Evidence-based management of patients with 45,X/46,XY gonadal dysgenesis and male sex assignment: From infancy to adulthood

Johanna Viau Colindres, Marni Axelrad, Laurence McCullough, E. O.Brian Smith, Gene O. Huang, Duong D. Tu, Jennifer L. Bercaw-Pratt, Min Jye Chen, Meenal Mendiratta, Sheila Gunn, Reid Sutton, Charles Macias, Lefkothea P. Karaviti

Research output: Contribution to journalArticlepeer-review

9 Scopus citations


45,X/46,XY gonadal dysgenesis is a disorder of sexual differentiation with a wide clinical presentation, M 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 multipte 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.

Original languageEnglish (US)
Pages (from-to)585-601
Number of pages17
JournalPediatric Endocrinology Reviews
Issue number3
StatePublished - Mar 2016
Externally publishedYes


  • Gonadal dysgenesis
  • Gonadal function in gonadal dysgenesis
  • Gonadoblastoma
  • Growth hormone in gonadal dysgenesis
  • Growth in gonadal dysgenesis
  • Prenatal diagnosis
  • Sex assignment


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