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

• Published in: Güncel pediatri 2014-04, Vol.12 (1), p.43
• Main Authors: Altincik, Ayca, Catli, Gonul, Demir, Korean, Abaci, Ayhan, Bora, Elcin, Ercal, Derya, Bober, Ece
• Format: Article
• Language: Turkish
• Subjects: Case studies; Diagnosis; Karyotypes; Pediatric research; Turner syndrome
• ISSN: 1304-9054
• DOI: 10.4274/jcp.02996

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