Abstract
Complete androgen insensitivity syndrome (CAIS) is due to complete resistance to the action of androgens, determining a female phenotype in persons with a 46,XY karyotype and functioning testes. CAIS is caused by inactivating mutations in the androgen receptor gene (AR). It is organized in eight exons located on the X chromosome. Hundreds of genetic variants in the AR gene have been reported in CAIS. They are distributed throughout the gene with a preponderance located in the ligand-binding domain. CAIS mainly presents as primary amenorrhea in an adolescent female or as a bilateral inguinal/labial hernia containing testes in prepubertal children. Some issues regarding the management of females with CAIS remain poorly standardized (such as the follow-up of intact testes, the timing of gonadal removal and optimal hormone replacement therapy). Basic research will lead to the consideration of new issues to improve long-term well-being (such as bone health, immune and metabolic aspects and cardiovascular risk). An expert multidisciplinary approach is mandatory to increase the long-term quality of life of women with CAIS.
Highlights
Received: 9 December 2020Androgen insensitivity syndrome (AIS; OMIM#300068; ORPHA99429; ICD10-E34.5)is a main disorder of sex development (DSD) with a 46,XY karyotype [1,2,3].Albeit rare [1,2,3,4], AIS likely represents the most frequent 46,XY DSD, ranging from 40 to 80% in some series [4,5,6,7]
Some aspects related to the molecular genetics, diagnosis and management of complete AIS (CAIS) are summarized, and some controversial aspects are discussed, taking into account some findings from basic research
Malignant transformation of the gonads is the most feared complication in women with CAIS [3,8,9]; timing of gonadectomy to prevent cancer is an issue of debate [16]
Summary
Is a main disorder (or difference) of sex development (DSD) with a 46,XY karyotype [1,2,3]. Albeit rare (with an estimated prevalence of 1:20,000–1:100,000 births) [1,2,3,4], AIS likely represents the most frequent 46,XY DSD, ranging from 40 to 80% in some series [4,5,6,7]. AIS is characterized by the presence of male gonads (testes) in subjects with a female phenotype or with varying degrees of undervirilization of the internal and/or external genitalia [1,2,3]. Some aspects related to the molecular genetics, diagnosis and management of complete AIS (CAIS) are summarized, and some controversial aspects are discussed, taking into account some findings from basic research. Publisher’s Note: MDPI stays neutral with regard to jurisdictional claims in published maps and institutional affiliations
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