PMID- 12818524
OWN - NLM
STAT- MEDLINE
DCOM- 20040220
LR  - 20191107
IS  - 0003-3995 (Print)
IS  - 0003-3995 (Linking)
VI  - 46
IP  - 1
DP  - 2003 Jan-Mar
TI  - Skewed X-chromosome inactivation pattern in SRY positive XX maleness: a case 
      report and review of literature.
PG  - 11-8
AB  - XX maleness is the most common condition in which testes develop in the absence 
      of a cytogenetically detectable Y chromosome. Using fluorescence in situ 
      hybridization (FISH) or PCR, it was possible to detect the transfer of Yp 
      fragments including SRY gene to the terminal part of X chromosome in the majority 
      of XX males. We report a 32-year-old-male in whom a seminal analysis showed 
      azoospermia, an X chromatin analysis showed 44% of Barr body positive nuclei and 
      a chromosomal analysis revealed a 46,XX karyotype. Physical examination showed a 
      normal sexual development and bilateral small testes. Hormonal studies revealed 
      hypergonadotropic hypogonadism. Testis histological examination showed a profile 
      of Sertoli Only Cell Syndrome. FISH study ruled out the presence of a Y-bearing 
      cell line, and confirmed translocation of SRY to Xp terminal part. In order to 
      confirm that the complete masculinized phenotype was related to a preferential 
      inactivation of the no rearranged X chromosome, X-chromosome inactivation 
      patterns (XCIP) were studied by analysis of methylation status of the androgen 
      receptor gene. Highly skewed XCIP was observed by greater than 90% preferential 
      inactivation involving one of the two X chromosomes, suggesting that the 
      SRY-bearing X chromosome was the preferentially active X allowing for sufficient 
      SRY expression for complete masculinization.
FAU - Bouayed Abdelmoula, Nouha
AU  - Bouayed Abdelmoula N
AD  - Laboratoire d'Histologie Embryologie, Faculte de Medecine de Sfax, Avenue Magida 
      Boulila, CP 3029, Sfax, Tunisia. nouha_abdelmoulabouayed@yahoo.fr 
      <nouha_abdelmoulabouayed@yahoo.fr>
FAU - Portnoi, Marie-France
AU  - Portnoi MF
FAU - Keskes, Leila
AU  - Keskes L
FAU - Recan, Dominique
AU  - Recan D
FAU - Bahloul, Ali
AU  - Bahloul A
FAU - Boudawara, Tahia
AU  - Boudawara T
FAU - Saad, Ali
AU  - Saad A
FAU - Rebai, Tarek
AU  - Rebai T
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Review
PL  - Netherlands
TA  - Ann Genet
JT  - Annales de genetique
JID - 0370562
RN  - 0 (Receptors, Androgen)
SB  - IM
MH  - Adult
MH  - Chromosomes, Human, X
MH  - DNA Methylation
MH  - *Disorders of Sex Development/*genetics
MH  - *Dosage Compensation, Genetic
MH  - *Genes, sry
MH  - Humans
MH  - Karyotyping
MH  - Male
MH  - Oligospermia/genetics
MH  - Receptors, Androgen/*genetics/metabolism
MH  - Semen/*metabolism
MH  - *Sex Determination Processes
MH  - Syndrome
RF  - 20
EDAT- 2003/06/24 05:00
MHDA- 2004/02/21 05:00
CRDT- 2003/06/24 05:00
PHST- 2003/06/24 05:00 [pubmed]
PHST- 2004/02/21 05:00 [medline]
PHST- 2003/06/24 05:00 [entrez]
AID - S000339950300011X [pii]
AID - 10.1016/s0003-3995(03)00011-x [doi]
PST - ppublish
SO  - Ann Genet. 2003 Jan-Mar;46(1):11-8. doi: 10.1016/s0003-3995(03)00011-x.