Hormonal and ultrasound markers of ovarian function in a woman with a balanced 1;11 translocation.
OBJECTIVE
To present a case of a poor responder woman with a rare balanced autosomal translocation.


METHODS
Case report.


METHODS
Infertility center in a university teaching hospital.


METHODS
A 34-year-old white woman with primary infertility.


METHODS
Laboratory and ultrasound evaluation, karyotype analysis, ovarian stimulation with gonadotropins.


METHODS
Markers of ovarian reserve and ovarian response to gonadotropin stimulation.


RESULTS
The patient was a carrier of a balanced translocation (1;11) (q23;p11.2). The hormone ovarian reserve markers (FSH, anti-Mullerian hormone, inhibin B) were within the normal range. The antral follicle count (AFC) was measured twice and only in one occasion did it reach the lower limit of the normal range. Furthermore, the patient had regular menstrual cycles. However, ovarian response to the administration of a maximal dose FSH was extremely poor.


CONCLUSIONS
Patients with balanced autosomal translocations should be counseled regarding their increased risk for poor response even if markers of ovarian reserve are in the range of normality.
D'Ippolito
Giovanni
G
Mother Infant Department, Institute of Obstetrics and Gynecology, University of Modena and Reggio Emilia, Policlinico di Modena, Modena, Italy. giovanni_dippolito@yahoo.it
Tirelli
Alessandra
A
Giulini
Simone
S
Volpe
Annibale
A
La Marca
Antonio
A
D000328:Adult; D015415:Biomarkers / Q000032:analysis* / Q000097:blood; D002452:Cell Count; D002878:Chromosomes, Human, Pair 1; D002880:Chromosomes, Human, Pair 11; D005260:Female; D006728:Hormones / Q000032:analysis / Q000097:blood; D006801:Humans; D007247:Infertility, Female / Q000097:blood* / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology; D010053:Ovary / Q000000981:diagnostic imaging / Q000473:pathology / Q000502:physiology*; D014178:Translocation, Genetic; D014463:Ultrasonography
D015415:Biomarkers; D006728:Hormones