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


Journal

Urology
ISSN: 1527-9995
Titre abrégé: Urology
Pays: United States
ID NLM: 0366151

Informations de publication

Date de publication:
Jul 2019
Historique:
received: 23 03 2019
revised: 23 03 2019
accepted: 06 04 2019
pubmed: 22 4 2019
medline: 22 1 2020
entrez: 22 4 2019
Statut: ppublish

Résumé

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.

Identifiants

pubmed: 31005658
pii: S0090-4295(19)30348-6
doi: 10.1016/j.urology.2019.04.008
pii:
doi:

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

68-70

Informations de copyright

Copyright © 2019 Elsevier Inc. All rights reserved.

Auteurs

Marina Caputo (M)

Endocrinology, Department of Translational Medicine, Università del Piemonte Orientale, Novara, Italy. Electronic address: marina.caputo@hotmail.com.

Chiara Mele (C)

Endocrinology, Department of Translational Medicine, Università del Piemonte Orientale, Novara, Italy.

Marco Zavattaro (M)

Endocrinology, Department of Translational Medicine, Università del Piemonte Orientale, Novara, Italy.

Maria Teresa Samà (MT)

Endocrinology, Department of Translational Medicine, Università del Piemonte Orientale, Novara, Italy.

Mara Giordano (M)

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.

Paolo Umari (P)

Division of Urology, Maggiore della Carità Hospital, Department of Translational Medicine, Università del Piemonte Orientale, Novara, Italy.

Alessandro Volpe (A)

Division of Urology, Maggiore della Carità Hospital, Department of Translational Medicine, Università del Piemonte Orientale, Novara, Italy.

Gianluca Aimaretti (G)

Endocrinology, Department of Translational Medicine, Università del Piemonte Orientale, Novara, Italy.

Flavia Prodam (F)

Department of Health Sciences, Università del Piemonte Orientale, Novara, Italy.

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Classifications MeSH