangsu 210002, 
      P.R. China.
FAU - Li, Na
AU  - Li N
AD  - Department of Reproduction and Genetics, Institute of Laboratory Medicine, 
      Jinling Hospital, Nanjing University School of Medicine, Nanjing, Jiangsu 210002, 
      P.R. China.
FAU - Li, Wei-Wei
AU  - Li WW
AD  - Department of Reproduction and Genetics, Institute of Laboratory Medicine, 
      Jinling Hospital, Nanjing University School of Medicine, Nanjing, Jiangsu 210002, 
      P.R. China.
FAU - Cui, Ying-Xia
AU  - Cui YX
AD  - Department of Reproduction and Genetics, Institute of Laboratory Medicine, 
      Jinling Hospital, Nanjing University School of Medicine, Nanjing, Jiangsu 210002, 
      P.R. China.
FAU - Li, Xiao-Jun
AU  - Li XJ
AD  - Department of Reproduction and Genetics, Institute of Laboratory Medicine, 
      Jinling Hospital, Nanjing University School of Medicine, Nanjing, Jiangsu 210002, 
      P.R. China.
FAU - Shi, Yi-Chao
AU  - Shi YC
AD  - Department of Reproduction and Genetics, Suzhou Municipal Hospital, Nanjing 
      Medical University Affiliated Suzhou Hospital, Suzhou, Jiangsu 215002, P.R. 
      China.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20150810
PL  - Greece
TA  - Mol Med Rep
JT  - Molecular medicine reports
JID - 101475259
RN  - 0 (SOX9 Transcription Factor)
RN  - 0 (SOX9 protein, human)
SB  - IM
MH  - 46, XX Testicular Disorders of Sex Development/diagnosis/*genetics/pathology
MH  - Adult
MH  - *Chromosome Duplication
MH  - Gene Expression
MH  - Humans
MH  - Infertility, Male/diagnosis/*genetics/pathology
MH  - Inheritance Patterns
MH  - Karyotyping
MH  - Male
MH  - SOX9 Transcription Factor/*genetics
MH  - Sexual Development/*genetics
MH  - Testis/metabolism/pathology
PMC - PMC4581739
EDAT- 2015/08/12 06:00
MHDA- 2016/06/25 06:00
PMCR- 2015/08/10
CRDT- 2015/08/12 06:00
PHST- 2014/09/29 00:00 [received]
PHST- 2015/06/15 00:00 [accepted]
PHST- 2015/08/12 06:00 [entrez]
PHST- 2015/08/12 06:00 [pubmed]
PHST- 2016/06/25 06:00 [medline]
PHST- 2015/08/10 00:00 [pmc-release]
AID - mmr-12-04-5659 [pii]
AID - 10.3892/mmr.2015.4202 [doi]
PST - ppublish
SO  - Mol Med Rep. 2015 Oct;12(4):5659-64. doi: 10.3892/mmr.2015.4202. Epub 2015 Aug 
      10.