PMID- 25169080
OWN - NLM
STAT- MEDLINE
DCOM- 20150407
LR  - 20220331
IS  - 1471-2490 (Electronic)
IS  - 1471-2490 (Linking)
VI  - 14
DP  - 2014 Aug 28
TI  - Clinical, molecular and cytogenetic analysis of 46, XX testicular disorder of sex 
      development with SRY-positive.
PG  - 70
LID - 10.1186/1471-2490-14-70 [doi]
AB  - BACKGROUND: To review the possible mechanisms proposed to explain the etiology of 
      46, XX sex reversal by investigating the clinical characteristics and their 
      relationships with chromosomal karyotype and the SRY(sex-determining region 
      Y)gene. METHODS: Five untreated 46, XX patients with SRY-positive were referred 
      for infertility. Clinical data were collected, and Karyotype analysis of 
      G-banding in lymphocytes and Fluorescence in situ hybridization (FISH) were 
      performed. Genomic DNA from peripheral blood of the patients using QIAamp DNA 
      Blood Kits was extracted. The three discrete regions, AZFa, AZFb and AZFc, 
      located on the long arm of the Y chromosome, were performed by multiplex 
      PCRs(Polymerase Chain Reaction) amplification. The set of PCR primers for the 
      diagnosis of microdeletion of the AZFa, AZFb and AZFc region included: sY84, 
      sY86, sY127, sY134, sY254, sY255, SRY and ZFX/ZFY. RESULTS: Our five patients had 
      a lower body height. Physical examination revealed that their testes were small 
      in volume, soft in texture and normal penis. Semen analyses showed azoospermia. 
      All patients had a higher follicle-stimulating hormone(FSH), Luteinizing 
      Hormone(LH) level, lower free testosterone, testosterone level and normal 
      Estradiol, Prolactin level. Karyotype analysis of all patients confirmed 46, XX 
      karyotype, and FISH analysis showed that SRY gene were positive and translocated 
      to Xp. Molecular analysis revealed that the SRY gene were present, and the AZFa, 
      AZFb and AZFc region were absent. CONCLUSIONS: This study adds cases on the five 
      new 46, XX male individuals with SRY-positive and further verifies the view that 
      the presence of SRY gene and the absence of major regions in Y chromosome should 
      lead to the expectance of a completely masculinised phenotype, abnormal hormone 
      levels and infertility.
FAU - Wu, Qiu-Yue
AU  - Wu QY
FAU - Li, Na
AU  - Li N
FAU - Li, Wei-Wei
AU  - Li WW
FAU - Li, Tian-Fu
AU  - Li TF
FAU - Zhang, Cui
AU  - Zhang C
FAU - Cui, Ying-Xia
AU  - Cui YX
FAU - Xia, Xin-Yi
AU  - Xia XY
AD  - Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of 
      Medicine, 305 East Zhongshan Road, Nanjing 210002, PR China. 
      xinyixia78@gmail.com.
FAU - Zhai, Jin-Sheng
AU  - Zhai JS
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20140828
PL  - England
TA  - BMC Urol
JT  - BMC urology
JID - 100968571
RN  - 0 (Gonadal Steroid Hormones)
RN  - 0 (Gonadotropins, Pituitary)
SB  - IM
MH  - 46, XX Testicular Disorders of Sex Development/*genetics
MH  - Chromosomes, Human, Y/genetics
MH  - Gene Deletion
MH  - *Genes, sry
MH  - Gonadal Steroid Hormones/blood
MH  - Gonadotropins, Pituitary/blood
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infertility, Male/*genetics
MH  - Karyotyping
MH  - Male
MH  - Phenotype
MH  - Polymerase Chain Reaction
MH  - Translocation, Genetic
PMC - PMC4149805
EDAT- 2014/08/30 06:00
MHDA- 2015/04/08 06:00
PMCR- 2014/08/28
CRDT- 2014/08/30 06:00
PHST- 2014/03/12 00:00 [received]
PHST- 2014/08/16 00:00 [accepted]
PHST- 2014/08/30 06:00 [entrez]
PHST- 2014/08/30 06:00 [pubmed]
PHST- 2015/04/08 06:00 [medline]
PHST- 2014/08/28 00:00 [pmc-release]
AID - 1471-2490-14-70 [pii]
AID - 10.1186/1471-2490-14-70 [doi]
PST - epublish
SO  - BMC Urol. 2014 Aug 28;14:70. doi: 10.1186/1471-2490-14-70.