Yıl 2010,
Cilt: 23 Sayı: 2, 302 - 307, 27.04.2015
Öz
On altı yaşında kız hasta adet görmeme ve meme gelişiminin olmaması şikayeti nedeniyle başvurdu. Bazal hormonal değerlendirme sonuçları primer ovaryan yetmezlik ile uyumluydu. Ultrasonografik incelemede over ve uterus gözlenmedi. Karyotipi 46 XY olan hastanin SRY gen incelemesinde delesyon tipi mutasyon saptanmadı. Laparoskopik inceleme esnasında saptanan bilateral streak gonadlar olası gonadal tümör riski nedeniyle çıkarıldı. Bu olgu sunumu ile, puberte gecikmesi ile başvuran her adolesan kız hastada, 46 XY pür gonadal disgenezinin ayırıcı tanıda düşünülmesi gerekliliğini ve gonadal tümör gelişim riski nedeniyle erken gonadektominin önemini vurgulamak istedik. Anahtar Kelimeler: Erkek psödohermafroditizm, Gonadal disgenezi, Amenore
Anahtar Kelimeler
Kaynakça
- Adriana A, Gary D. Disorders of sexual
- differentiation. In: Lifshitz F, eds. Pediatric
- Endocrinology. New York: Marcel Decker AG,
- : 319-345.
- Coutin AS, Hamy A, Fondevilla M, Savigny B,
- Paineau J, Visset J. Pure 46, XY gonadal
- dysgenesis. J Gynecol Obstet Biol Reprod (Paris)
- ; 25:792-796.
- Styne D. The testes disorders of sexual
- differentiation and puberty in the male. In: Sperling
- M, ed. Pediatric Endocrinology. Philadelphia:
- Elsevier Science, 2002; 565-628.
- Lee MM. Molecular genetic control of sex
- differentiation. In: Pescovitz OH, Eugster EA, eds.
- Pediatric Endocrinology: Mechanism,
- Manifestations, and Manangment. Philadelphia:
- Lippincott. Williams and Wilkins, 2004; 231-242.
- Uehara S, Funato T, Yaegashi N, et al. SRY
- mutation and tumor formation on the gonads of XY
- pure gonadal dysgenesis patients. Cancer Genet
- Cytogenet 1999; 113:78-84.
- Radakovic B, Jukic S, Bukovic D, Ljubojevic N,
- Cima I. Morphology of gonads in pure XY gonadal
- dysgenesis. Coll Antropol 1999; 23:203-211.
- Brennan J, Capel B. One tissue, two fates:
- molecular genetic events that underlie testis versus
- ovary development. Nat Rev Genet 2004; 5:509-
- -
- -
- Marmara Medical Journal 2010;23(2);302-307
- Ayhan Abacı, et al.
- A rare cause of male pseudohermaphrodıtısm: 46, XY gonadal dysgenesıs (Swyer Syndrome)
- Gao F, Maiti S, Alam N, et al. The Wilms tumor
- gene, Wt1, is required for Sox9 expression and
- maintenance of tubular architecture in the
- developing testis. Proc Natl Acad Sci USA 2006;
- :11987-11992.
- McElreavy K, Vilain E, Abbas N, et al. XY sex
- reversal associated with a deletion 5' to the SRY
- "HMG box" in the testis-determining region. Proc
- Natl Acad Sci USA 1992; 89:11016-11020.
- Takai Y, Tsutsumi O, Harada I, et al. Case of XY
- pure gonadal dysgenesis with 46,XYp-/47,XXYpkaryotype
- whose gonadoblastoma was removed
- laparoscopically. Gynecol Obstet Invest 2000;
- :166-169.
- Kim SK, Sohn IS, Kim JW, et al. Gonadoblastoma
- and dysgerminoma associated with 46, XY pure
- gonadal dysgenesis--a case report. J Korean Med
- Sci 1993; 8:380-384.
Yıl 2010,
Cilt: 23 Sayı: 2, 302 - 307, 27.04.2015
Öz
-
Anahtar Kelimeler
Kaynakça
- Adriana A, Gary D. Disorders of sexual
- differentiation. In: Lifshitz F, eds. Pediatric
- Endocrinology. New York: Marcel Decker AG,
- : 319-345.
- Coutin AS, Hamy A, Fondevilla M, Savigny B,
- Paineau J, Visset J. Pure 46, XY gonadal
- dysgenesis. J Gynecol Obstet Biol Reprod (Paris)
- ; 25:792-796.
- Styne D. The testes disorders of sexual
- differentiation and puberty in the male. In: Sperling
- M, ed. Pediatric Endocrinology. Philadelphia:
- Elsevier Science, 2002; 565-628.
- Lee MM. Molecular genetic control of sex
- differentiation. In: Pescovitz OH, Eugster EA, eds.
- Pediatric Endocrinology: Mechanism,
- Manifestations, and Manangment. Philadelphia:
- Lippincott. Williams and Wilkins, 2004; 231-242.
- Uehara S, Funato T, Yaegashi N, et al. SRY
- mutation and tumor formation on the gonads of XY
- pure gonadal dysgenesis patients. Cancer Genet
- Cytogenet 1999; 113:78-84.
- Radakovic B, Jukic S, Bukovic D, Ljubojevic N,
- Cima I. Morphology of gonads in pure XY gonadal
- dysgenesis. Coll Antropol 1999; 23:203-211.
- Brennan J, Capel B. One tissue, two fates:
- molecular genetic events that underlie testis versus
- ovary development. Nat Rev Genet 2004; 5:509-
- -
- -
- Marmara Medical Journal 2010;23(2);302-307
- Ayhan Abacı, et al.
- A rare cause of male pseudohermaphrodıtısm: 46, XY gonadal dysgenesıs (Swyer Syndrome)
- Gao F, Maiti S, Alam N, et al. The Wilms tumor
- gene, Wt1, is required for Sox9 expression and
- maintenance of tubular architecture in the
- developing testis. Proc Natl Acad Sci USA 2006;
- :11987-11992.
- McElreavy K, Vilain E, Abbas N, et al. XY sex
- reversal associated with a deletion 5' to the SRY
- "HMG box" in the testis-determining region. Proc
- Natl Acad Sci USA 1992; 89:11016-11020.
- Takai Y, Tsutsumi O, Harada I, et al. Case of XY
- pure gonadal dysgenesis with 46,XYp-/47,XXYpkaryotype
- whose gonadoblastoma was removed
- laparoscopically. Gynecol Obstet Invest 2000;
- :166-169.
- Kim SK, Sohn IS, Kim JW, et al. Gonadoblastoma
- and dysgerminoma associated with 46, XY pure
- gonadal dysgenesis--a case report. J Korean Med
- Sci 1993; 8:380-384.
Toplam 50 adet kaynakça vardır.
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Bölüm | Olgu Sunumu |
| Yazarlar | |
| Yayımlanma Tarihi | 27 Nisan 2015 |
| Yayımlandığı Sayı | Yıl 2010 Cilt: 23 Sayı: 2 |