Serkal Syndrome

SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterised by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs.

Epidemiology

The syndrome is lethal and has been described in three foetuses.

Etiology

It is caused by homozygous missense mutations in the WNT4 gene.

Genetic counseling

It is transmitted as an autosomal recessive trait.