Genetic causes and management of male infertility

Abstract

Infertility affects approximately 15% of couples. With infertility such a common problem in a generally healthy age group, complete evaluation is needed of both men and women. Infertility work up for men includes a semen analysis, the results of which suggest various supplemental studies, including karyotype. Karyotype is indicated when a patient has findings on history or physical exam concerning for chromosomal abnormalities, azoospermia, or severe oligospermia (count <5 million/mL). The most common chromosomal numerical abnormality found on karyotype is Klinefelter syndrome which is classified as redundant sex chromosomes, with the most common chromosomal arrangement being 47, XXY. If a patient is found to have a chromosomal abnormality such as Klinefelter's, there is still a chance of fertility using testicular sperm extraction and in-vitro fertilization.

Altered Sperm Analysis, Where Are We Now? The Reality of the Reproductive Medicine Unit of a Tertiary University Center

“…Nevertheless, chromosomal deletions, translocations, inversions, and insertions have also been described. 20 Reported karyotypic abnormalities among infertile men is up to 15%, 21 which is in accordance with our findings. In 2017 a case series and literature review of 46, XX patients diagnosed during fertility evaluation reported a total of 55 cases in this setting; thus, with this study, we are adding two more patients to the described ones.…”

“…An OAT was the initial diagnosis, and a shared decision for sperm donation was chosen by the couple due to the low probability of pregnancy after ART and concerns about offspring transmission risks. The absence of a previous diagnosis of all our patients but one Klinefelter patient is consistent with the literature, which reports a low awareness of this condition and a misconception that all these patients have the classical phenotype of gynecomastia, hypogonadism, a tall stature, and limited facial and body hair, 19,20 whilst currently it is well established that it can present with a highly variable phenotype. According to literature, findings of serum testosterone inferior to the normal limit can range from 65 to 85% of adult patients with Klinefelter syndrome.…”

“…The most common chromosomal abnormalities among infertile men are numerical, such as 47, XXY (Klinefelter syndrome), 20 which was also the case in our sample. Nevertheless, chromosomal deletions, translocations, inversions, and insertions have also been described.…”

Reproductive Outcomes of Infertile Males With Novel Genetic Defects

“…Human infertility may have a hereditary component, although the precise defects implicated and the genetic process by which they are transmitted remain unclear [ 6 , 7 ]. The present report aimed to present three cases of male patients who consulted the genetic unit because of infertility problems.…”