A novel 15bp micro-duplication in SF-1 gene showing diverse phenotypic spectrum in a Chinese family.
OBJECTIVE
To determine the genetic cause of sex reversal in a Chinese family.


METHODS
Two sisters aged 21 and 20 years old were referred for primary amenorrhoea and poor secondary sexual development. They were subjected to clinical, endocrinologic and ultrasonographic investigation, and molecular analysis including cytogenetics, array CGH, SRY and SF-1 mutation screening.


RESULTS
A novel 15bp micro-duplication in the SF-1 gene in patients affected by 46,XY sex-reversal phenotype without dysgenesis.


CONCLUSIONS
The novel 15bp duplication of SF-1 gene affecting 46,XY females with diverse phenotypic spectrum. This provides new information for genetic counselling of disorders of sex development.
Li
Hong
H
Center for Reproduction and Genetics, Nanjing Medical University Affiliated Suzhou Hospital, Suzhou 215002, PR China.
Choy
Kwong Wai
KW
Lei
Yun-Ping
YP
Wang
Wei
W
Wang
Hong-Yan
HY
Chen
Ying
Y
D044466:Asian People; D002681:China; D004252:DNA Mutational Analysis; D005260:Female; D020440:Gene Duplication; D006061:Gonadal Dysgenesis, 46,XY / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D010641:Phenotype; D054339:Steroidogenic Factor 1 / Q000235:genetics*; D055815:Young Adult
D054339:Steroidogenic Factor 1