Abstract
Restaurative reproductive medicine places the effort in evaluating and treating women with infertility to identify and treat the underlying causes in a couple-centered approach. IVF centers usually screen patients to receive treatments based on their age and antimullerian hormone (AMH) values, skipping over the root causes. Triple X syndrome (47, XXX) is a sex chromosome aneuploidy in which females have an additional X chromosome, in contrast to 46, XX karyotype in typical females. Its incidence is 1 in 1000 female births, being the most common, but underdiagnosed sex chromosome disorder. The majority of girls with triple X syndrome remain undiagnosed until adulthood when the genetic defect is discovered for other reasons like infertility. Our patient was diagnosed as diminished ovarian reserve (DOR) and she received unsuccessful treatments using assisted reproductive technology (ART) for years, but following our medical perspective, we found out that she was a triple X mosaic female. A 41 y/o woman with infertility, the couple had been trying to conceive for 8 years. She reported a normal menarche at 10y/o and regular menses . She had normal height ,weight and intellectual and social behavior. Medical history: Abortion 21 y/o same partner. 01 Intrauterine insemination and 02 IVF attempts without success. Physical exam, 1,58cm and 64 kg. Other findings unremarkable. Laboratory: Antimullerian hormone: 0,23 ng/ml Vitamin D: 23.9 ng/ml. Transvaginal ultrasound: Normal.
Interventions
Medical record, laboratory findings, imaging studies , G-banding karyotype.
Results
A triple X chromosomal mosaicism 47, XXX[3] / 46, XX [47] was found in the cytogenetic studies In patients with a very low AMH value, unexplained or partially explained infertility, parental karyotyping should be performed after individual assessment of the risk, in order to give an accurate diagnosis and prognosis, even in a phenotypically normal woman. The so called “diminished ovarian reserve” based on the AMH values, does not explain infertility per se and we recommend a complete and expanded infertility work-up, considering a couple-centered approach, mainly in patients with long-term infertility.
