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Year : 2018  |  Volume : 3  |  Issue : 2  |  Page : 68-72

Androgen insensitivity syndrome: An experience of genetic analysis of a family from a tertiary center – Saudi Arabia

1 Department of Pediatrics, Security Forces Hospital, Riyadh, Saudi Arabia
2 King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
3 Department of Pediatrics, College of Medicine, Al-Imam Muhammad Ibn Saud Islamic University, Riyadh, Saudi Arabia

Correspondence Address:
Dr. Abdullah Y Al-Faifi
Department of Pediatrics, Security Forces Hospital, Riyadh
Saudi Arabia
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijas.ijas_14_18

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Androgen insensitivity syndrome (AIS) is a disorder of sex development caused by mutations in the gene encoding the androgen receptor (AR). It is characterized by 46 XY karyotype, bilateral testes, absent mullerian duct structure, and female appearing external genitalia. This is a hospital-based case series study which comprised three cases who were seen at the Security Forces Hospital, Riyadh, Saudi Arabia. Case notes, imaging, and laboratory investigations indicated AIS among the three cases, with no variable degrees of insensitivity ranging. All three cases were within the same family, and there were two cases who were carriers for the mutation. One of these cases had an affected daughter (case #3) mentioned above. The present study identified a certain mutation (p.Arg775Cys) in a Saudi family. The mutation provides insights into the molecular mechanism underlying complete AIS and expands on a number of mutational hot spots in the international AR mutation database, especially in our community. The extent of androgen insensitivity in 46 XY individuals is not rare in a community with a high prevalence of consanguineous marriages. A multidisciplinary team approach is essential for successful management. Furthermore, it will be useful in the future for prenatal diagnosis and genetic counseling.

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