Primary Hypogonadism: 46, XX SRY-Positive Male Syndrome in the Setting of Scleroderma.
Summary of "Primary Hypogonadism: 46, XX SRY-Positive Male Syndrome in the Setting of Scleroderma."
Objective: To describe a case of SRY gene translocation in an adult male with scleroderma presenting with primary hypogonadism and provide further review of the literature. Methods: The clinical history, physical examination, laboratory values, and pathologic findings are provided for a male who presented with hypogonadism. The cause of sexual dysfunction and genetic analysis are provided. Review of the literature is discussed.Results: A 35-year-old male with a recent diagnosis of diffuse cutaneous sclerosis was referred by his rheumatologist because of low testosterone. His past medical history was significant for right cryptorchidism corrected after birth. He had no history of sexual activity but claimed normal erectile function before his current presentation. On his first visit, his physical exam was remarkable for a height of 5' 2", weight 160 lbs, extensive diffuse thickening of the skin, mild gynecomastia, little axillary and pubic hair, and soft testes of 1-2 cc. Initial laboratory testing showed: FSH 22.1 (1.4-18.1 mIU/mL), LH 19.7 (1.5-9.3 mIU/mL), total testosterone 25 (241-827 ng/dL), and a free direct testosterone of 0.8 pg/mL (8.7-25.1 pg/mL); all consistent with primary hypogonadism. He also had seen a urologist who performed a testicular biopsy that showed severe testicular atrophy with absent spermatogenesis. Primary hypogonadism due to Klinefelter's syndrome or testicular fibrosis secondary to scleroderma was suspected. A chromosome analysis showed a 46, XX karyotype, and a fluorescence in situ hybridization (FISH) analysis was consistent with a 46, XX, Xp22.3 (SRY +) gene translocation. After a normal prostate specific antigen, testosterone replacement therapy was initiated and he was referred for genetic counseling.Conclusion: 46, XX SRY-positive male syndrome is a rare disorder. Adult diagnosis can be challenging because of normal sexual development. Further complicating the diagnosis in this case, scleroderma can rarely be found in Klinefelter's type syndromes.
Affiliation
Division of Endocrinology, Diabetes & Metabolic Diseases, Department of Medicine, Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA, 19107, United States.
Journal Details
This article was published in the following journal.
Name: Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrin
ISSN: 1934-2403
Pages: 1-15
Links
- PubMed Source: http://www.ncbi.nlm.nih.gov/pubmed/20841307
- DOI: http://dx.doi.org/10.4158/EP10184.CR
Medical and Biotech [MESH] Definitions
Hypogonadism
Condition resulting from deficient gonadal functions, such as GAMETOGENESIS and the production of GONADAL STEROID HORMONES. It is characterized by delay in GROWTH, germ cell maturation, and development of secondary sex characteristics. Hypogonadism can be due to a deficiency of GONADOTROPINS (hypogonadotropic hypogonadism) or due to primary gonadal failure (hypergonadotropic hypogonadism).
Scleroderma, Limited
The least progressive form of SYSTEMIC SCLERODERMA with skin thickening restricted to the face, neck and areas distal to the elbows and/or knees, sparing the trunk. The CREST SYNDROME is a form of limited scleroderma.
Klinefelter Syndrome
A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.).
Laurence-moon Syndrome
An autosomal recessive condition characterized by hypogonadism; spinocerebellar degeneration; MENTAL RETARDATION; RETINITIS PIGMENTOSA; and OBESITY. This syndrome was previously referred to as Laurence-Moon-Biedl syndrome until BARDET-BIEDL SYNDROME was identified as a distinct entity. (From N Engl J Med. 1989 Oct 12;321(15):1002-9)
Scleroderma, Diffuse
A rapid onset form of SYSTEMIC SCLERODERMA with progressive widespread SKIN thickening over the arms, the legs and the trunk, resulting in stiffness and disability.
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