Abstract
46 XX male
sexual disorder is a very rare disease. SRY (sex-determining region Y) located
in the Y chromosome is a main sex-specific gen location. It is thought that the
translocation of Y chromosome part containing this gene region to the X
chromosome is responsible for the disorder. A 35 year-old male patient was
admitted to the outpatient clinic with complaints of infertility and decreased
sexual desire. Physical examination revealed wrinkles on the face, lack of
hair, short stature as well as small testicles. Hypergonadotropic hypogonadism
and azoospermia were detected in the patient. The patient's karyotype analysis
was reported as 46 XX. SRY gene analysis was positive. These patients do not
have spermatogenesis, thus sperm can not be obtained with testis biopsy. The
main treatment of the disease is testosterone replacement therapy. In the
differential diagnosis of patients with primary hypogonadism presenting with
infertility, this rare disease should be considered.
Keywords
References
- 1. De la Chapelle A, Hortling H, Niemi M, Wennström J. XX chromosomes in a human male. First case. Acta Med Scand. 1964; 175 (Suppl 412): 25-38.
- 2. De la Chapelle A. The etiology of maleness in XX men. Hum Genet. 1981; 58: 105-16.
- 3. Boucekkine C, Toublanc JE, Abbas N, et al. Clinical and anatomical spectrum in XX sex reversed patients. Relationship to the presence of Y specific DNA-sequences. Clin Endocrinol.1994; 40: 733-42
- 4. Lopez M, Torres L, Mendez JP, et al. Clinical traits and molecular findings in 46 XX males. Clin Genet. 1995; 48: 29-34.
- 5. Vorona E, Zitzmann M, Gromoll J, Schüring AN, Nieschlag E. Clinical, endocrinological, and epigenetic features of the 46 XX male syndrome, compared with 47 XXY Klinefelter patients. J Clin Endocrinol Metab. 2007; 92: 3458-65.
Abstract
46 XX erkek
cinsel gelişim bozukluğu çok nadir görülen bir hastalıktır. Y kromozomuna
yerleşmiş olan SRY (sex-determining region Y) geni cinsiyet belirleyen gendir.
Bu gen bölgesini içeren Y kromozomunun bir parçasının X kromozomuna transloke
olmasıyla hastalığın geliştiği düşünülmektedir. Otuz beş yaşında erkek hasta
infertilite, cinsel istekte azalma şikayetleriyle polikliniğimize başvurdu.
Fizik muayenesinde yüzde kırışıklıklar, kıllanma azlığı, kısa boy, küçük
testisler mevcuttu. Hastada hipergonadotropik hipogonadizm ve azospermi
saptandı. Hastanın karyotip analizi 46 XX olarak rapor edildi. SRY gen analizi
pozitif bulundu. Bu hastalarda spermatogenez olmadığından testis biyopsisi ile
sperm elde edilemez. Hastalığın başlıca tedavisi testosteron yerine koyma
tedavisidir. İnfertilite ile başvuran primer hipogonadizmli hastaların ayırıcı
tanısında bu nadir hastalık dikkate
alınmalıdır.
References
- 1. De la Chapelle A, Hortling H, Niemi M, Wennström J. XX chromosomes in a human male. First case. Acta Med Scand. 1964; 175 (Suppl 412): 25-38.
- 2. De la Chapelle A. The etiology of maleness in XX men. Hum Genet. 1981; 58: 105-16.
- 3. Boucekkine C, Toublanc JE, Abbas N, et al. Clinical and anatomical spectrum in XX sex reversed patients. Relationship to the presence of Y specific DNA-sequences. Clin Endocrinol.1994; 40: 733-42
- 4. Lopez M, Torres L, Mendez JP, et al. Clinical traits and molecular findings in 46 XX males. Clin Genet. 1995; 48: 29-34.
- 5. Vorona E, Zitzmann M, Gromoll J, Schüring AN, Nieschlag E. Clinical, endocrinological, and epigenetic features of the 46 XX male syndrome, compared with 47 XXY Klinefelter patients. J Clin Endocrinol Metab. 2007; 92: 3458-65.
Details
| Subjects | Health Care Administration |
|---|---|
| Journal Section | Case Reports |
| Authors | |
| Publication Date | December 18, 2017 |
| Submission Date | December 30, 2016 |
| Published in Issue | Year 2017 |
Cite
Bu Dergi, Kırıkkale Üniversitesi Tıp Fakültesi Yayınıdır.