Introduction: Partial androgen insensitivity syndrome (PAIS) is a heterogeneous group of intersex disorders arising from tissue resistance to androgen action due to mutations of the androgen receptor. The phenotypic expression of the syndrome varies considerably and external genitalias masculinization depends on residual activity of the androgen receptor while gynecomastia is observed in most of the cases.
Case report: We present the case of a 16 years old phenotypic female patient, who presented with primary amenorrhea. Clinical examination revealed moderate hirsutism of face and lower abdomen, normal axillary and pubic hair growth, complete absence of breast development and clitoromegaly. Gynecological examination revealed a blind vagina pouch. Hormonal evaluation revealed elevated serum FSH and LH levels with normal serum estradiol while testosterone and DHT levels were within the normal range for male adolescents. Ultrasound examination of internal genitalia revealed the bilateral presence of testes at the external opening of the inguinal canal. The karyotype from peripheral blood lymphocytes was that of a normal male (46XY). The patient underwent bilateral gonadectomy and then she was put on replacement therapy with conjugated estrogens. A year later, she had a satisfactory breast development (Tanner 3) and she underwent a vaginal widening in order to have a normal sexual life.
Conclusion: The possibility of partial androgen insensitivity syndrome (PAIS) should be considered in any case of primary amenorrhea. Early diagnosis is important because the risk of malignancy in intra-abdominal testes is high.
Prague, Czech Republic
24 - 28 Apr 2010
European Society of Endocrinology