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Article

A unique case of female pseudohermaphroditism with 21-hydroxylase deficiency and small supernumerary marker chromosome 7

  • Authors:
    • Walid Al-Achkar
    • Abdulsamad Wafa
    • Manar Assaad
    • Christian Ehlers
    • Thomas Liehr
  • View Affiliations / Copyright

    Affiliations: Department of Molecular Biology and Biotechnology, Division of Human Genetics, Atomic Energy Commission of Syria, Damascus, Syria, Mitteldeutscher Praxisverbund Humangenetik, Dresden, Germany, Jena University Hospital, Institute of Human Genetics, Jena, Germany
  • Pages: 1545-1548
    |
    Published online on: February 28, 2013
       https://doi.org/10.3892/mmr.2013.1349
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Abstract

Small supernumerary marker chromosomes (sSMCs) are present in ~2.6x106 individuals worldwide. Concerning their clinical consequences as well as their chromosomal origin and shape, sSMCs are a heterogeneous group of derivative chromosomes; 70% of sSMC carriers are clinically normal. In the present study, we report on a female with mosaicism (45%) of a de novo sSMC derived from chromosome 7, in which the observed clinical signs do not correspond to comparable cases in the literature. She is clinically normal apart from problems in gender determination, a uterus without ovaries and an external penis, pointing overall towards an adrenogenital syndrome (AGS). 21-Hydroxylase deficiency (21-OHD) is the most common cause of AGS. A corresponding analysis for underlying mutations in the CYP21A2 gene revealed a homozygous mutation c.518T>A (p.Ile173Asn) inherited from both non-related parents. Overall, in this study, we report a unique case of female pseudohermaphroditism, classified as a simple virilization form of 21-OHD having an additional minute-shaped chromosome 7 [min(7)(:p11.1->q11.23:)]. Notably, AGS was due to a mutation in the CYP21A2 gene located on chromosome 6. This is a further example that detection of an sSMC does not always resolve the clinical case.
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Copy and paste a formatted citation
Spandidos Publications style
Al-Achkar W, Wafa A, Assaad M, Ehlers C and Liehr T: A unique case of female pseudohermaphroditism with 21-hydroxylase deficiency and small supernumerary marker chromosome 7. Mol Med Rep 7: 1545-1548, 2013.
APA
Al-Achkar, W., Wafa, A., Assaad, M., Ehlers, C., & Liehr, T. (2013). A unique case of female pseudohermaphroditism with 21-hydroxylase deficiency and small supernumerary marker chromosome 7. Molecular Medicine Reports, 7, 1545-1548. https://doi.org/10.3892/mmr.2013.1349
MLA
Al-Achkar, W., Wafa, A., Assaad, M., Ehlers, C., Liehr, T."A unique case of female pseudohermaphroditism with 21-hydroxylase deficiency and small supernumerary marker chromosome 7". Molecular Medicine Reports 7.5 (2013): 1545-1548.
Chicago
Al-Achkar, W., Wafa, A., Assaad, M., Ehlers, C., Liehr, T."A unique case of female pseudohermaphroditism with 21-hydroxylase deficiency and small supernumerary marker chromosome 7". Molecular Medicine Reports 7, no. 5 (2013): 1545-1548. https://doi.org/10.3892/mmr.2013.1349
Copy and paste a formatted citation
x
Spandidos Publications style
Al-Achkar W, Wafa A, Assaad M, Ehlers C and Liehr T: A unique case of female pseudohermaphroditism with 21-hydroxylase deficiency and small supernumerary marker chromosome 7. Mol Med Rep 7: 1545-1548, 2013.
APA
Al-Achkar, W., Wafa, A., Assaad, M., Ehlers, C., & Liehr, T. (2013). A unique case of female pseudohermaphroditism with 21-hydroxylase deficiency and small supernumerary marker chromosome 7. Molecular Medicine Reports, 7, 1545-1548. https://doi.org/10.3892/mmr.2013.1349
MLA
Al-Achkar, W., Wafa, A., Assaad, M., Ehlers, C., Liehr, T."A unique case of female pseudohermaphroditism with 21-hydroxylase deficiency and small supernumerary marker chromosome 7". Molecular Medicine Reports 7.5 (2013): 1545-1548.
Chicago
Al-Achkar, W., Wafa, A., Assaad, M., Ehlers, C., Liehr, T."A unique case of female pseudohermaphroditism with 21-hydroxylase deficiency and small supernumerary marker chromosome 7". Molecular Medicine Reports 7, no. 5 (2013): 1545-1548. https://doi.org/10.3892/mmr.2013.1349
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