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

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. A...

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Bibliographic Details
Published in:Urology (Ridgewood, N.J.) N.J.), 2019-07, Vol.129, p.68-70
Main Authors: Caputo, Marina, Mele, Chiara, Zavattaro, Marco, Samà, Maria Teresa, Giordano, Mara, Umari, Paolo, Volpe, Alessandro, Aimaretti, Gianluca, Prodam, Flavia
Format: Article
Language:English
Subjects:
Humans
Karyotype
Male
Middle Aged
Ovotesticular Disorders of Sex Development - classification
Ovotesticular Disorders of Sex Development - diagnosis
Ovotesticular Disorders of Sex Development - genetics
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Summary: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.
ISSN:0090-4295
1527-9995
DOI:10.1016/j.urology.2019.04.008