PMID- 21705820
OWN - NLM
STAT- MEDLINE
DCOM- 20111027
LR  - 20120808
IS  - 1576-8260 (Electronic)
IS  - 0004-0614 (Linking)
VI  - 64
IP  - 5
DP  - 2011 Jun
TI  - 46,XX T testicular disorder of sex development. Case report.
PG  - 468-73
AB  - OBJECTIVE: We present a case of X-Y translocation with male phenotype (46,XX 
      testicular disorder of sex development) and review the literature. METHODS: 
      Disorders of sex development with mismatch of genetic, gonadal and phenotypic sex 
      are quite rare, and some are due to genetic or chromosomal abnormalities. The 
      karyotype was investigated by a cytogenetic study of peripheral blood 
      (phytohemagglutinin-timulated lymphocyte culture over 72 hours). G-banding 
      analysis of 25 metaphases showed a 46,XX chromosome constitution (46 chromosomes 
      with XX sexual composition). Fluorescence in situ hybridization (FISH) analysis 
      with probes for X centromeres and the sex-determining region of the Y chromosome 
      (SRY) (testis-determining factor gene) showed two X chromosomes. The analysis 
      also showed the SRY signal in the telomeric region of the short arm of one of the 
      chromosomes. RESULTS: In recent years, a number of other genes involved in 
      disorders of sex development in animals and humans have also been identified. 
      Genetic defects in the peptide hormone receptors, members of the steroid receptor 
      superfamily, and other transcription factors, as well as any of a series of 
      enzymes and cofactors involved in steroid biosynthesis can cause abnormal 
      determination and differentiation. CONCLUSIONS: Although chromosomal 
      abnormalities are rarely present in patients with apparently normal external 
      genitalia, they should be considered in urology consultations by adolescents and 
      adults, particularly in the investigation of gynecomastia or infertility.
FAU - Pastor Guzman, Jose Maria
AU  - Pastor Guzman JM
AD  - Department of Urology Complejo Hospitalario Universitario de Albacete, Spain.
FAU - Pastor Navarro, Hector
AU  - Pastor Navarro H
FAU - Quintanilla Mata, Maria Luisa
AU  - Quintanilla Mata ML
FAU - Carrion Lopez, Pedro
AU  - Carrion Lopez P
FAU - Martinez Ruiz, Jesus
AU  - Martinez Ruiz J
FAU - Martinez Sanchiz, Carlos
AU  - Martinez Sanchiz C
FAU - Peran Teruel, Miguel
AU  - Peran Teruel M
FAU - Virseda Rodriguez, Julio Antonio
AU  - Virseda Rodriguez JA
LA  - eng
LA  - spa
PT  - Case Reports
PT  - Journal Article
PL  - Spain
TA  - Arch Esp Urol
JT  - Archivos espanoles de urologia
JID - 0064757
RN  - 0 (Gonadal Steroid Hormones)
SB  - IM
MH  - 46, XX Testicular Disorders of Sex Development/genetics/*pathology/surgery
MH  - Atrophy
MH  - Azoospermia/etiology
MH  - Gonadal Steroid Hormones/blood
MH  - Humans
MH  - Leydig Cells/pathology
MH  - Male
MH  - Penis/pathology
MH  - Prosthesis Implantation
MH  - Testis/pathology/surgery
MH  - Young Adult
EDAT- 2011/06/28 06:00
MHDA- 2011/10/28 06:00
CRDT- 2011/06/28 06:00
PHST- 2011/06/28 06:00 [entrez]
PHST- 2011/06/28 06:00 [pubmed]
PHST- 2011/10/28 06:00 [medline]
PST - ppublish
SO  - Arch Esp Urol. 2011 Jun;64(5):468-73.