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Androgen insensitivity syndrome AIS is an intersex condition that results in the partial or complete impotence of the cell to return to androgens. AIS is divided into three categories that are differentiated by the degree of genital masculinization: Management of AIS is currently limited to symptomatic management ; no method is currently available to correct the malfunctioning androgen receptor proteins produced by AR gene mutations. Areas of management include sex position , genitoplasty , gonadectomy in relation to tumor risk, hormone replacement therapy , genetic counseling , and psychological counseling.
AIS is broken down into three classes based on phenotype: The human androgen receptor AR is a protein encoded by a gene located on the proximal long arm of the X chromosome locus XqXq The AR gene contains two polymorphic trinucleotide microsatellites in exon 1. As of , over AR mutations have been reported in the AR mutation database, and the number continues to grow. Different case studies of fertile 46,XY males with AIS have d�mod� published,      although this group is thought to be a minority.
Kabuki syndrome also previously known as kabuki makeup syndrome, KMS, or Niikawa-Kuroki Syndrome is a pediatric congenital disorder of genetic launch. Specific symptoms for Kabuki syndrome vary, with sizable differences between affected individuals. Other common symptoms are skeletal abnormalities, short stature, heart defects, feeding difficulties and a failure to thrive, vision and hearing difficulties, weak muscle shape hypotonia , small guv'nor size microencephaly , and frequent infections.
Young children with Kabuki syndrome from early intervention services. School age children lean to have less medical issues requiring hospitalization, notwithstanding frequent infections, hearing shrinkage and feeding issues hit.
In addition, intellectual worsening, difficulty with visuospatial tasks and maintaining attention large require an IEP individualized education plan if the child attends public shape.
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