Abstract

ROJAS, John Jairo; JUBIZ, William  and  ISAZA, Carolina. Gene SRY and absence of testicular tissue in a woman 47XYY with gonadal dysgenesis. Colomb Med [online]. 2005, vol.36, n.1, pp.40-43. ISSN 1657-9534.

This paper reviews current concepts about sex determination and differentiation in males and females. We also present a 13 year old girl, who consulted for short stature and weight gain. She was a Tanner I for breast and pubic hair. There were no signs of androgen excess. Lab showed a high FSH and LH with normal growth hormone. Laparoscopy revealed streak gonads without testicular tissue. Karyotype was 47XYY, with the SRY gene present. Functional studies of the gene to detect mutations were not performed. Patient responded to a combination of estradiol and medroxyprogesterone with normal menses and breast development. This patient is an example of the importance of performing genetic studies in the evaluation of gonadal dysgenesis cases. It is possible that a de novo mutation of the gene, rather than a paternal meiotic nondysjunction was present in our patient.

Keywords : Gonadal dysgenesis; Sex differentiation; 47 XYY karyotype; SRY gene; Primary hypogonadism.

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