SERKAL syndrome is an autosomal recessive syndrome that consists of female to male sex reversal and renal, adrenal, and lung dysgenesis and is associated with additional developmental defects. It is caused by loss-of-function mutations in WNT4.
Heikkila M, Prunskaite R, Naillat F, Itaranta P, Vuoristo J, Leppaluoto J, Peltoketo H, Vainio S
タイトル
The partial female to male sex reversal in Wnt-4-deficient females involves induced expression of testosterone biosynthetic genes and testosterone production, and depends on androgen action.
