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

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

doi:10.1016/j.urology.2019.04.008

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

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

Risultato della ricerca: Contributo su rivista › Articolo in rivista › peer review

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.

Lingua originale	Inglese
pagine (da-a)	68-70
Numero di pagine	3
Rivista	Urology
Volume	129
DOI	https://doi.org/10.1016/j.urology.2019.04.008
Stato di pubblicazione	Pubblicato - lug 2019

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10.1016/j.urology.2019.04.008

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

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.",

author = "Marina Caputo and Chiara Mele and Marco Zavattaro and Sam{\`a}, \{Maria Teresa\} and Mara Giordano and Paolo Umari and Alessandro Volpe and Gianluca Aimaretti and Flavia Prodam",

note = "Publisher Copyright: {\textcopyright} 2019 Elsevier Inc.",

year = "2019",

month = jul,

doi = "10.1016/j.urology.2019.04.008",

language = "English",

volume = "129",

pages = "68--70",

journal = "Urology",

issn = "0090-4295",

publisher = "Elsevier Inc.",

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TY - JOUR

T1 - Ovotesticular Disorder of Sex Development

T2 - A Rare Case of Lateral Subtype 45X/46XY kariotype Diagnosed in Adulthood

AU - Caputo, Marina

AU - Mele, Chiara

AU - Zavattaro, Marco

AU - Samà, Maria Teresa

AU - Giordano, Mara

AU - Umari, Paolo

AU - Volpe, Alessandro

AU - Aimaretti, Gianluca

AU - Prodam, Flavia

PY - 2019/7

Y1 - 2019/7

N2 - 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.

AB - 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.

UR - https://www.scopus.com/pages/publications/85065519994

U2 - 10.1016/j.urology.2019.04.008

DO - 10.1016/j.urology.2019.04.008

M3 - Article

SN - 0090-4295

VL - 129

SP - 68

EP - 70

JO - Urology

JF - Urology

ER -

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

Abstract

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