Urological management in a pediatric patient with mixed gonadal dysgenesis

Wendy Matilde Chipa Beizaga; Luis José Orbegoso Celis; Brandom Juced Torres Marigorda; Miguel Martín Aguilar Ulloque; Kilder Nicolay García Murga; Valeria Linares Vega; Fernando Jeancarlos Imán Izquierdo; Ronald Aquino-Ortega; Juana del Valle-Mendoza; Wilmer Gianfranco Silva-Caso

doi:10.1016/j.eucr.2025.103311

Urological management in a pediatric patient with mixed gonadal dysgenesis

Wendy Matilde Chipa Beizaga
, Luis José Orbegoso Celis
, Brandom Juced Torres Marigorda
, Miguel Martín Aguilar Ulloque
, Kilder Nicolay García Murga
, Valeria Linares Vega
, Fernando Jeancarlos Imán Izquierdo
, Ronald Aquino-Ortega
, Juana del Valle-Mendoza
, Wilmer Gianfranco Silva-Caso

Hospital Nacional Edgardo Rebagliati Martins (HNERM)
Hospital Nacional Dos de Mayo
Seguro Social de Salud del Perú

Research output: Contribution to journal › Article › peer-review

Abstract

Disorders of sex development are conditions characterized by alterations in gonadal development that lead to discordance between chromosomal sex, gonadal sex, and phenotypic sex. We report the case of a 4 years old patient with ambiguous genitalia and 45,X/46,XY karyotype. A rudimentary uterus was visualized, and bilateral inguinal exploration was performed, during which the residual right spermatic cord was ligated and orchiectomy of the left testis located in the inguinal canal was carried out. This case highlights the relevance of clinical findings identified during physical examination and emphasizes the importance of multidisciplinary management due to the risk of gonadal malignancy.

Original language	English
Article number	103311
Journal	Urology Case Reports
Volume	64
DOIs	https://doi.org/10.1016/j.eucr.2025.103311
State	Published - Jan 2026

Keywords

Disorders of sex development
Gonads
Urogenital abnormalities

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10.1016/j.eucr.2025.103311

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Chipa Beizaga, W. M., Orbegoso Celis, L. J., Torres Marigorda, B. J., Aguilar Ulloque, M. M., García Murga, K. N., Linares Vega, V., Imán Izquierdo, F. J., Aquino-Ortega, R., del Valle-Mendoza, J., & Silva-Caso, W. G. (2026). Urological management in a pediatric patient with mixed gonadal dysgenesis. Urology Case Reports, 64, Article 103311. https://doi.org/10.1016/j.eucr.2025.103311

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title = "Urological management in a pediatric patient with mixed gonadal dysgenesis",

abstract = "Disorders of sex development are conditions characterized by alterations in gonadal development that lead to discordance between chromosomal sex, gonadal sex, and phenotypic sex. We report the case of a 4 years old patient with ambiguous genitalia and 45,X/46,XY karyotype. A rudimentary uterus was visualized, and bilateral inguinal exploration was performed, during which the residual right spermatic cord was ligated and orchiectomy of the left testis located in the inguinal canal was carried out. This case highlights the relevance of clinical findings identified during physical examination and emphasizes the importance of multidisciplinary management due to the risk of gonadal malignancy.",

keywords = "Disorders of sex development, Gonads, Urogenital abnormalities",

author = "\{Chipa Beizaga\}, \{Wendy Matilde\} and \{Orbegoso Celis\}, \{Luis Jos{\'e}\} and \{Torres Marigorda\}, \{Brandom Juced\} and \{Aguilar Ulloque\}, \{Miguel Mart{\'i}n\} and \{Garc{\'i}a Murga\}, \{Kilder Nicolay\} and \{Linares Vega\}, Valeria and \{Im{\'a}n Izquierdo\}, \{Fernando Jeancarlos\} and Ronald Aquino-Ortega and \{del Valle-Mendoza\}, Juana and Silva-Caso, \{Wilmer Gianfranco\}",

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year = "2026",

month = jan,

doi = "10.1016/j.eucr.2025.103311",

language = "Ingl{\'e}s",

volume = "64",

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TY - JOUR

T1 - Urological management in a pediatric patient with mixed gonadal dysgenesis

AU - Chipa Beizaga, Wendy Matilde

AU - Orbegoso Celis, Luis José

AU - Torres Marigorda, Brandom Juced

AU - Aguilar Ulloque, Miguel Martín

AU - García Murga, Kilder Nicolay

AU - Linares Vega, Valeria

AU - Imán Izquierdo, Fernando Jeancarlos

AU - Aquino-Ortega, Ronald

AU - del Valle-Mendoza, Juana

AU - Silva-Caso, Wilmer Gianfranco

PY - 2026/1

Y1 - 2026/1

N2 - Disorders of sex development are conditions characterized by alterations in gonadal development that lead to discordance between chromosomal sex, gonadal sex, and phenotypic sex. We report the case of a 4 years old patient with ambiguous genitalia and 45,X/46,XY karyotype. A rudimentary uterus was visualized, and bilateral inguinal exploration was performed, during which the residual right spermatic cord was ligated and orchiectomy of the left testis located in the inguinal canal was carried out. This case highlights the relevance of clinical findings identified during physical examination and emphasizes the importance of multidisciplinary management due to the risk of gonadal malignancy.

AB - Disorders of sex development are conditions characterized by alterations in gonadal development that lead to discordance between chromosomal sex, gonadal sex, and phenotypic sex. We report the case of a 4 years old patient with ambiguous genitalia and 45,X/46,XY karyotype. A rudimentary uterus was visualized, and bilateral inguinal exploration was performed, during which the residual right spermatic cord was ligated and orchiectomy of the left testis located in the inguinal canal was carried out. This case highlights the relevance of clinical findings identified during physical examination and emphasizes the importance of multidisciplinary management due to the risk of gonadal malignancy.

KW - Disorders of sex development

KW - Gonads

KW - Urogenital abnormalities

UR - https://www.scopus.com/pages/publications/105024408958

U2 - 10.1016/j.eucr.2025.103311

DO - 10.1016/j.eucr.2025.103311

M3 - Artículo

AN - SCOPUS:105024408958

SN - 2214-4420

VL - 64

JO - Urology Case Reports

JF - Urology Case Reports

M1 - 103311

ER -

Urological management in a pediatric patient with mixed gonadal dysgenesis

Abstract

Keywords

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