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Urology. 2019 Jul;129:68-70. doi: 10.1016/j.urology.2019.04.008. Epub 2019 Apr 18.

Ovotesticular Disorder of Sex Development: A Rare Case of Lateral Subtype 45X/46XY kariotype Diagnosed in Adulthood.

Urology

Marina Caputo, Chiara Mele, Marco Zavattaro, Maria Teresa Samà, Mara Giordano, Paolo Umari, Alessandro Volpe, Gianluca Aimaretti, Flavia Prodam

Affiliations

  1. Endocrinology, Department of Translational Medicine, Università del Piemonte Orientale, Novara, Italy. Electronic address: [email protected].
  2. Endocrinology, Department of Translational Medicine, Università del Piemonte Orientale, Novara, Italy.
  3. Laboratory of Human Genetics, Department of Health Sciences, Università del Piemonte Orientale, Novara, Italy; Interdisciplinary Research Center of Autoimmune Diseases, Università del Piemonte Orientale, Novara, Italy.
  4. Division of Urology, Maggiore della Carità Hospital, Department of Translational Medicine, Università del Piemonte Orientale, Novara, Italy.
  5. Department of Health Sciences, Università del Piemonte Orientale, Novara, Italy.

PMID: 31005658 DOI: 10.1016/j.urology.2019.04.008

Abstract

A 53-year-old male referred to our centre because of hypergonadotropic hypogonadism detected during urological follow-up for urethral lithiasis. Physical examination showed short stature, micropenis, ambiguous external genitalia, and normal secondary sexual characteristics. Karyotype: 45 × 0/46XY. Abdominal MRI revealed the presence of uterus-like structure, right annex, and left testes without prostate. He underwent laparoscopic removal of dysgenetic tissues; histologic examination confirmed the presence of little uterus, fallopian tubes, little atrophic ovary, and vaginal tract; left testes was atrophic with sclero-jalinosis of seminal tubes and Leydig's cells hyperplasia. Testosterone replacement therapy was started after surgery and prostate became MRI visible after 2 years.

Copyright © 2019 Elsevier Inc. All rights reserved.

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