See: [Saudi Arabia> Abduljabbar et al. (2012)]

Abduljabbar et al. (2012) described two extended Saudi and Jordanian families affected with persistent Müllerian duct syndrome due to mutations in the AMH receptor type II.  The parents of the Saudi family were first cousins.  They had 6 sons and 2 daughters; 4 of the boys and one girl were homozygous for a stop codon mutation (c.6053C>T) in exon 9.  The proband presented with bilateral undescended testes at birth and developed left inguinal hernia at the age of 1 year.  Four months later, he underwent orchiopexy and hernia repair.  Both testes with a uterus, cervix, and fallopian tubes could be pulled into the left scrotum through a left inguinal incision.  His three older brothers had undergone prior surgery.  His remaining two brothers and both sisters were clinically normal.  The parents of the Jordanian family were not related; they had 4 girls and 2 boys.  One boy and one girl were homozygous for a transversion mutation (c.1973 C>G) in exon 6.  The proband was a 2 day-old boy presented with impalpable testes.  At the age of 9 months, laparoscopy showed a left inguinal hernia containing both testes with a uterus and cervix.  They were returned to the abdominal cavity and the uterus was dissected and removed, then the testes were fixed intro the scrotum.  His 4 sisters and brother were clinically normal.