Olgu Sunumu
Yıl 2020,
Cilt: 22 Sayı: 3, 226 - 229, 30.12.2020
Öz
Cinsiyet disforisi, doğumda belirlenen cinsiyet ile cinsiyet kimliği arasındaki uyumsuzluğun neden olduğu bir durumdur. Cinsiyet gelişim bozuklukları, konjenital kromozomal, gonadal veya anatomik olarak cinsiyetle ilişkili fiziksel özelliklerin atipik olduğu durumları içerir. Çoğunlukla karyotip analizi ile yapılan çalışmalarda cinsiyet disforisi olan kişilerde kromozomal anormallik oranının çok düşük olduğu bildirilmektedir. Turner mozaisizminde cinsiyet disforisi yaygın bir bulgu değildir. Bu olgu serisinde, cinsiyet disforisi ile başvuran Turner mozaisizmi olarak tanımlanan üç olgunun fenotip ve genotip özelliklerini inceledik. Hastaların şikayetleri erkek gibi hissetmek, kadın olmakla ilgili olumsuz düşünceler, kadın beden imajından rahatsız olmak, erkek bedene sahip olmak istemek şeklindeydi. 3 olgumuzun hiçbirinde Turner stigmatası yoktu ancak kromozomal veya FISH analizleri, birinde 45,X/46 XX/47,XXX ve ikisinde 45 X/46 XX olarak tespit edildi.
Anahtar Kelimeler
Kaynakça
- American Psychiatric Association (APA). Diagnostic and statistical manual of mental disorders (DSM-5). 5th ed. Washington DC: APA Publishing; 2013.
- Fisher AD, Ristori J, Fanni E, Castellini G, Forti G, Maggi M. Gender identity, gender assignment and reassignment in individuals with disorders of sex development: A major of dilemma. J Endocrinol Invest. 2016;39(11):1207-24.
- Hughes IA, Houk C, Ahmed SF, Lee PA. Consensus statement on management of intersex disorders. Arch Dis Child. 2006;91(7):554-63.
- The World Professional Association for Transgender Health (WPATH). Standards of care for the health of transsexual, tansgender, and gender nonconforming people. 7th ed. WPATH; 2011.
- Auer MK, Fuss J, Stalla GK, Athanasoulia AP. Twenty years of endocrinologic treatment in transsexualism: analyzing the role of chromosomal analysis and hormonal profiling in the diagnostic work-up. Fertil Steril. 2013;100(4):1103-10.
- Hook EB, Warburton D. The distribution of chromosomal genotypes associated with Turner’s syndrome: livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism. Hum Genet 1983;64(1):24-7.
- Gürsoy S, Erçal D. Turner syndrome and its variants. J Pediatr Res. 2017;4(4):171-5.
- Yalçın SS, Çelen Yoldaş T, Ütine GE. Case management guidelines on neurodevelopmental and psychosocial problems of Turner syndrome. Turkish J Pediatr Dis. 2018;12(1):62-7.
- Onur Cura D, Çankaya T, Ülgenalp A. The role of genetic factors in gender dysphoria. Hitit Med J 2020;2(2):49-55.
- Wylie KR, Steward D. A consecutive series of 52 transsexual people presenting for assessment and chromosomal analysis at a gender identity clinic. Int J Transgend. 2008;10(3-4):147-8.
- Vujovic S, Popovic S, Sbutega-Milosevic G, Djordjevic M, Gooren L. Transsexualism in Serbia: a twenty-year follow-up study. J Sex Med. 2009;6(4):1018-23.
- Hengstschläger M, van Trotsenburg M, Repa C, Marton E, Huber JC, Bernaschek G. Sex chromosome aberrations and transsexualism. Fertil Steril. 2003;79(3):639-40.
- Bağcaz A, Boduroğlu OK, Başar K. Chromosome analysis in the assessment for gender affirmation process: a retrospective study. Turk Psikiyatri Derg. 2019;30(3):157-62.
- Pang KC, Feldman D, Oertel R, Telfer M. Molecular karyotyping in children and adolescents with gender dysphoria. Transgend Health. 2018;3(1):147-53.
- Fernández R, Guillamón A, Gómez-Gil E, Esteva I, Almaraz MC, Cortés-Cortés J, et al. Analyses of karyotype by G-banding and high-resolution microarrays in a gender dysphoria population. Genes Genomics. 2018;40(5):465-73.
- Pavlidis K, McCauley E, Sybert VP. Psychosocial and sexual functioning in women with Turner syndrome. Clin Genet. 1995;47(2):85-9.
- Sybert VP. Phenotypic effects of a mosaicism for a 47,XXX cell line in Turner syndrome. J Med Genet. 2002;39(3):217-20.
- Givens JR, Wilroy RS, Summitt RL, Andersen RN, Wiser WL, Fish SA. Features of Turner's syndrome in women with polycystic ovaries. Obstet Gynecol. 1975;45(6):619-24.
- Balen AH, Laven JS, Tan SL, Dewailly D. The ultrasound assessment of the polycystic ovary: international consensus definition. Hum Reprod Update. 2003;9(6):505-14.
- Baba T, Endo T, Honnma H, Kitajima Y, Hayashi T, Ikeda H, et al. Association between polycystic ovary syndrome and female-to-male transsexuality. Hum Reprod. 2007:22(4);1011-6.
- Agrawal R, Sharma S, Bekir J, Conway G, Bailey J, Balen AH, et al. Prevalence of polycystic ovaries and polycystic ovary syndrome in lesbian women compared with heterosexual women. Fertil Steril. 2004;82(5):1352-7.
- Kowalczyk R, Skrzypulec V, Lew-Starowicz Z, Nowosielski K, Grabski B, Merk W. Psychological gender of patients with polycystic ovary syndrome. Acta Obstet Gynecol Scand. 2012;91(6):710-4.
- Santos K, Lemos-Marini S, Baptista M, Bonadia L, Júnior WP, Bertuzzo CP. Frequency of 677C > T and 1298A > C polymorphisms in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene in Turner syndrome individuals. Genet Mol Biol. 2006;29(1):41-4.
A Rare Cause of Female Gender Dysphoria: Report of Three Cases with Low Percentage of Turner Mosaicism
Öz
Gender dysphoria is a condition caused by a mismatch between the gender assigned at birth and gender identity. Gender development disorders include situations where congenital chromosomal, gonadal, or anatomically gender-related physical features are atypical. In the studies conducted mostly by karyotype analysis, it is reported that the rate of chromosomal abnormality is very low in people with gender dysphoria. In Turner mosaicism, gender dysphoria is not a common finding. In this case series, we examined the phenotype and genotype characteristics of the three cases identified as Turner mosaicism, who applied with gender dysphoria. The patients’ complaints were feeling like a male, negative thoughts about being a female, being uncomfortable with feminine body image, wanting to have a male body. None of our 3 cases had Turner stigmata however their chromosomal or FISH analyses showed that one of them was 45,X/46 XX/47,XXX and two of them were 45 X/46 XX karyotype.
Anahtar Kelimeler
Kaynakça
- American Psychiatric Association (APA). Diagnostic and statistical manual of mental disorders (DSM-5). 5th ed. Washington DC: APA Publishing; 2013.
- Fisher AD, Ristori J, Fanni E, Castellini G, Forti G, Maggi M. Gender identity, gender assignment and reassignment in individuals with disorders of sex development: A major of dilemma. J Endocrinol Invest. 2016;39(11):1207-24.
- Hughes IA, Houk C, Ahmed SF, Lee PA. Consensus statement on management of intersex disorders. Arch Dis Child. 2006;91(7):554-63.
- The World Professional Association for Transgender Health (WPATH). Standards of care for the health of transsexual, tansgender, and gender nonconforming people. 7th ed. WPATH; 2011.
- Auer MK, Fuss J, Stalla GK, Athanasoulia AP. Twenty years of endocrinologic treatment in transsexualism: analyzing the role of chromosomal analysis and hormonal profiling in the diagnostic work-up. Fertil Steril. 2013;100(4):1103-10.
- Hook EB, Warburton D. The distribution of chromosomal genotypes associated with Turner’s syndrome: livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism. Hum Genet 1983;64(1):24-7.
- Gürsoy S, Erçal D. Turner syndrome and its variants. J Pediatr Res. 2017;4(4):171-5.
- Yalçın SS, Çelen Yoldaş T, Ütine GE. Case management guidelines on neurodevelopmental and psychosocial problems of Turner syndrome. Turkish J Pediatr Dis. 2018;12(1):62-7.
- Onur Cura D, Çankaya T, Ülgenalp A. The role of genetic factors in gender dysphoria. Hitit Med J 2020;2(2):49-55.
- Wylie KR, Steward D. A consecutive series of 52 transsexual people presenting for assessment and chromosomal analysis at a gender identity clinic. Int J Transgend. 2008;10(3-4):147-8.
- Vujovic S, Popovic S, Sbutega-Milosevic G, Djordjevic M, Gooren L. Transsexualism in Serbia: a twenty-year follow-up study. J Sex Med. 2009;6(4):1018-23.
- Hengstschläger M, van Trotsenburg M, Repa C, Marton E, Huber JC, Bernaschek G. Sex chromosome aberrations and transsexualism. Fertil Steril. 2003;79(3):639-40.
- Bağcaz A, Boduroğlu OK, Başar K. Chromosome analysis in the assessment for gender affirmation process: a retrospective study. Turk Psikiyatri Derg. 2019;30(3):157-62.
- Pang KC, Feldman D, Oertel R, Telfer M. Molecular karyotyping in children and adolescents with gender dysphoria. Transgend Health. 2018;3(1):147-53.
- Fernández R, Guillamón A, Gómez-Gil E, Esteva I, Almaraz MC, Cortés-Cortés J, et al. Analyses of karyotype by G-banding and high-resolution microarrays in a gender dysphoria population. Genes Genomics. 2018;40(5):465-73.
- Pavlidis K, McCauley E, Sybert VP. Psychosocial and sexual functioning in women with Turner syndrome. Clin Genet. 1995;47(2):85-9.
- Sybert VP. Phenotypic effects of a mosaicism for a 47,XXX cell line in Turner syndrome. J Med Genet. 2002;39(3):217-20.
- Givens JR, Wilroy RS, Summitt RL, Andersen RN, Wiser WL, Fish SA. Features of Turner's syndrome in women with polycystic ovaries. Obstet Gynecol. 1975;45(6):619-24.
- Balen AH, Laven JS, Tan SL, Dewailly D. The ultrasound assessment of the polycystic ovary: international consensus definition. Hum Reprod Update. 2003;9(6):505-14.
- Baba T, Endo T, Honnma H, Kitajima Y, Hayashi T, Ikeda H, et al. Association between polycystic ovary syndrome and female-to-male transsexuality. Hum Reprod. 2007:22(4);1011-6.
- Agrawal R, Sharma S, Bekir J, Conway G, Bailey J, Balen AH, et al. Prevalence of polycystic ovaries and polycystic ovary syndrome in lesbian women compared with heterosexual women. Fertil Steril. 2004;82(5):1352-7.
- Kowalczyk R, Skrzypulec V, Lew-Starowicz Z, Nowosielski K, Grabski B, Merk W. Psychological gender of patients with polycystic ovary syndrome. Acta Obstet Gynecol Scand. 2012;91(6):710-4.
- Santos K, Lemos-Marini S, Baptista M, Bonadia L, Júnior WP, Bertuzzo CP. Frequency of 677C > T and 1298A > C polymorphisms in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene in Turner syndrome individuals. Genet Mol Biol. 2006;29(1):41-4.
Toplam 23 adet kaynakça vardır.
Ayrıntılar
| Birincil Dil | İngilizce |
|---|---|
| Konular | Klinik Tıp Bilimleri |
| Bölüm | Olgu Sunumu |
| Yazarlar | |
| Yayımlanma Tarihi | 30 Aralık 2020 |
| Gönderilme Tarihi | 15 Ağustos 2020 |
| Yayımlandığı Sayı | Yıl 2020 Cilt: 22 Sayı: 3 |
Kaynak Göster
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