| Autor: |
Johanna Viau, Colindres, Marni, Axelrad, Laurence, McCullough, E O'Brian, Smith, Gene O, Huang, Duong D, Tu, Jennifer L, Bercaw-Pratt, Min-Jye, Cheni, Meenal, Mendiratta, Sheila, Gunn, Reid, Sutton, Charles, Macias, Lefkothea P, Karaviti |
| Rok vydání: |
2016 |
| Předmět: |
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| Zdroj: |
Pediatric endocrinology reviews : PER. 13(3) |
| ISSN: |
1565-4753 |
| Popis: |
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. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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