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Premature ovarian failure due to tetrasomy X in an adolescent girl

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Abstract

Tetrasomy X associated with premature ovarian failure has been described in a few patients, and the parental origin of the extra X chromosomes has not been investigated so far in this group. A 15-year-old girl with mental retardation and minor physical anomalies showed secondary amenorrhea, high gonadotropin levels, and osteoporosis. Molecular analysis of the fibroblast cells revealed pure 48,XXXX constitution despite 48,XXXX/47,XXX mosaicism in peripheral blood. Analysis of the polymorphic markers (X22, DXYS218, DXYS267, HPRT) on the X chromosome by the quantitative fluorescent polymerase chain reaction (QF-PCR) method demonstrated that the extra X chromosomes were maternal in origin. Conclusion: Patients with tetrasomy X syndrome should be screened for ovarian insufficiency during early adolescence because hormone replacement therapy may be required for prevention of osteoporosis. In order to understand a potential impact of the parental origin of the extra X chromosomes on ovarian development and function, further studies are needed.

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Abbreviations

FISH:

Fluorescent in situ hybridization

POF:

Premature ovarian failure

QF-PCR:

Quantitative fluorescent polymerase chain reaction

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The authors have no conflicts of interest to disclose.

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Authors and Affiliations

  1. Division of Pediatric Endocrinology, Department of Pediatrics, Ondokuz Mayis University, Kurupelit, Samsun, 55139, Turkey

    Cengiz Kara & Ala Üstyol

  2. Department of Genetics, Ondokuz Mayis University, Samsun, Turkey

    Ayşegül Yılmaz, Engin Altundağ & Gönül Oğur

Authors
  1. Cengiz Kara
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  2. Ala Üstyol
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  3. Ayşegül Yılmaz
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  4. Engin Altundağ
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  5. Gönül Oğur
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Correspondence to Cengiz Kara.

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Kara, C., Üstyol, A., Yılmaz, A. et al. Premature ovarian failure due to tetrasomy X in an adolescent girl. Eur J Pediatr 173, 1627–1630 (2014). https://doi.org/10.1007/s00431-013-2209-y

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  • DOI: https://doi.org/10.1007/s00431-013-2209-y

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