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      Discordant Growth Pattern and Ovarian Function in Monozygotic Twins with 45,X/46,XX Mosaicism

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          Background: We report on phenotypically discordant female monozygotic twins with 45X/46,XX mosaicism in both lymphocytes and fibroblasts. Results: At 11.5 years, twin A was prepubertal, her height was 126.8 cm (–3.15 SD), bone age (BA) 9.7 years (TW2), FSH 47 IU/l and IGF-I 280 ng/ml (–0.89 SD), but twin B was pubertal (P2, B3), her height was 143.4 cm (–0.92 SD), BA 13.6 years (TW2), FSH 3.4 IU/l and IGF-I 380 ng/ml (–0.21 SD). One year later, twin A had grown 11.1 cm due to growth hormone therapy and had IGF-I 1,400 ng/ml (+5.91 SD), whereas the growth velocity of twin B (no therapy) was 5.9 cm, IGF-I 540 ng/ml (+0.57 SD) and she started regular menstruation at 12.1 years. Conclusion: To our knowledge, this is the first report on monozygotic twins with Turner mosaicism in both lymphocytes and fibroblasts who developed a discordant phenotype probably due to an unequal distribution of the two cell lines in distinct tissues.

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          Author and article information

          Horm Res Paediatr
          Hormone Research in Paediatrics
          S. Karger AG
          15 August 2001
          : 55
          : 2
          : 102-105
          aDepartment of Pediatrics, 3rd School of Medicine, Charles University, Prague, Czech Republic; bClinical Genetics, Landeskrankenanstalten Salzburg and cInstitute of Legal Medicine, Salzburg, Austria
          49978 Horm Res 2001;55:102–105
          © 2001 S. Karger AG, Basel

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          Page count
          Figures: 2, Tables: 2, References: 17, Pages: 4
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