ESPE Abstracts (2015) 84 P-3-794

A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome

Hale Tuhana, Ahmet Anika, Ayca Aykutb, Huseyin Onayb, Ece Bobera & Ayhan Abacia


aFaculty of Medicine, Department of Pediatric Endocrinology, Dokuz Eylül University, Izmir, Turkey; bFaculty of Medicine, Department of Medical Genetics, Ege University, Izmir, Turkey


Background: Androgen insensitivity syndrome is the most common cause of 46,XY disorders of sex development. This condition is inherited in an x-linked recessive pattern and the most common causes are inactivating mutations in the androgen receptor (AR) gene.

Objective and hypotheses: In this study, we report a novel AR gene mutation in an adolescent patient presenting with primary amenorrhea.

Method: A 16-year-old patient was admitted to our department for primary amenorrhea. According to the past medical history her breast development began 12 years old.

Results: Physical examination revealed that external genitalia structure was totally consistent with a female phenotype; breast development was Tanner stage 5 and pubic hair was Tanner stage 1. Laboratory tests revealed that basal LH: 24.44 mIU/ml; FSH: 1.36 mIU/ml; total testosterone: 5.29 ng/ml; E2: 37 pg/ml; Karyotype analysis was reported to be 46,XY. Pelvic ultrasonography failed to identify bilateral gonads, an image in 30×7 mm which could be related to hypoechoic rudimentary uterus was obtained. As a result of serial analysis of gene expression, a novel heterozygous mutation was identified in the AR gene. The gonads were removed in order to avoid the malignant risk.

Conclusion: As a result, with this case report we emphasized that, i) 46,XY disorders of sex development should be considered in differential diagnosis of the patients with female phenotype presenting with bilateral inguinal hernia in the period and, ii) CAIS should be considered in differential diagnosis of the patients with female phenotype and breast development presenting with primary amenorrhoea.

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