TY - JOUR
T1 - Evidence-based management of patients with 45,X/46,XY gonadal dysgenesis and male sex assignment
T2 - From infancy to adulthood
AU - Colindres, Johanna Viau
AU - Axelrad, Marni
AU - McCullough, Laurence
AU - Smith, E. O.Brian
AU - Huang, Gene O.
AU - Tu, Duong D.
AU - Bercaw-Pratt, Jennifer L.
AU - Chen, Min Jye
AU - Mendiratta, Meenal
AU - Gunn, Sheila
AU - Sutton, Reid
AU - Macias, Charles
AU - Karaviti, Lefkothea P.
PY - 2016/3
Y1 - 2016/3
N2 - 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.
AB - 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.
KW - Gonadal dysgenesis
KW - Gonadal function in gonadal dysgenesis
KW - Gonadoblastoma
KW - Growth hormone in gonadal dysgenesis
KW - Growth in gonadal dysgenesis
KW - Prenatal diagnosis
KW - Sex assignment
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M3 - Article
C2 - 27116846
AN - SCOPUS:84973408429
SN - 1565-4753
VL - 13
SP - 585
EP - 601
JO - Pediatric Endocrinology Reviews
JF - Pediatric Endocrinology Reviews
IS - 3
ER -