A novel 15bp micro-duplication in SF-1 gene showing diverse phenotypic spectrum in a Chinese family

Abstract

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.

Conclusion. 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.

Keywords:

• Chinese
• mutation
• sex reversal
• SF-1
• 46,XY

Acknowledgements

The authors thank Yong-Quan Xue (Department of Hematology, 1st Affiliated Hospital of Nanjing Medical University, China) for the help in the detection of whole chromosome painting. This study was supported by Grant of Natural Science of Jiangsu Province (BK2008179), Item for Suzhou Talented Person in High Level, Center for Reproduction and Genetics, Nanjing Medical University Affiliated Suzhou Hospital, Suzhou, China.

Supplementary note from the authors:

The reason for including this supplementary note is because in our original paper (above), based on pelvic floor ultra-sound, “the presence of ovary tissues” was documented on both patients. At the time of submission of this paper to the Journal of Maternal-Fetal & Neonatal Medicine, further invasive follow-up by laparoscope was rejected by both patients. Therefore, based on our initial findings, we described the presence of ovary tissue by ultra-sound and in fact the presence of ovary tissue is not common among this group of 46, XY female. However, in September 2010, after our original paper was first published Early Online (on 30th March 2010, DOI: 10.3109/14767051003678184) and indexed in PubMed, one of the patients carrying the 15bp deletion (Patient 2) visited our clinic for follow-up and agreed for laparoscopic surgery. Subsequently, no ovary tissues were observed, which is quite different from what we previously observed from the ultrasound imaging. In this regard, according to the original paper published Early Online, readers might have an “impression” that 46, XY female carrying our reported novel 15bp deletion in SF-1 will have this “unique” phenotype with presence of ovary tissue. Therefore, it is important for us to include this latest finding and this is the main reason for the authors adding this supplementary note to clarify.

The online and print versions of our published paper have been updated with this supplementary note from the authors.