Mixed Gonadal Dysgenesis: A Narrative Literature Review and Clinical Primer for the Urologist.

Autor:	Corona LE; Department of Urology, Vanderbilt University Medical Center, Nashville, Tennessee., Lee VS; Northwestern University Feinberg School of Medicine, Chicago, Illinois., Weisman AG; Division of Genetics, Genomics, and Metabolism, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois.; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois., Rosoklija I; Division of Urology, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois., Hirsch J; Division of Urology, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois., Whitehead J; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois.; Division of Endocrinology, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois., Almaghraby A; IWK Health System, Dalhousie University, Halifax, Canada.; Umm Al-Quara University, Mecca, Saudi Arabia., Papadakis J; Pritzker Department of Psychiatry and Behavioral Health, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois.; Department of Psychiatry and Behavioral Sciences, Northwestern University Feinberg School of Medicine, Chicago, Illinois., Yuodsnukis B; Department of Psychology, University of Illinois Chicago, Chicago, Illinois., Chen D; Pritzker Department of Psychiatry and Behavioral Health, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois.; Department of Psychiatry and Behavioral Sciences, Northwestern University Feinberg School of Medicine, Chicago, Illinois., Finlayson C; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois.; Division of Endocrinology, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois., Yerkes EB; Division of Urology, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois.; Department of Urology, Northwestern University Feinberg School of Medicine, Chicago, Illinois., Cheng EY; Division of Urology, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois.; Department of Urology, Northwestern University Feinberg School of Medicine, Chicago, Illinois., Johnson EK; Division of Urology, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois.; Department of Urology, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
Jazyk:	angličtina
Zdroj:	The Journal of urology [J Urol] 2024 Nov; Vol. 212 (5), pp. 660-671. Date of Electronic Publication: 2024 Jul 05.
DOI:	10.1097/JU.0000000000004137
Abstrakt:	Purpose: Mixed gonadal dysgenesis is a difference of sex development that is often confused with other conditions. Individuals have a 45,X/46,XY karyotype. Gonads are characterized by a streak gonad and a dysgenetic testis at varying levels of descent. Persistent Müllerian structures are typical (eg, hemi-uterus). There is significant phenotypic heterogeneity of the internal and external genitalia that, together with different interpretations of the definition, have contributed to a poor understanding of the condition among pediatric urologists. Mixed gonadal dysgenesis is one manifestation of the 45,X/46,XY karyotype. 45,X/46,XY mosaicism can also be associated with typical female or male external genitalia. This review aims to clarify the mixed gonadal dysgenesis definition and to provide urologists with diagnostic and management considerations for affected individuals. Materials and Methods: We searched 3 medical databases for articles related to mixed gonadal dysgenesis. Two hundred eighty-seven full-text abstracts and manuscripts were reviewed for content pertinent to: (1) clarifying the definition of mixed gonadal dysgenesis, and (2) describing the following related to the care of affected individuals: prenatal and neonatal evaluation and management, genital surgery, gonadal malignancy risk and management, fertility, gender dysphoria/incongruence, puberty and long-term outcomes, systemic comorbidities, and transitional care. Results: Fifty articles were included. Key points and implications for each of the above topics were summarized. Conclusions: Mixed gonadal dysgenesis exists on a wide phenotypic spectrum and management considerations reflect this heterogeneity. Care for individuals with mixed gonadal dysgenesis is complex, and decisions should be made in a multidisciplinary setting with psychological support.
Databáze:	MEDLINE
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