The Genetic and Phenotypic Basis of Infertility in Men With Pediatric Urologic Disorders

Department of Urology, Stanford University School of Medicine, Stanford, CA 94305, USA.
Urology (Impact Factor: 2.13). 05/2010; 76(1):25-31. DOI: 10.1016/j.urology.2010.03.011
Source: PubMed

ABSTRACT Male factor is a major component of infertility for many couples. The presence of congenital genitourinary anomalies in male partners can cause male infertility. We reviewed the state-of-the-art treatment and outcomes for male infertility caused by pediatric urologic disorders. Disorders were classified by whether they led to infertility through pre-testis, testicular, or post-testis effects. Despite the complexity of pediatric urologic disorders that can affect fertility, natural paternity and paternity through assisted reproductive technology are common. Given the significant recent advances in infertility treatments, paternity with many currently untreatable pediatric disorders is likely in the future.

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    Reproduction 01/2012; 144:385-392. · 3.26 Impact Factor
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    ABSTRACT: Cell transplantation into the seminiferous tubules is a useful technique for the study of physiological and pathological conditions affecting the testis. However, the precise three-dimensional organization and, particularly, the complex connectivity of the seminiferous network have not yet been thoroughly characterized. To date, the technical approaches to address these issues have included manual dissection under the stereomicroscope, reconstruction of histological serial sections, and injection of contrast dyes, but all of them have yielded only partial information. Here, using an approach based on the microinjection of a self-polymerizing resin followed by chemical digestion of the surrounding soft tissues, we reveal fine details of the seminiferous tubule scaffold and its connections. These replicas of the testis seminiferous network were studied by scanning electron microscopy. The present results not only establish a morphological basis for more precise microinjection into the mouse seminiferous tubules but also enable a more profound investigation of physiological and embryological features of the testis.
    Reproduction 06/2012; 144(3):385-92. DOI:10.1530/REP-12-0043 · 3.26 Impact Factor
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    ABSTRACT: Infertility is common among couples, about one third of cases are the result of solely male factors, and rarely abnormalities of genetic karyotypes are the root cause. Individuals with a 45X,/46,XY mosaiscism are rare in the literature and very few have fertile potential. We discuss a case of a 27-year-old male with known mixed gonadal dysgenesis, 50:50 split mosaiscism of 45,X/46,XY, presenting for evaluation of 1.5 year history of infertility. He demonstrated low volume non-obstructive azoospermia. Upon testicular biopsy, spermatozoa were extracted. These sperm were subjected to aneuploidy studies demonstrating 95.95% euploidy. The sperm were further assessed and placed in cryopreservation after being deemed sufficient for potential intracytoplasmic sperm injection. This is a unique case of viable sperm in a man with mixed gonadal dysgenesis, 45,X/46,XY mosaiscism.
    Canadian Urological Association journal = Journal de l'Association des urologues du Canada 02/2014; 8(1-2):E108-E110. DOI:10.5489/cuaj.1574 · 1.92 Impact Factor


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May 31, 2014