A Rare Cause of Male Infertility: Mixed Gonadal Dysgenesis

Abstract: Infertility is a significant health problem that affects many couples in the reproductive age range globally. While only the male factor is responsible for 20%-30% of cases of infertility, contributing to a further 20%. We aimed to describe a rare cause of male infertility, a male patient with 45,X/46,XY mosaic chromosome structure. The patient presented to our endocrinology department due to infertility. Phenotypically, the patient appeared as a normal male with normal development of the penis and secondary sex characteristics. Both testicles were small in the scrotum. Azoospermia was detected in the spectrogram. The patient underwent testicular sperm extraction using microdissection, but spermatozoa were not found in either of the testicles. In the cytogenetic and molecular cytogenetic examination of the patient’s peripheral blood, the chromosome structure was reported as a 45,X[22]/46,XY[8] mosaic karyotype, and Y microdeletion. 45,X/46,XY, sometimes called mixed gonadal dysgenesis, affects hormonal balance, gonadal development, growth, and fertility, and presents a wide range of clinical manifestations. Similar to our case, these patients may have an entirely male phenotype. Even when the patient exhibits phenotypical normal male characteristics, karyotype anomalies should always be considered when evaluating the infertility associated with azoospermia.

Cite this article as: Erdoğan Eroğlu C, Görar S, Paksoy B. A rare cause of male infertility: Mixed gonadal dysgenesis. Endocrinol Res Pract. 2024;28(2):130-132.