Clinical diagnostic features of complete androgen insensitivity syndrome

doi:10.3877/cma.j.issn.2095-655X.2016.04.012

Abstract

Abstract:

Objective

To explore the clinic diagnostic features of complete androgen insensitivity syndrome (CAIS).

Methods

The medical records of two patients with CAIS and the relevant literatures were retrospectively reviewed.

Results

Both patients were treated as primary amenorrhea.They had a female phenotype with normal external genitalia, normal breast development, and little axillary and pubic hair.The digital vaginal examination revealed a short and blind-ended vagina.An ultrasound (US) exam showed no uterus and ovary.Computed tomography (CT) showed masses on both sides of groin.Follide-stimulating hormone (FSH) and luteinizing hormone (LH) level increased in case 1 and LH level increased in case 2.They had a karyotype of 46, XY and SRY gen, and the masses on both sides of groin were testicular tissue.

Conclusions

For patients with primary amenorrhea, blind-ended vagina, no uterus and ovary, chromosome exam and SRY genetic testing are essential for diagnosis of complete androgen insensitivity syndrome.

Key words: Disorders of sex development, Receptors, androgen, Diagnosis

Xiaoyue Gu, Aining Wu, Rongxin Yu, Xiaoxi Zhao. Clinical diagnostic features of complete androgen insensitivity syndrome[J]. Chinese Journal of Diagnostics(Electronic Edition), 2016, 04(04): 262-264.

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Figures/Tables 3

References 15

[1]	田秦杰,刘慧,郎景和. 完全型雄激素不敏感综合征的临床特征与变异[J]. 中国实用妇科与产科杂志, 2004, 20(12): 723-725.
[2]	Lubahn DB,Joseph DR,Sullivan PM, et al. Cloning of human androgen receptor complementary DNA and localization to the X chromomose[J]. Science, 1988, 240(4850): 327-330.
[3]	Hughes IA,Werner R,Bunch T, et al. Androgen insensitivity syndrome[J]. Semin Reprod Med, 2012, 30(5): 432-442.
[4]	刘彩霞,邢金英. 完全型雄激素不敏感综合征3例报道[J]. 现代妇产科进展, 2009, 18(10): 796-798.
[5]	董晓超,金杭美. 完全型雄激素不敏感综合征20例临床分析[J]. 实用妇产科杂志, 2015, 31(1): 70-72.
[6]	Hannema SE,Scott IS,Raipert-De Meyts E, et al.Testicular development in the complete androgen insensitivity syndrome[J]. J Pathol, 2006, 208(4): 518-527.
[7]	Kota SK,Kotni G,Pani JP, et al.A case of complete androgen insensitivity syndrome：genetic analysis of the family[J]. J Obst and Gynecol of India, 2014, 64(Suppl 1): 115-117.
[8]	王周,撒应龙,叶绪晓. 雄激素不敏感综合征临床诊疗分析(附6例报告)[J]. 临床泌尿外科杂志, 2013, 28(4): 287-291.
[9]	Wünsch L,Holterhus PM,Wessel L, et al.Patients with disorders of sex development (DSD) at risk of gonadal tumour development：management based on laparoscopic biopsy and molecular diagnosis[J]. BJU Int, 2012, 110(11 PtC): E958-965.
[10]	He B,Gampe RT,Kole AJ, et al.Structural basis for androgen receptor interdomain and coactivator interactions suggests a transition in nuclear receptor activation function dominance[J]. Mol Cell, 2004, 16(3): 425-438.
[11]	Eisermann K,Wang D,Jing Y, et al.Androgen receptor gene mutation, rearrangement, polymorphism[J]. Transl Androl Urol, 2013, 2(3): 137-147.
[12]	董素芳,刘辉勇,杜鹏辉, 等. 完全雄激素不敏感综合征患者AR基因的分子诊断[J]. 武汉大学学报(医学版), 2015, 36(1): 86-89.
[13]	Adachi M,Takayanagi R,Tomura A, et al.Androgen-insensitivity syndrome as a possible coactivator disease[J]. N Engl J Med, 2000, 343(12): 856-862.
[14]	应向军,撒应龙,徐佑璋, 等. 睾丸女性化综合征4例[J]. 现代泌尿外科杂志, 2003, 8(1): 3-4.
[15]	Bertelloni S,Dati E,Baroncelli GI, et al.Hormonalmanagement of complete androgen insensitivity syndrome from adolescence onward[J]. Horm Res Paediatr, 2011, 76(6): 428-433.

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