Male infertility with normal virilization due to meiosis defect

Male infertility with normal virilization due to meiosis defect (Orphanet code 217034) is a rare genetic condition in which affected males present with infertility despite having normal masculine physical development (virilization). This means that secondary sexual characteristics such as body hair, muscle mass, voice deepening, and external genital development are entirely normal, and testosterone levels are typically within the normal range. The underlying problem lies in a defect in meiosis — the specialized cell division process required to produce sperm cells (spermatozoa). Because meiosis is disrupted, sperm production is severely impaired, leading to azoospermia (absence of sperm in the ejaculate) or severe oligozoospermia (very low sperm count), which results in infertility. The reproductive system is the primary body system affected. Testicular biopsy in affected individuals typically reveals maturation arrest at various stages of meiosis, meaning that germ cells fail to complete the divisions necessary to form mature spermatozoa. The condition is distinguished from other causes of male infertility by the combination of normal androgen function (normal virilization and hormonal profile) with isolated spermatogenic failure due to a specific meiotic defect. Several genes involved in meiotic processes have been implicated in different families. Currently, there is no curative treatment that can restore normal meiosis in affected individuals. Management focuses on reproductive counseling and assisted reproductive technologies. In some cases where residual spermatogenesis exists, testicular sperm extraction (TESE) combined with intracytoplasmic sperm injection (ICSI) may offer a chance of biological parenthood, though success depends on the severity of the meiotic arrest. Genetic counseling is recommended for affected individuals and their families.

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