A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome
Makaleler > Tam Makale · 2015
Yazarlar: Hale Tuhan, Ayhan Abaci, Ayça AYKUT, Ahmet Anik, Hüseyin Onay, Ece Bober
AACE Clinical Case Reports, Uluslararası, Scopus, 2015, cilt 2, ss e202-e205
DOI: 10.4158/ep15734.cr
Özet
Objective: Androgen insensitivity syndrome is the most common cause of 46,XY disorders of sex development (DSD). This condition is inherited from an X-linked recessive pattern, and the most common causes are inactivating mutations in the androgen receptor ( AR ) gene. The current study reports a novel AR gene mutation in an adolescent patient presenting with primary amenorrhea. Methods: A 16-year-old patient was admitted to our department with complaints of primary amenorrhea and a request for genetic counseling. The patient's medical history revealed that she underwent a bilateral inguinal hernia operation when she was 4 months old. The physical examination revealed that the external genitalia structure was totally consistent with a female phenotype; and according to the Tanner stages, breast and pubic hair development were stages 5 and 1, respectively. Karyotype analysis was reported to be 46,XY. Therefore, the diagnosis of complete androgen insensitivity syndrome (CAIS) was suspected, and the AR gene was sequenced. Results: AR gene mutation analysis revealed a novel hemizygous frameshift mutation (c.1629_1630insA; p.R544KfsX8) as the cause of the phenotype in this patient. Conclusion: This case report emphasizes that: ( 1 ) 46,XY DSD should be considered in the differential diagnosis of patients with a female phenotype presenting with bilateral inguinal hernia during the early infancy period, and ( 2 ) CAIS should be considered in the differential diagnosis of patients with female phenotype and breast development presenting with primary amenorrhea. Abbreviations: AIS = androgen insensitivity syndrome AMH = anti-Müllerian hormone AR = androgen receptor 17-β HSD = 17-β-hydroxysteroid dehydrogenase CAIS = complete androgen insensitivity syndrome DSD = disorders of sex development E2 = estradiol N = normal SRD5A2 = 5-alpha-reductase type 2