Nadir görülen bir erkek infertilitesi olgusu: De la chapelle sendromu

Year 2015, Volume: 10 Issue: 3, 40 - 42, 01.08.2015

Salih Budak Yusuf Özlem İlbey Mehmet Zeynel Keskin

Abstract

46,XX testiküler bozukluk, nadir görülen bir durumdur. İlk kez de la Chapelle ve ark. tarafından 1964 yılında raporlanmıştır ve ‘’de la Chapelle sendromu’’ olarak ta bilinir. Genellikle bu hastaların ilk başvuru şikayeti infertilitedir. Bu olguda, evlilik sonrası infertilite nedeniyle polikliniğimize başvuran, SRY+, 46XX testiküler bozukluk vakası sunulmuştur

Keywords

Azoospermi , De la chapelle sendromu

Nadir görülen bir erkek infertilitesi olgusu: De la chapelle sendromu

Abstract

46, XX testicular disorder is a rare condition. The first time it was reported by de la Chapelle et. al in 1964 and also known as ‘’de la Chapelle syndrome’’. Generally, these patients’ first complaint is infertility. In this article, we presented a case of SRY+,46XX testicular disorder that applied to our outpatient clinic because of infertility complaint after marriage.

Keywords

Azoospermia , De la chapelle syndrome

References

• de la Chapelle A, Hortling H, Niemi M, Wennström J. XX chromosomes in a human male. First case.; Acta Med Scand 1964;175:25-38.
• Ergun-Longmire B, Vinci G, Alonso L, et al. Clinical, hormonal and cytogenetic evaluation of 46,XX males and review of the literature. J Pediatr Endocrinol Metab 2005;18:739-48.
• Boucekkine C, Toublanc JE, Abbas N, et al. Clinical and anatomical spectrum in XX sex reversed patients. Relati- onship to the presence of Y specific DNA-sequences. Clin Endocrinol 1994;40:733–42.
• Lee GM, Ko JM, Shin CH, Yang SW. A Korean boy with 46,XX testicular disorder of sex development caused by SOX9 duplication. Ann Pediatr Endocrinol Metab 2014;19:108–12.
• Anık A, Çatlı G, Abacı A, Böber E. 46, XX Male Disorder of Sexual Development: A Case Report. J clin res pediatr endocrinol 2013;5:258–60.
• Jain M, Chaudhary I, Halder A. The Sertoli Cell Only Syndrome and Glaucoma in a Sex–Determining Region Y Positive XX Infertile Male. J Clin Diagn Res 2013;7:1457–9.
• Vorona E, Zitzmann M, Gromoll J, Schüring AN, Niesc- hlag E. Clinical, endocrinological, and epigenetic features of the 46, XX male syndrome, compared with 47, XXY Kli- nefelter patients. JCEM 2007;92:3458–65.
• Vilain EJ. 46,XX Testicular Disorder of Sex Deve lopment. GeneReviews, Last Update 2009.
• Schoenwolf GC, Bleyl SB, Brauer PR, Francis-West PH. Larsen’s Human Embryology; Fourth Edition Churchill Livingstone. 2008. p.479-536.
• Zhao L, Koopman P: SRY protein function in sex deter- mination: thinking outside the box. Chromosom Res 2012;20:153–62.
• Zenteno Ruiz JC, Kofman Alfaro S, Méndez JP. 46,XX sex reversal. Arch Med Res 2001;32:559-66.
• Cox JJ, Willatt L, Homfray T, Woods CG. A SOX9 duplica- tion and familial 46,XX developmental testicular disorder. N Engl J Med 2011;364:91-93.
• Lee GM, Ko JM, Shin CH, Yang SW: A Korean boy with 46,XX testicular disorder of sex development caused by SOX9 duplication. Ann Pediatr Endocrinol Metab 2014;19:108-12.
• Velasco G, Savarese V, Sandorfi N, Jimenez SA, Jabbour S: 46, XX SRY-positive male syndrome presenting with pri- mary hypogonadism in the setting of scleroderma. Endocr Pract 2011;17:95–98.
• Simoni M, Bakker E, Krausz C. 2004 ‘’EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions. State of the art 2004’’. Int J Androl 2004;27:240–49.
• Ishii M, Tachiwana T, Hoshino A, et al. Potency of testicular somatic environment to support spermatogenesis in XX/ Sry transgenic male mice. Development 2007;134:449–54.