46, XX SRY-positive male syndrome presenting with primary hypogonadism in the setting of scleroderma.
Publication/Presentation Date
1-1-2011
Abstract
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.
Volume
17
Issue
1
First Page
95
Last Page
98
ISSN
1934-2403
Published In/Presented At
Velasco, G., Savarese, V., Sandorfi, N., Jimenez, S. A., & Jabbour, S. (2011). 46, XX SRY-positive male syndrome presenting with primary hypogonadism in the setting of scleroderma. Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists, 17(1), 95–98. https://doi.org/10.4158/EP10184.CR
Disciplines
Business Administration, Management, and Operations | Health and Medical Administration | Management Sciences and Quantitative Methods
PubMedID
20841307
Department(s)
Administration and Leadership
Document Type
Article