We describe a rare case of SRY-negative 46, XX
male
syndrome
co-existing
with
bone marrow failure. WES reveals SRY gene and SRY-box family genes were
negative. Gene variants could affect testicles development of 46 XX male
syndrome. WES is more comprehensive in detecting genetic mutations of
SDS.
The
underlying mechanisms of SRY negative 46, XX males with bone marrow
failure needs to be further studied.