Novel Missense Mutation in the P-Box of Androgen Receptor in a Patient with Androgen Insensitivity Syndrome

Endocrine Journal

Noriyuki KATSUMATA³  Toshiaki TANAKA¹  Reiko HORIKAWA² 

[1] Department of Clinical Laboratory Medicine, National Center for Child Health and Development;Division of Endocrinology and Metabolism, National Center for Child Health and Development;Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development

关键词: Androgen insensitivity syndrome;    Androgen receptor;    Gene;    Mutation;    Gender identity;   

DOI  :  10.1507/endocrj.K07-109

学科分类：内分泌与代谢学

来源: Japan Endocrine Society

【 摘 要 】

References(12)Mutations in the X-linked AR gene cause androgen insensitivity syndrome (AIS) by impairing androgen-dependent male sex differentiation to various degree. Here we describe a partial AIS patient with confliction with the assigned female sex. Although the patient was noticed to have ambiguous genitalia at birth, the patient was reared as a female with no medical intervention. At the age of 31 years, the patient visited us because the patient was dissatisfied with the assigned female sex. The patient was treated with systemic testosterone and topical dihydrotestosterone, but the external genitalia responded only minimally to the treatment. The genetic analysis revealed a novel missense K580R mutation in the P-box of the DNA-binding domain of androgen receptor, which was the first missense mutation shared by AIS and prostate cancer. Although the best predictor of the adult gender identity is documented to be the initial gender assignment in patients with partial AIS as well as those with complete AIS, deciding gender assignment for infants with partial AIS is still challenging.

【 授权许可】

Unknown