Srpski arhiv za celokupno lekarstvo 2015 Volume 143, Issue 3-4, Pages: 214-218
https://doi.org/10.2298/SARH1504214T
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Complete androgen insensitivity syndrome
Tančić-Gajić Milina (School of medicine, Belgrade + Clinical Center of Serbia, Clinic for Endocrinology, Diabetes and Metabolism Diseases, Belgrade)
Vujović Svetlana (School of medicine, Belgrade + Clinical Center of Serbia, Clinic for Endocrinology, Diabetes and Metabolism Diseases, Belgrade)
Ivović Miomira (School of medicine, Belgrade + Clinical Center of Serbia, Clinic for Endocrinology, Diabetes and Metabolism Diseases, Belgrade)
Marina Ljiljana V. (School of medicine, Belgrade + Clinical Center of Serbia, Clinic for Endocrinology, Diabetes and Metabolism Diseases, Belgrade)
Arizanović Zorana (School of medicine, Belgrade + Clinical Center of Serbia, Clinic for Endocrinology, Diabetes and Metabolism Diseases, Belgrade)
Raković Dragana (School of medicine, Belgrade + Clinical Center of Serbia, Clinic for Endocrinology, Diabetes and Metabolism Diseases, Belgrade)
Micić Dragan (School of medicine, Belgrade + Clinical Center of Serbia, Clinic for Endocrinology, Diabetes and Metabolism Diseases, Belgrade)
Introduction. Androgen insensitivity syndrome (AIS) belongs to disorders of
sex development, resulting from complete or partial resistance to the
biological actions of androgens in persons who are genetically males (XY)
with normally developed testes and age-appropriate for males of serum
testosterone concentration. Case Outline. A 21-year-old female patient was
admitted at our Clinic further evaluation and treatment of testicular
feminization syndrome, which was diagnosed at the age of 16 years. The
patient had never menstruated. On physical examination, her external
genitalia and breast development appeared as completely normal feminine
structures but pubic and axillary hair was absent. Cytogenetic analysis
showed a 46 XY karyotype. The values of sex hormones were as in adult males.
The multisliced computed tomography (MSCT) showed structures on both sides of
the pelvic region, suggestive of testes. Bilateral orchiectomy was performed.
Hormone replacement therapy was prescribed after gonadectomy. Vaginal
dilatation was advised to avoid dyspareunia. Conclusion. The diagnosis of
complete androgen insensitivity is based on clinical findigs, hormonal
analysis karyotype, visualization methods and genetic analysis. Bilateral
gonadectomy is generally recommended in early adulthood to avoid the risk of
testicular malignancy. Vaginal length may be short requiring dilatation in an
effort to avoid dyspareunia. Vaginal surgery is rarely indicated for the
creation of a functional vagina.
Keywords: androgen insensitivity syndrome, 46 XY, androgen receptor, primary amenorrhea
Projekat Ministarstva nauke Republike
Srbije, br. 175067