PMID: 8591113Feb 1, 1995Paper

Laparoscopic surgery and DNA analysis in patients with XY pure gonadal dysgenesis

The Journal of Obstetrics and Gynaecology
O TsutsumiY Taketani

Abstract

The sex-determining region on the Y chromosome (SRY) encodes a gene that has many of the properties expected of the testis-determining factor. The XY pure gonadal dysgenesis is characterized by streak gonads in phenotypic females who lack the somatic abnormalities and short stature associated with Turner's syndrome. Abnormalities within the SRY have been described in these patients. However, we have experienced several patients with short stature whose SRY are apparently normal. The DNA sequencing of the SRY gene showed a 100% nucleotide sequence identity with the reported cloned sequence. Sex reversal in two of the present cases may be due to mutation at a locus other than SRY in the sex determining pathway, a gene potentially involved in the determination of human constitution. The risk of developing malignancy in the dysgenetic gonads has been reported to be 25%, dictating early prophylactic removal of the streaks. Laparoscopic surgery is recommended because of the amount of the surgery and the rapid postoperative recovery of the patient.

References

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Citations

Dec 10, 1998·European Journal of Obstetrics, Gynecology, and Reproductive Biology·A KriplaniD Takkar
Oct 10, 2007·Journal of Pediatric Surgery·Dorota ZieliñskaIzabella Rzepka-Górska
Aug 15, 2003·Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists·Lal K TanwaniSri Prakash L Mokshagundam

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