Open Access

Persistent Müllerian duct syndrome: A case report and review

  • Authors:
    • Xiaoya Ren
    • Di Wu
    • Chunxiu Gong
  • View Affiliations

  • Published online on: October 11, 2017     https://doi.org/10.3892/etm.2017.5281
  • Pages:5779-5784
  • Copyright: © Ren et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Persistent Müllerian duct syndrome (PMDS) is a rare type of male pseudohermaphroditism caused by a deficiency in anti‑Müllerian hormone (AMH) or a defect in its type II receptor. The current study reports the clinical data and results of the genetic analysis of a 17‑month‑old male diagnosed with PMDS. The clinical manifestations of the patient included a left transverse testicular ectopia and bilateral cryptorchidism. Pelvic ultrasonography indicated two testes on the same left inguinal ring and left inguinal hernia and uterine tissue located at the left rear of the bladder. Karyotype analysis detected a 46,XY chromosome pattern and tests determined that the level of AMH was increased. Gene sequencing of AMHR‑II indicated a compound heterozygous nucleotide variation and identified two novel mutations. The c.1184 (E9) to c.1185 (E9) CT deletion mutant gene originated from the father of the patient. This mutation causes a frameshift resulting in a truncated protein. The c.1388G>A (E10) mutant site was derived from the patient's mother and caused a change in p.463, R>H, resulting in the alteration of the structure of the protein, which subsequently induced a conformational change in AMHR‑II. The results of the current study may help to further understanding of the PMDS genetic profile.

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December 2017
Volume 14 Issue 6

Print ISSN: 1792-0981
Online ISSN:1792-1015

2016 Impact Factor: 1.261
Ranked #50/128 Medicine Research and Experimental
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APA
Ren, X., Wu, D., & Gong, C. (2017). Persistent Müllerian duct syndrome: A case report and review. Experimental and Therapeutic Medicine, 14, 5779-5784. https://doi.org/10.3892/etm.2017.5281
MLA
Ren, X., Wu, D., Gong, C."Persistent Müllerian duct syndrome: A case report and review". Experimental and Therapeutic Medicine 14.6 (2017): 5779-5784.
Chicago
Ren, X., Wu, D., Gong, C."Persistent Müllerian duct syndrome: A case report and review". Experimental and Therapeutic Medicine 14, no. 6 (2017): 5779-5784. https://doi.org/10.3892/etm.2017.5281