SERKAL syndrome

46,XX testicular disorder of sex development [DS:H00598]

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.

Reproductive system disease

WNT4 [HSA:54361] [KO:K00408]

PMID:15932923

Heikkila M, Prunskaite R, Naillat F, Itaranta P, Vuoristo J, Leppaluoto J, Peltoketo H, Vainio S

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.

Endocrinology 146:4016-23 (2005)
DOI:10.1210/en.2005-0463

PMID:18179883

Mandel H, Shemer R, Borochowitz ZU, Okopnik M, Knopf C, Indelman M, Drugan A, Tiosano D, Gershoni-Baruch R, Choder M, Sprecher E

SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4.

Am J Hum Genet 82:39-47 (2008)
DOI:10.1016/j.ajhg.2007.08.005