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Approach to male infertility and induction of spermatogenesis.

ABSTRACT: Male subfertility is common, and it causes significant duress to couples. Although the most common cause of male subfertility is idiopathic failure of spermatogenesis, a significant percentage of male subfertility is medically treatable. Compared to reproductive specialists, endocrinologists may see a population of men that have a higher prevalence of treatable causes of subfertility including sexual disorders, endocrinopathies, obesity, drugs, and ejaculatory dysfunction. Seminal fluid analysis is the most important diagnostic study, and at least 2 samples should be analyzed. All patients with sperm concentrations < 10 million/mL due to idiopathic spermatogenic defects should be referred for genetic counseling and karyotyping; most experts also recommend that these patients be tested for Y chromosomal microdeletions. For most men with low sperm concentrations due to gonadotropin deficiency, gonadotropin therapy effectively increases spermatogenesis. The endocrinologist must recognize when to use medical therapy to stimulate spermatogenesis and when to refer for consideration of assisted reproductive technology.

SUBMITTER: Anawalt BD

PROVIDER: S-EPMC3763976 | biostudies-literature | 2013 Sep

REPOSITORIES: biostudies-literature

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Approach to male infertility and induction of spermatogenesis.

Anawalt Bradley D BD

The Journal of clinical endocrinology and metabolism 20130901 9

Male subfertility is common, and it causes significant duress to couples. Although the most common cause of male subfertility is idiopathic failure of spermatogenesis, a significant percentage of male subfertility is medically treatable. Compared to reproductive specialists, endocrinologists may see a population of men that have a higher prevalence of treatable causes of subfertility including sexual disorders, endocrinopathies, obesity, drugs, and ejaculatory dysfunction. Seminal fluid analysis ...[more]

PMID: 24014811

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Project description:Normal function of the C-terminal Eps15 homology domain-containing protein 1 (EHD1) has previously been associated with endocytic vesicle trafficking, shaping of intracellular membranes, and ciliogenesis. We recently identified an autosomal recessive missense mutation c.1192C>T (p.R398W) of EHD1 in patients who had low molecular weight proteinuria (0.7-2.1 g/d) and high-frequency hearing loss. It was already known from Ehd1 knockout mice that inactivation of Ehd1 can lead to male infertility. However, the exact role of the EHD1 protein and its p.R398W mutant during spermatogenesis remained still unclear. Here, we report the testicular phenotype of a knockin mouse model carrying the p.R398W mutation in the EHD1 protein. Male homozygous knockin mice were infertile, whereas the mutation had no effect on female fertility. Testes and epididymes were significantly reduced in size and weight. The testicular epithelium appeared profoundly damaged and had a disorganized architecture. The composition of developing cell types was altered. Malformed acrosomes covered underdeveloped and misshaped sperm heads. In the sperm tail, midpieces were largely missing indicating disturbed assembly of the sperm tail. Defective structures, i.e., nuclei, acrosomes, and sperm tail midpieces, were observed in large vacuoles scattered throughout the epithelium. Interestingly, cilia formation itself did not appear to be affected, as the axoneme and other parts of the sperm tails except the midpieces appeared to be intact. In wildtype mice, EHD1 co-localized with acrosomal granules on round spermatids, suggesting a role of the EHD1 protein during acrosomal development. Wildtype EHD1 also co-localized with the VPS35 component of the retromer complex, whereas the p.R398W mutant did not. The testicular pathologies appeared very early during the first spermatogenic wave in young mice (starting at 14 dpp) and tubular destruction worsened with age. Taken together, EHD1 plays an important and probably multifaceted role in spermatogenesis in mice. Therefore, EHD1 may also be a hitherto underestimated infertility gene in humans.

Dataset Information

Approach to male infertility and induction of spermatogenesis.

Publications

Approach to male infertility and induction of spermatogenesis.

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