title: State of the art review in gonadal dysgenesis: challenges in diagnosis and management.
abstract: Gonadal dysgenesis, a condition in which gonadal development is interrupted leading to gonadal dysfunction, is a unique subset of disorders of sexual development (DSD) that encompasses a wide spectrum of phenotypes ranging from normally virilized males to slightly undervirilized males, ambiguous phenotype, and normal phenotypic females. It presents specific challenges in diagnostic work-up and management. In XY gonadal dysgenesis, the presence of a Y chromosome or Y-chromosome material renders the patient at increased risk for developing gonadal malignancy. No universally accepted guidelines exist for identifying the risk of developing a malignancy or for determining either the timing or necessity of performing a gonadectomy in patients with XY gonadal dysgenesis. Our goal was to evaluate the literature and develop evidence-based medicine guidelines with respect to the diagnostic work-up and management of patients with XY gonadal dysgenesis. We reviewed the published literature and used the Grading of Recommendation, Assessment, Development, and Evaluation (GRADE) system when appropriate to grade the evidence and to provide recommendations for the diagnostic work-up, malignancy risk stratification, timing or necessity of gonadectomy, role of gonadal biopsy, and ethical considerations for performing a gonadectomy. Individualized health care is needed for patients with XY gonadal dysgenesis, and the decisions regarding gonadectomy should be tailored to each patient based on the underlying diagnosis and risk of malignancy. Our recommendations, based on the evidence available, add an important component to the diagnostic and management armament of physicians who treat patients with these conditions.
authors.affiliation: Division of Pediatric Endocrinology, Baylor College of Medicine, Texas Children's Hospital, Houston, TX 77030, USA.
authors.forename: Bonnie
authors.initials: B
authors.lastname: McCann-Crosby
authors.affiliation: Division of Pediatric and Adolescent Gynecology, Department of Obstetrics and Gynecology, Baylor College of Medicine, Texas Children's Hospital, Houston, TX 77030, USA.
authors.forename: Roshanak
authors.initials: R
authors.lastname: Mansouri
authors.affiliation: Division of Pediatric and Adolescent Gynecology, Department of Obstetrics and Gynecology, Baylor College of Medicine, Texas Children's Hospital, Houston, TX 77030, USA.
authors.forename: Jennifer E
authors.initials: JE
authors.lastname: Dietrich
authors.affiliation: Center for Medical Ethics and Health Policy, Baylor College of Medicine, Texas Children's Hospital, Houston, TX 77030, USA.
authors.forename: Laurence B
authors.initials: LB
authors.lastname: McCullough
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Texas Children's Hospital, Houston, TX 77030, USA.
authors.forename: V Reid
authors.initials: VR
authors.lastname: Sutton
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Texas Children's Hospital, Houston, TX 77030, USA.
authors.forename: Elise G
authors.initials: EG
authors.lastname: Austin
authors.affiliation: Division of Pediatric Urology, Department of Surgery, Baylor College of Medicine, Texas Children's Hospital, Houston, TX 77030, USA.
authors.forename: Bruce
authors.initials: B
authors.lastname: Schlomer
authors.affiliation: Division of Pediatric Urology, Department of Surgery, Baylor College of Medicine, Texas Children's Hospital, Houston, TX 77030, USA.
authors.forename: David R
authors.initials: DR
authors.lastname: Roth
authors.affiliation: Division of Pediatric Endocrinology, Baylor College of Medicine, Texas Children's Hospital, Houston, TX 77030, USA.
authors.forename: Lefkothea
authors.initials: L
authors.lastname: Karaviti
authors.affiliation: Division of Pediatric Endocrinology, Baylor College of Medicine, Texas Children's Hospital, Houston, TX 77030, USA.
authors.forename: Sheila
authors.initials: S
authors.lastname: Gunn
authors.affiliation: Department of Pathology, Baylor College of Medicine, Texas Children's Hospital, Houston, TX 77030, USA.
authors.forename: M John
authors.initials: MJ
authors.lastname: Hicks
authors.affiliation: Evidence-Based Outcomes Center, Baylor College of Medicine, Texas Children's Hospital, Houston, TX 77030, USA.
authors.forename: Charles G
authors.initials: CG
authors.lastname: Macias
keywords: Carcinoma in situ; Complete gonadal dysgenesis; Dysgerminoma; Ethics; Gonadal biopsy; Gonadectomy; Gonadoblastoma; Malignancy risk; Partial gonadal dysgenesis; XY gonadal dysgenesis
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