Chondrodysplasia-Pseudohermaphroditism Syndrome

The Nivelon-Nivelon-Mabille syndrome (NNMS), formerly referred to as chondrodysplasia-pseudohermaphroditism syndrome, is a rare autosomal recessive disorder that presents with microcephaly, early onset seizures in infancy, cerebellar vermis hypoplasia, and complete gonadal dysgenesis in individuals with a 46,XY karyotype. In accordance with a study conducted in 2014 by Callier and his colleagues, the development of Nivelon-Nivelon-Mabille syndrome (NNMS) is attributed to a mutation in the hedgehog acyl-transferase gene (HHAT) located on chromosome 1q32 (Callier et al. 2014). The disease in question exhibits an overall incidence rate of less than one per one million individuals globally. The medical condition known as chondrodysplasia-pseudohermaphroditism syndrome was initially discovered in 1992 by A. Nivelon, a French geneticist, and his team, who observed its manifestation in two siblings. The investigation elucidated that the very first sibling exhibited typical female external and internal genitalia, despite possessing a karyotype of 46,XY. The second pregnancy was terminated subsequent to antenatal diagnosis of similar clinical manifestations, albeit with a 46,XX karyotype (Nivelon et al. 1992).