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Puberte gecikmesi olan 14 yaşındaki bir kız hastada izokromozom Xq karyotipi

Isochromosome Xq In A Girl Having Delayed Puberty

Journal Name:

  • İnönü Üniversitesi Tıp Fakültesi Dergisi

Publication Year:

  • 1997

Key Words:

Keywords (Original Language):

Author NameUniversity of AuthorFaculty of Author
Abstract (2. Language): 
We determined isochromosome Xq karyotype in a 14-year-old female patient having delayed puberty. The diagnosis of infertile Turner's syndrome was made later, based on the presence of the primary amenorrhea and additional features such as growth retardation (her height and weight were 132 cm and 45 kg, respectively) and unusual hormonal profile. She had high plasma gonadotropin and low ovarian hormone levels (LH: 42 mlU/mL, FSH: 14 mlU/mL, estradiol: 27 pg/mL, and progesterone: 0.6 ng/mL). Karyotypes in the peripheral blood cells were pure isochromosome Xq constitution; 46,X,i(Xq). Ultrasonography showed that uterus dimensions were 3x2x2 cm and ovaries were streak. The patient did not show other classical Turner's syndrome traits such as broad chest, neck webbing, low posterior hairline, renal and cardiovascular anomalies. [Journal of Turgut Özal Medical Center 1997;4(1):109-111]
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Abstract (Original Language): 
Pnberte gecikmesi şikayeti bulunan 14 yaşındaki bir kız hastada izokromozom Xq karyotipi saptandı. Daha sonra, primer amenore yanında gelişme geriliği (boy: 132 cm, ağırlık: 45 kg) ve anormal hormonal bulguları da göz önüne alınarak hastaya izokromozom X' e bağlı Turner sendromu tanısı konuldu. Hastada plazma gonadotropinleri yüksek iken ovary an hormon düzeyleri düşüktü (LH: 42 mlU/mL, FSH: 14 mlU/mL, östradiol: 27 pg/mL ve progesteron: 0.6 ng/mL). Periferik lenfositlerden elde edilen tüm metafazlarda 46,X, i(Xq) karyotipi tespit edildi. Ultrasonografı sonucu uterus boyutlarının 3x2x2 cm olduğu anlaşıldı. Hastada, geniş göğüs kafesi, yele boyun, düşük posterior saç bitim çizgisi, renal ve kardiyovasküler anomaliler gibi Turner sendromuna ait diğer klasik bulgular gözlenemedi. [Turgut Özal Tıp Merkezi Dergisi 1997;4(1):109-111]
FULL TEXT (PDF): 
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  • 1
109-111
  • Turkish

REFERENCES

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