46,XX男性症候群之罕見案例報告

廖偉創、張彰琦、程威銘

臺北市立聯合醫院忠孝院區外科部泌尿科

46, XX male reversal syndrome: a rare case report

Wei-Chuang Liao, Chang-Chi Chang, Wei-Ming Cheng

Division of Urology, Department of Surgery, Taipei City Hospital, Zhongxiao Branch

Introduction

The 46, XX male syndrome, also named as male reversal syndrome or XX, testicular disorder of sexual development is a rare clinical disease with overall incidence of 1:20000 to 1:25000 in newborn males. These patients generally have normal masculine phenotype and intelligence. They are often diagnosed due to gynecomastia, hypogonadism or infertility. In this report, we described a case of 46, XX male adult presented with erectile dysfunction and incidentally diagnosed as 46, XX karyotype by chromosomal study.

Case presentation

A 32-year-old intelligent, unmarried male presented to our outpatient clinic, complaining of erectile dysfunction. He claimed to have morning erections regularly and normal sexual desire. The Erection Hardness Score indicated the grade IV. His height was 173 cm with arm span equal to height and the body weight mass index (BMI) was in the healthy range. The patient had a normal masculine appearance, no gynecomastia and normal male external genitalia. His facial, axillary and pubic hair were well developed and all of normal distribution. Physical examination revealed normal length of penis but atrophy of both scrotal testes. Scrotal ultrasonography showed a bilateral small testicular size which right and left testes measured 17.37 and 19.25mm in length, respectively. Moderate varicoceles at both side were noted by Doppler scrotal ultrasonography. Incidentally, hormonal laboratory value reported hyperprolactinemia with serum level of Prolactin at 38.8ng/ml. Serum luteinizing hormone (LH) and follicle stimulating hormone (FSH) were estimated at 30.71 and 48.6mIU/ml respectively (normal ranges are 1.7–8.6mIU/ml and 1.5–12.4mIU/ml respectively). The serum testosterone concentration was normal at 305ng/dl according to recent guidelines from the American Urological Association (AUA), at least level at 300ng/dl. The primary semen analysis demonstrated low semen volume with normal sperm count but without motility and morphology. The dynamic contrast enhanced MRI showed right anterior pituitary microadenoma. Treatment this patient was initiated on dopaminergic medication used to treat high level of Prolactin. Interestingly, the repeated semen analysis after three months demonstrated low semen volume and azoospermia. Chromosomal studies obtained from peripheral blood culture revealed karyotype 46, X, der(X) inv(X) (p22. 1q26) (Fig 1).

Conclusion

The 46, XX male individuals have normal height, intelligence and testosterone level but sometimes present with gynecomastia, small testicles and infertility with azoospermia. Although these patients had no chance of bearing a child, they should be protected from negative effects of testosterone deficiency by replacement therapies.