46, XX SEX Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs (SERKAL)

For the first time, an Arab family’s newborn whose parents were second cousins drew attention of Mandel et al. (2008). The infant died due to type 1 citrullinemia when it was only 4 days old. Having struggled with the interruption of the first pregnancy, the parents decided to do the same while carrying the second one. They also reported three other spontaneous miscarriages in their first trimester. Mandel et al. (2008) decided to study two of their affected fetuses in addition to a similar case of their relatives owing to the fact that they all had shown overlapping signs such as renal agenesis. Finally, it led to the introduction of a new syndrome, which is characterized by female to male sex reversal along with anomalies of the kidneys, adrenal glands, and lungs. It is known that it has an antenatal onset with a rare prevalence (less than 1/1000000) (Mandel et al. 2008; OrphaNet 2008).