Журнал клинических случаев

Partial Androgen Insensitivity Syndrome Caused by a Novel Mutation

Abstract

Elisa Gonzalez, John Cleland, James Laurence Niki Karavitaki and Ashley B Grossman

The spectrum of androgen insensitivity syndrome (AIS) is well characterized, ranging from complete androgen insensitivity (CAIS) to varying degrees of partial and mild insensitivity (PAIS). There is evidence correlating loss of androgen receptor function caused by mutations with the clinical phenotype. We present a patient with phenotypic and biochemical evidence of partial androgen insensitivity who has a c.2746 T>C base pair substitution causing a p.Tyr916 His sequence variant in the androgen receptor that has not been previously reported. Furthermore, this mutation is in an atypical site, and the phenotype does not correspond with previous reports of complete androgen insensitivity caused by mutations in this region. This highlights potential deficiencies in our molecular understanding of this syndrome, and re-enforces that it is not appropriate to consider all patients with partial androgen insensitivity as a single cohort; we should instead consider different sub-groups when considering the molecular basis and subsequent therapy.