PMID- 18391513
OWN - NLM
STAT- MEDLINE
DCOM- 20080623
LR  - 20211203
IS  - 1661-5433 (Electronic)
IS  - 1661-5425 (Linking)
VI  - 1
IP  - 1
DP  - 2007
TI  - Extended pedigree with multiple cases of XX sex reversal in the absence of SRY 
      and of a mutation at the SOX9 locus.
PG  - 24-34
LID - 10.1159/000096236 [doi]
AB  - It is well established that testicular differentiation of the human embryonic 
      gonad depends on the action of the Y-chromosomal gene SRY. However, exceptional 
      cases such as SRY-negative cases of 46,XX testicular disorder of sexual 
      development (DSD), and of 46,XX ovotesticular DSD document that testicular tissue 
      can develop in the absence of the SRY gene. These SRY-negative XX sex reversal 
      cases are very rare and usually sporadic, but a few familial cases have been 
      reported. We present a large, consanguineous family with nine affected 
      individuals with phenotypes ranging from 46,XX testicular DSD to 46,XX 
      ovotesticular DSD, with predominance of male characteristics. Absence of SRY in 
      peripheral blood was documented by fluorescence in situ hybridization (FISH) and 
      PCR analysis in all nine affected individuals, and by FISH analysis on gonadal 
      sections with testicular tissue in four affected individuals. By quantitative 
      PCR, a duplication of the SOX9 gene was excluded. In addition, as linkage 
      analysis showed that the nine affected members of the family do not share a 
      common SOX9 haplotype, any mutation at the SOX9 locus could be ruled out. 
      Together, these findings implicate a mutation at a sex-determining locus other 
      than SRY and SOX9 as the cause for the XX sex reversal trait in this family.
CI  - (c) 2007 S. Karger AG, Basel
FAU - Temel, S G
AU  - Temel SG
AD  - Medical Genetics Department, Faculty of Medicine, Uludag University, Bursa, 
      Turkey. sehime@uludag.edu.tr
FAU - Gulten, T
AU  - Gulten T
FAU - Yakut, T
AU  - Yakut T
FAU - Saglam, H
AU  - Saglam H
FAU - Kilic, N
AU  - Kilic N
FAU - Bausch, E
AU  - Bausch E
FAU - Jin, W J
AU  - Jin WJ
FAU - Leipoldt, M
AU  - Leipoldt M
FAU - Scherer, G
AU  - Scherer G
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Switzerland
TA  - Sex Dev
JT  - Sexual development : genetics, molecular biology, evolution, endocrinology, 
      embryology, and pathology of sex determination and differentiation
JID - 101316472
RN  - 0 (Doublecortin Domain Proteins)
RN  - 0 (High Mobility Group Proteins)
RN  - 0 (Hormones)
RN  - 0 (Microtubule-Associated Proteins)
RN  - 0 (Neuropeptides)
RN  - 0 (SOX9 Transcription Factor)
RN  - 0 (SOX9 protein, human)
RN  - 0 (Sex-Determining Region Y Protein)
RN  - 0 (Transcription Factors)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Child
MH  - Child, Preschool
MH  - Cytogenetic Analysis
MH  - *Disorders of Sex Development
MH  - Doublecortin Domain Proteins
MH  - Female
MH  - Gene Expression Regulation
MH  - Haplotypes
MH  - High Mobility Group Proteins/*genetics/metabolism
MH  - Hormones/blood
MH  - Humans
MH  - Male
MH  - Microtubule-Associated Proteins/genetics/metabolism
MH  - Mutation/*genetics
MH  - Neuropeptides/genetics/metabolism
MH  - *Pedigree
MH  - Reverse Transcriptase Polymerase Chain Reaction
MH  - SOX9 Transcription Factor
MH  - Sex-Determining Region Y Protein/*deficiency/genetics/metabolism
MH  - Testis/pathology
MH  - Transcription Factors/*genetics/metabolism
EDAT- 2008/04/09 09:00
MHDA- 2008/06/24 09:00
CRDT- 2008/04/09 09:00
PHST- 2006/08/18 00:00 [received]
PHST- 2006/09/25 00:00 [accepted]
PHST- 2008/04/09 09:00 [pubmed]
PHST- 2008/06/24 09:00 [medline]
PHST- 2008/04/09 09:00 [entrez]
AID - 96236 [pii]
AID - 10.1159/000096236 [doi]
PST - ppublish
SO  - Sex Dev. 2007;1(1):24-34. doi: 10.1159/000096236.