Back to Journals » Pathology and Laboratory Medicine International » Volume 7

Mixed gonadal dysgenesis associated with persistent Müllerian duct syndrome – a rare anomaly

Authors Baig MA

Received 15 June 2015

Accepted for publication 7 August 2015

Published 16 October 2015 Volume 2015:7 Pages 95—98

DOI https://doi.org/10.2147/PLMI.S90512

Checked for plagiarism Yes

Review by Single-blind

Peer reviewers approved by Dr Xuehui Li

Peer reviewer comments 2

Editor who approved publication: Dr Paul Zhang

Video abstract presented by Baig

Views: 846

Mirza Asif Baig

Shri BM Patil Medical College Hospital and Research Centre, Bijapur Liberal District Education (BLDE) University, Bijapur, Karnataka, India

Background: Persistent Müllerian duct syndrome (PMDS) is a rare autosomal recessive inherited disorder. It is a type of internal male pseudo-hermaphroditism in which Müllerian duct derivatives persist in the phenotypically and karyotypically normal male. The exact incidence is unknown, but to date, approximately 400 cases have been reported. PMDS is caused either by insufficient amount of Müllerian inhibiting factor or insensitivity of the target organs to Müllerian inhibiting factor. The case presented in this report discusses mixed gonadal dysgenesis, a condition that refers to individuals who usually have a differentiated gonad on one side and a streak gonad or testis on the other side.
Case summary: A 27-year-old male patient presented with cryptorchidism and a left inguinal hernia. On exploratory laparotomy, a uterus with bilateral adnexa was noted, and histopathology revealed the features of mixed gonadal dysgenesis associated with PMDS. The closest differential diagnosis for this condition is true hermaphroditism.
Conclusion: PMDS is a rare disorder, and is important to diagnose this condition early because 30% of the cases progress to gonadoblastomas like dysgerminoma, yolk sac tumor, and embryonal carcinoma, and hence gonadectomy is necessary. The very rare nature of this condition and grave prognosis merits its reporting.

Keywords: persistent Müllerian ducts, pseudohermaphroditism, true hermaphroditism, gonadoblastomas, MIF, cryptorchidism

Creative Commons License This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution - Non Commercial (unported, v3.0) License. By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms.

Download Article [PDF]  View Full Text [HTML][Machine readable]

 

Readers of this article also read:

BRAF mutation as a biomarker in colorectal cancer

Varghese AM, Saltz LB

Advances in Genomics and Genetics 2015, 5:347-353

Published Date: 15 October 2015

Methacrylic-based nanogels for the pH-sensitive delivery of 5-Fluorouracil in the colon

Ashwanikumar N, Kumar NA, Nair SA, Kumar GS

International Journal of Nanomedicine 2012, 7:5769-5779

Published Date: 15 November 2012

A novel preparation method for silicone oil nanoemulsions and its application for coating hair with silicone

Hu Z, Liao M, Chen Y, Cai Y, Meng L, Liu Y, Lv N, Liu Z, Yuan W

International Journal of Nanomedicine 2012, 7:5719-5724

Published Date: 12 November 2012

Cross-linked acrylic hydrogel for the controlled delivery of hydrophobic drugs in cancer therapy

Deepa G, Thulasidasan AK, Anto RJ, Pillai JJ, Kumar GS

International Journal of Nanomedicine 2012, 7:4077-4088

Published Date: 27 July 2012

Crystallization after intravitreal ganciclovir injection

Pitipol Choopong, Nattaporn Tesavibul, Nattawut Rodanant

Clinical Ophthalmology 2010, 4:709-711

Published Date: 14 July 2010