SciELO - Scientific Electronic Library Online

vol.125 issue2Does sodium nitroprusside kill babies? A systematic reviewThe role of physician counseling in improving adherence to physical activity among the general population author indexsubject indexarticles search
Home Pagealphabetic serial listing  

Services on Demand




Related links


Sao Paulo Medical Journal

Print version ISSN 1516-3180On-line version ISSN 1806-9460


RAMOS, Ester Silveira. Turner syndrome: counseling prior to oocyte donation. Sao Paulo Med. J. [online]. 2007, vol.125, n.2, pp.112-114. ISSN 1806-9460.

Ovarian failure is a typical feature of Turner syndrome (TS). Patients are followed clinically with hormone replacement therapy (HRT) and inclusion in the oocyte donation program, if necessary. For patients with spontaneous puberty, genetic counseling regarding preimplantation genetic diagnosis and prenatal diagnosis is indicated. Patients with dysgenetic gonads and a Y chromosome are at increased risk of developing gonadoblastoma. Even though this is not an invasive tumor, its frequent association with other malignant forms justifies prophylactic gonadectomy. It is important to perform gonadectomy before HRT and pregnancy with oocyte donation. Among patients with TS stigmata and female genitalia, many have the Y chromosome in one of the cell lines. For this reason, all patients should undergo cytogenetic analysis. Nevertheless, in cases of structural chromosomal alterations or hidden mosaicism, the conventional cytogenetic techniques may be ineffective and molecular investigation is indicated. The author proposes a practical approach for investigating women with TS stigmata in whom identification of the X or Y chromosome is important for clinical management and follow-up.

Keywords : Turner syndrome; Oocyte donation; Gonadoblastoma; Counseling; Y chromosome.

        · abstract in Portuguese     · text in English     · English ( pdf )


Creative Commons License All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License