ArticleFrontiers in endocrinology2026
Case Report: Familial complete androgen insensitivity syndrome across four sisters from childhood to adulthood - a hemizygous AR p.Trp742Leu variant and a 14-year failure to initiate familial cascade evaluation.
Article in Frontiers in endocrinology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
We describe a family, with the same biological mother and father, in which complete androgen insensitivity syndrome (CAIS) was identified across 4 phenotypic female sisters spanning a 14-year diagnostic interval from the eldest sister's diagnosis in adolescence to the proband's self-presentation as an adult. The proband, a 27-year-old, presented with primary amenorrhea, Tanner 5 breast development, absent axillary and pubic hair, and bilateral inguinal gonads on imaging. Pre-operative hormonal evaluation revealed elevated luteinizing hormone (28.1 mIU/mL), total testosterone within the adult male reference range (8.2 ng/mL; 820 ng/dL; 28.5 nmol/L), and estradiol within the lower female range (42 pg/mL; 154 pmol/L). Sequencing of the
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