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A Rare Karyotype of Turner Syndrome: 45.X/47.XXX/Nadir Gorulen Bir Turner Sendromu Karyotipi: 45,X/47,XXX

Güncel pediatri, 2014-04, Vol.12 (1), p.43 [Peer Reviewed Journal]

COPYRIGHT 2014 Galenos Yayinevi Tic. Ltd. ;ISSN: 1304-9054 ;DOI: 10.4274/jcp.02996

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  • Title:
    A Rare Karyotype of Turner Syndrome: 45.X/47.XXX/Nadir Gorulen Bir Turner Sendromu Karyotipi: 45,X/47,XXX
  • Author: Altincik, Ayca ; Catli, Gonul ; Demir, Korean ; Abaci, Ayhan ; Bora, Elcin ; Ercal, Derya ; Bober, Ece
  • Subjects: Case studies ; Diagnosis ; Karyotypes ; Pediatric research ; Turner syndrome
  • Is Part Of: Güncel pediatri, 2014-04, Vol.12 (1), p.43
  • Description: Turner syndrome (TS) is a chromosomal disorder, which mostly results from a 45.XO karyotype and is characterized with short stature, gonadal dysgenesis, renal and cardiac abnormalities. The probability of spontaneous menarche in TS is 10%, while the probability of fertility is too low. The frequency of 45.X/47,XXX mosaicism in TS has been reported as 1% -4%. Cases with this karyotype were reported to have higher rates of spontaneous menarche and fertility with a lower incidence of short stature and renal abnormalities. A thirteen year-old girl was admitted to our clinic with the complaints of decreased height velocity for the last two years and short stature compared to peers. On physical examination, her height was 135 cm (SD score -3.3) and weight was 32 kg (SD score -2.3) with breast development and pubic hair consistent with Tanner stage III. She also had an increased carrying angle of the elbow and low nuchal hairline. Remaining systemic physical examination was normal. Laboratory evaluation revealed normal complete blood count, renal, hepatic, and thyroid function test results. Bone age was consistent with 11 years. FSH was 5.99 mIU/mL, LH 2.94 mIU/mL, and E2 <20 pg/mL. The result of karyotype analysis was reported to be 45.X/47.XXX. She had no renal abnormality and echocardiogram revealed no pathological finding except minimal mitral valve regurgitation. WISC-R intelligence test was performed due to poor school skills and her IQ score was reported as 68. Recombinant human growth hormone treatment was started and at follow up, she had spontaneous menarche at the age of 13.5 years. With this report, it was aimed to emphasize i) the clinical features of this rare 45.X/47.XXX mosaicism and ii) the necessity of considering mosaic Turner syndrome in differential diagnosis and determining karyotype in all girls with short stature despite normal pubertal development. Key words Turner syndrome, short stature, 45.X/47.XXX Turner sendromu (TS) boy kisaligi, gonadal disgenezi, renal ve kardiyak anomaliler ile karakterize ve siklikla 45,XO karyotipinin bir sonucu olarak gelisen kromozomal bir bozukluktur. TS'nede spontan menars olasiligi %10 iken, fertilite olasiliklari ise cok daha dusuktur. 45,X/47,XXX mozaisizmi TS'li olgularin %1-%4'unu olusturmaktadir. Bu karyotipe sahip bireylerde spontan menars ve fertilite olasiligi daha yuksek olup, boy kisaligi ve renal anomali sikligi ise diger tiplerden daha nadirdir. On uc yasinda kiz olgu iki yildir uzamada yavaslama ve yasitlarindan kisa olmasi nedeniyle poliklinige basvurdu. Fizik muayenesinde boyu 135 cm (-3,3 SDS), agirligi 32 kg (-2,3 SDS), Tanner evrelemesine gore meme gelisimi ve pubik killanmasi evre 3, dirsekte genis tasima acisi ve dusuk ense sac cizgisi mevcuttu. Diger sistem muayneleri normaldi. Tetkiklerinde tam kan sayimi, karaciger ve bobrek fonksiyon testleri, tiroit fonksiyon testleri normaldi. Kemik yasi 11 yas ile uyumlu bulundu. FSH 5,99 mIU/mL, LH 2,94 mIU/mL ve E2 <20 pg/mL olarak saptandi. Karyotip analizi 45,X/47,XXX olarak raporlandi. Renal anomalisi olmayan olgunun ekokardiyografisinde minimal mitral yetmezlik disinda patolojik bulgu saptanmadi. Ders basarisi dusuk olan olgunun yapilan WISC -R testinde IQ puani 68 olarak saptandi. Rekombinan insan buyume hormonu (RhGH) tedavisi baslanan olgunun 13 yas 6 aylik iken spontan menarsi oldu. Bu olgu sunumu ile (i) TS'nede nadir gorulen bu mozaisizmin (45,X/47,XXX) klinik ozelliklerini, (ii) pubertal bulgulari normal olsa dahi boy kisaligi ile basvuran tum kiz olgularda karyotip analizinin yapilarak mozaik Turner sendromunun ayirici tanida dusunulmesi gerekliligi vurgulanmak istenmistir. Anahtar kelimeler Turner sendromu, boy kisaligi, 45,X/47,XXX
  • Publisher: Galenos Yayinevi Tic. Ltd
  • Language: Turkish
  • Identifier: ISSN: 1304-9054
    DOI: 10.4274/jcp.02996
  • Source: AUTh Library subscriptions: ProQuest Central
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