{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T16:02:44Z","timestamp":1791216164612,"version":"4.1.0"},"reference-count":20,"publisher":"The Endocrine Society","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2011,4,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Context:<\/jats:title><jats:p>The pseudoautosomal regions (PARs) of the Y-chromosome undergo meiotic recombination with the X-chromosome. PAR mutations are associated with infertility and mental and stature disorders.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective:<\/jats:title><jats:p>The aim of the study was to determine whether men with Y-chromosome microdeletions have structural defects in PARs.<\/jats:p><\/jats:sec><jats:sec><jats:title>Design and Participants:<\/jats:title><jats:p>Eighty-seven infertile men with Y-chromosome microdeletions and 35 controls were evaluated for chromosomal rearrangements using commercial or custom (X- and Y-chromosome) array comparative genomic hybridization or by quantitative PCR of selected PAR genes. Multisoftware-defined chromosomal gains or losses were validated by quantitative PCR and FISH.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results:<\/jats:title><jats:p>Array comparative genomic hybridization confirmed the AZF deletions identified by multiplex PCR. All men with Y-chromosome microdeletions and an abnormal karyotype displayed PAR abnormalities, as did 10% of men with Y-chromosome microdeletions and a normal karyotype. None of the control subjects or infertile men without Y-chromosome microdeletions had PAR duplications or deletions. SHOX aberrations occurred in 14 men (nine gains and five losses); four were short in stature (&amp;lt;10th percentile), and one was tall (&amp;gt;95th percentile). In contrast, the height of 23 men with Y-chromosome microdeletions and normal PARs was average at 176.8 cm (50th percentile).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions:<\/jats:title><jats:p>Y-chromosome microdeletions can include PAR defects causing genomic disorders such as SHOX, which may be transmitted to offspring. Previously unrecognized PAR gains and losses in men with Y-chromosome microdeletions may have consequences for offspring.<\/jats:p><\/jats:sec>","DOI":"10.1210\/jc.2010-2018","type":"journal-article","created":{"date-parts":[[2011,1,21]],"date-time":"2011-01-21T03:11:52Z","timestamp":1295579512000},"page":"E674-E679","source":"Crossref","is-referenced-by-count":54,"title":["Aberrations in Pseudoautosomal Regions (PARs) Found in Infertile Men with Y-Chromosome Microdeletions"],"prefix":"10.1210","volume":"96","author":[{"given":"Carolina J.","family":"Jorgez","sequence":"first","affiliation":[{"name":"Scott Department of Urology (C.J.J., J.W.W., A.S., M.T.-L., L.I.L., D.J.L.), Baylor College of Medicine, Houston, Texas 77030;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John W.","family":"Weedin","sequence":"additional","affiliation":[{"name":"Scott Department of Urology (C.J.J., J.W.W., A.S., M.T.-L., L.I.L., D.J.L.), Baylor College of Medicine, Houston, Texas 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Medicine, Houston, Texas 77030;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Mielnik","sequence":"additional","affiliation":[{"name":"Department of Urology (A.M., P.N.S.), Weill Medical College of Cornell University, New York, New York 10065"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sau Wai","family":"Cheung","sequence":"additional","affiliation":[{"name":"Molecular and Human Genetics (J.C.B., S.W.C.), Baylor College of Medicine, Houston, Texas 77030;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ajay K.","family":"Nangia","sequence":"additional","affiliation":[{"name":"Department of Urology (A.K.N.), The University of Kansas Medical Center, Kansas City, Kansas 66160;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter N.","family":"Schlegel","sequence":"additional","affiliation":[{"name":"Department of Urology (A.M., P.N.S.), Weill Medical College of Cornell University, New York, New York 10065"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Larry I.","family":"Lipshultz","sequence":"additional","affiliation":[{"name":"Scott Department of Urology (C.J.J., J.W.W., A.S., M.T.-L., L.I.L., D.J.L.), Baylor College of Medicine, Houston, Texas 77030;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dolores J.","family":"Lamb","sequence":"additional","affiliation":[{"name":"Scott Department of Urology (C.J.J., J.W.W., A.S., M.T.-L., L.I.L., D.J.L.), Baylor College of Medicine, Houston, Texas 77030;"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","reference":[{"key":"2020071614033777200_B1","doi-asserted-by":"crossref","first-page":"1753","DOI":"10.1016\/j.fertnstert.2009.09.006","article-title":"A decade of experience emphasizes that testing for Y microdeletions is essential in American men with azoospermia and severe oligozoospermia.","volume":"94","author":"Stahl","year":"2010","journal-title":"Fertil 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