17 research outputs found

    45,X/46,XY Mosaicism and Normozoospermia in a Patient with Male Phenotype

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    The phenotypic spectrum of 45,X/46,XY mosaic males varies greatly. Previous reports have only described cases with either oligozoospermia, growth retardation, or elevated gonadotropins. However, the present case presented with normozoospermia, and normal height, sperm DNA fragmentation index (DFI), and gonadotropins. The male and his spouse were referred to The Fertility Clinic, Skive Regional Hospital, due to 2 years of infertility. After failure of several attempts of assisted reproductive treatment (ART), the male underwent genetic analysis. Conventional karyotyping in peripheral lymphocytes yielded a low-grade 45,X/46,XY mosaicism, confirmed by fluorescence in situ hybridization (FISH) showing 6% 45,X cells. A FISH test performed on interphase nuclei from buccal mucosal cells yielded one cell with only one X-signal (0.6%), explaining the normal phenotype of the patient, but not the infertility. FISH test for sperm aneuploidy showed normal range parameters, except for a 10-fold elevated gonosomal nullisomy rate (2.1%). Hence, germinal mosaicism may be an explanation of the infertility of the case. Increased sex nullisomy levels may reflect an aberrant testicular environment compromising fertility even though sperm euploidy rates and other sperm parameters do not preclude a successful treatment with ART. Based on these results, the couple decided to use donor semen for their subsequent intrauterine insemination treatment and obtained a successful pregnancy

    Treatment of Abnormal Vaginal Microbiota before Frozen Embryo Transfer: Case-Report and Minireview to Discuss the Longitudinal Treatment Efficacy of Oral Clindamycin

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    Abnormal vaginal microbiota (AVM) or bacterial vaginosis (BV) might negatively impact reproductive outcomes of in vitro fertilization (IVF). However, before randomized controlled trials are initiated to investigate cause and effect, it is necessary to establish the optimal treatment for AVM. Metronidazole seems ineffective to treat the biofilm in AVM; thus, clindamycin could be suggested as a relevant antibiotic agent for future intervention based studies. In the present case report, we present the first longitudinal follow-up of the vaginal microbiota with molecular methods during and after oral clindamycin treatment. Furthermore, we review the recent literature with the aim to discuss the optimal AVM treatment in a fertility setting. The patient was 40 years old suffering from unexplained secondary infertility. Prior to the present transfer cycle, she had had two failed IVF cycles. The tentative explanation of failed treatment was age-related aneuploidy. However, the patient asked for AVM diagnosis and she was subsequently diagnosed and treated successfully. Unfortunately, the patient did not achieve pregnancy after clindamycin treatment and two subsequent frozen embryo transfer cycles. Taken together, we report an excellent AVM treatment efficacy both short-term and long-term following oral clindamycin treatment. We discuss the potential impact on the vaginal microbiota of co-treatment with estrogen patches in the stimulated frozen embryo transfer cycle. Furthermore, we discuss future aspects of AVM treatment such as the potential impact of estrogen and live biotherapeutic products to positively modulate the microbiota of the reproductive tract
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