Evidence-Based Management of Patients with 45,X/46,XY Gonadal Dysgenesis and Male Sex Assignment: from Infancy to Adulthood.
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.
Johanna Viau
JV
Colindres
Marni
M
Axelrad
Laurence
L
McCullough
E O'Brian
EO
Smith
Gene O
GO
Huang
Duong D
DD
Tu
Jennifer L
JL
Bercaw-Pratt
Min-Jye
MJ
Cheni
Meenal
M
Mendiratta
Sheila
S
Gunn
Reid
R
Sutton
Charles
C
Macias
Lefkothea P
LP
Karaviti
D000293:Adolescent; D000328:Adult; D002648:Child; D055317:Evidence-Based Practice / Q000592:standards; D005260:Female; D006061:Gonadal Dysgenesis, 46,XY / Q000175:diagnosis / Q000628:therapy*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D017410:Practice Guidelines as Topic; D011247:Pregnancy; D011296:Prenatal Diagnosis; D057829:Gender-Affirming Procedures / Q000592:standards / Q000706:statistics & numerical data*