| 46, XX SRY-Positive Male Syndrome Presenting with Primary Hypogonadism in the Setting of Scleroderma. | |
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MedLine Citation:
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PMID: 20841307 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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Objective: To describe a case of SRY gene translocation in a man with scleroderma presenting with primary hypogonadism.Methods: We present the clinical, physical, laboratory, and pathologic findings of the study patient and discuss the cytogenetic analysis and the cause of the sexual dysfunction. Relevant literature is reviewed.Results: A 35-year-old man with a recent diagnosis of diffuse cutaneous sclerosis was referred by his rheumatologist because of a low testosterone level. His medical history was notable for right cryptorchidism corrected after birth. He had no history of sexual activity, but reported normal erectile function before his current presentation. Physical examination findings were remarkable for a height of 157.5 cm; weight of 72.7 kg; extensive, diffuse thickening of the skin; mild gynecomastia; little axillary and pubic hair; and soft testes (1-2 mL bilaterally). Initial laboratory testing revealed the following values: follicle-stimulating hormone, 22.1 mIU/mL (reference range, 1.4-18.1 mIU/mL); luteinizing hormone, 19.7 mIU/mL (reference range, 1.5-9.3 mIU/mL); total testosterone, 25 ng/dL (reference range, 241-827 ng/dL); and free direct testosterone, 0.8 pg/mL (reference range, 8.7-25.1 pg/mL). Laboratory test results were consistent with primary hypogonadism. A urologist performed testicular biopsy, which showed severe testicular atrophy with absent spermatogenesis. Primary hypogonadism due to Klinefelter syndrome or testicular fibrosis secondary to scleroderma was suspected. Karyotype analysis showed a 46, XX karyotype, and fluorescence in situ hybridization was consistent with a 46, XX, Xp22.3(SRY+) gene translocation. After a normal prostate-specific antigen level was documented, testosterone replacement therapy was initiated, and he was referred for genetic counseling.Conclusions: The 46, XX SRY-positive male syndrome is rare. Adult diagnosis can be challenging because of normal sexual development. Scleroderma, which rarely can occur in Klinefelter-type syndromes, further complicated the diagnosis in this case. |
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Authors:
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German Velasco; Vincent Savarese; Nora Sandorfi; Sergio A Jimenez; Serge Jabbour |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists Volume: 17 ISSN: 1934-2403 ISO Abbreviation: Endocr Pract Publication Date: 2011 Jan-Feb |
Date Detail:
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Created Date: 2011-02-10 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9607439 Medline TA: Endocr Pract Country: United States |
Other Details:
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Languages: eng Pagination: 95-8 Citation Subset: IM |
Affiliation:
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Division of Endocrinology, Diabetes, and Metabolic Diseases and Department of Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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