Evidence-Based Management of Patients with 45,X/46,XY Gonadal Dysgenesis and Male Sex Assignment: from Infancy to Adulthood
Colindres, J.Viau.; Axelrad, M.; McCullough, L.; Smith, E.O'Brian.; Huang, G.O.; Tu, D.D.; Bercaw-Pratt, J.L.; Cheni, M-Jye.; Mendiratta, M.; Gunn, S.; Sutton, R.; Macias, C.; Karaviti, L.P.
Pediatric Endocrinology Reviews Per 13(3): 585-601
2016
ISSN/ISBN: 1565-4753 PMID: 27116846 Document Number: 689763
45,X/46,XY gonadal dysgenesis is a disorder of sexual differentiation with a wide clinical presentation, ranging from Turner-like females to individuals with genital ambiguity to azoospermic but otherwise normal-appearing males. Hence, patients can be assigned female or male sex. Female patients are managed according to the Turner Syndrome Guidelines, whereas males are managed on a case-by-case basis. Male patients present with multiple medical challenges: undervirilization, hypogonadism, gonadoblastoma risk, and short stature. Many require surgeries and hormonal treatments that are time-sensitive and irreversible. Nonetheless, these therapeutic decisions are made without evidence-based guidelines. This review describes the medical concerns and possible interventions in male patients with 45,X/46,XY dysgenesis for each stage of development. Interventions should be addressed within a patient-centered framework by a multidisciplinary team and after thorough discussion with the family. We use the GRADE system to appraise the existing evidence and provide recommendations based on the available evidence.