{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,16]],"date-time":"2026-07-16T02:09:03Z","timestamp":1784167743398,"version":"3.55.0"},"reference-count":24,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2024,1,15]],"date-time":"2024-01-15T00:00:00Z","timestamp":1705276800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,3,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Genetic causes account for 10\u201315% of male factor infertility, making the genetic investigation an essential and useful tool, mainly in azoospermic and severely oligozoospermic men. In these patients, the most frequent findings are chromosomal abnormalities and Y chromosome long arm microdeletions, which cause a primary severe spermatogenic impairment with classically increased levels of FSH. On the other hand, polymorphisms in the FSH receptor (FSHR) and FSH beta chain (FSHB) genes have been associated with different FSH plasma levels, due to variations in the receptor sensitivity (FSHR) or in the production of FSH from the pituitary gland (FSHB). Here, we describe an unusual patient with a combined genetic alteration (classic AZFc deletion of the Y chromosome and TT homozygosity for the -211G&amp;gt;T polymorphism in the FSHB gene (rs10835638)), presenting with cryptozoospermia, severe hypospermatogenesis, and normal LH and testosterone plasma concentrations, but low FSH levels. The patient partially benefitted from treatment with FSH (150\u2009IU three times\/week for 6\u2009months) which allowed him to cryopreserve enough motile spermatozoa to be used for intracytoplasmic sperm injection. According to our knowledge, this is the first report of an infertile man with AZFc microdeletion with low FSH plasma concentrations related to homozygosity for the -211G&amp;gt;T polymorphism in the FSHB gene.<\/jats:p>","DOI":"10.1093\/humrep\/dead277","type":"journal-article","created":{"date-parts":[[2024,1,15]],"date-time":"2024-01-15T14:32:52Z","timestamp":1705329172000},"page":"504-508","source":"Crossref","is-referenced-by-count":10,"title":["A cryptozoospermic infertile male with Y chromosome AZFc microdeletion and low FSH levels due to a simultaneous polymorphism in the <i>FSHB<\/i> gene: a case report"],"prefix":"10.1093","volume":"39","author":[{"given":"Andrea","family":"Graziani","sequence":"first","affiliation":[{"name":"Department of Medicine, University of Padova , Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maurizio","family":"Merico","sequence":"additional","affiliation":[{"name":"Department of Systems Medicine, Unit of Andrology and Reproductive Medicine, University Hospital of Padova , Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Grande","sequence":"additional","affiliation":[{"name":"Department of Systems Medicine, Unit of Andrology and Reproductive Medicine, University Hospital of Padova , Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonella","family":"Di Mambro","sequence":"additional","affiliation":[{"name":"Department of Systems Medicine, Unit of Andrology and Reproductive Medicine, University Hospital of Padova , Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cinzia","family":"Vinanzi","sequence":"additional","affiliation":[{"name":"Department of Systems Medicine, Unit of Andrology and Reproductive Medicine, University Hospital of Padova , Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4794-9745","authenticated-orcid":false,"given":"Maria Santa","family":"Rocca","sequence":"additional","affiliation":[{"name":"Department of Systems Medicine, Unit of Andrology and Reproductive Medicine, University Hospital of Padova , Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riccardo","family":"Selice","sequence":"additional","affiliation":[{"name":"Department of Systems Medicine, Unit of Andrology and Reproductive Medicine, University Hospital of Padova , Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5817-8141","authenticated-orcid":false,"given":"Alberto","family":"Ferlin","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of Padova , Padova, Italy"},{"name":"Department of Systems Medicine, Unit of Andrology and Reproductive Medicine, University Hospital of Padova , Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2024,1,15]]},"reference":[{"key":"2024030111171810100_dead277-B1","doi-asserted-by":"crossref","first-page":"700","DOI":"10.1038\/ejhg.2014.142","article-title":"The FSHB \u2212211G&gt;T variant attenuates serum FSH levels in the supraphysiological gonadotropin setting of Klinefelter syndrome","volume":"23","author":"Busch","year":"2015","journal-title":"Eur J Hum Genet"},{"key":"2024030111171810100_dead277-B2","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1007\/s40618-020-01324-3","article-title":"Central hypogonadism in Klinefelter syndrome: report of two cases and review of the literature","volume":"44","author":"Cangiano","year":"2021","journal-title":"J Endocrinol Invest"},{"key":"2024030111171810100_dead277-B3","doi-asserted-by":"crossref","first-page":"516","DOI":"10.5534\/wjmh.200070","article-title":"Combined effects of the FSHR 2039 A\/G and FSHR -29 G\/A polymorphisms on male reproductive parameters","volume":"39","author":"Cannarella","year":"2021","journal-title":"World J Mens Health"},{"key":"2024030111171810100_dead277-B4","doi-asserted-by":"crossref","first-page":"3264","DOI":"10.3390\/ijms22063264","article-title":"Genetics of azoospermia","volume":"22","author":"Cioppi","year":"2021","journal-title":"Int J Mol Sci"},{"key":"2024030111171810100_dead277-B5","doi-asserted-by":"crossref","first-page":"670","DOI":"10.12688\/f1000research.17076.1","article-title":"Recent advances in understanding and managing male infertility","volume":"8","author":"Fainberg","year":"2019","journal-title":"F1000Res"},{"key":"2024030111171810100_dead277-B6","doi-asserted-by":"crossref","first-page":"809","DOI":"10.1017\/S0967199422000302","article-title":"Do follicle-stimulating hormone receptor polymorphisms in infertile men influence intracytoplasmic sperm injection outcomes? A prospective cohort study","volume":"30","author":"Fakih","year":"2022","journal-title":"Zygote"},{"key":"2024030111171810100_dead277-B7","doi-asserted-by":"crossref","first-page":"762","DOI":"10.1210\/jc.2006-1981","article-title":"Molecular and clinical characterization of Y chromosome microdeletions in infertile men: a 10-year experience in Italy","volume":"92","author":"Ferlin","year":"2007","journal-title":"J Clin Endocrinol Metab"},{"key":"2024030111171810100_dead277-B8","doi-asserted-by":"crossref","first-page":"1085","DOI":"10.1007\/s40618-022-01741-6","article-title":"Management of male factor infertility: position statement from the Italian Society of Andrology and Sexual Medicine (SIAMS)","volume":"45","author":"Ferlin","year":"2022","journal-title":"J Endocrinol Invest"},{"key":"2024030111171810100_dead277-B9","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1080\/14737159.2019.1633917","article-title":"Contemporary genetics-based diagnostics of male 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