XX男性症候群–造成男性不孕症罕見的原因

陳人傑¹、黃志賢^1,2

¹臺北榮民總醫院 泌尿部; ²國立陽明交通大學醫學院 泌尿學科 書田泌尿科學研究中心

XX Male Syndrome – A Rare Cause of Male Infertility, Case Analysis in A Tertiary Fertility Service

Jen-Chieh Chen¹, Williams J. Huang^1,2

¹Department of Urology, Taipei Veterans General Hospital;

²Department of Urology, College of Medicine and Shu-Tien Urological Research Center, National Yang Ming Chiao Tung University, Taipei, Taiwan²

Purpose:

The XX male syndrome, first reported in 1964, is a rare cause of male infertility. Thirteen genetically proven XX males seeking for fertility service in our institute. The clinical characteristics, fertility outcomes and follow up condition are reviewed. To our knowledge, this is the largest series of XX male syndrome in English literature.

Materials and Methods:

From 2009 to 2020, 13 patients came to our fertility service due to azoospermia and were diagnosed with XX male syndrome. The patient demographic data, genetic testing results, hormonal profile, and management after diagnosis were investigated. Clinically, hypogonadism was defined with a total testosterone level < 300 ng/dL. The Mann-Whitney U test was used for statistic testing.

Results:

For these 13 patients, the mean age at diagnosis was 35.2 ± 6.6 (range 28-52). Their body height, body weight, and body mass index (BMI) were 169.3 ± 4.0 cm (162-176.3), 70.7 ± 11.4 kg (61.5-95), and 24.7 ± 4.1 kg/m² (17.0-33.5) respectively. The patients’ mean testicular volume was 3.0 ± 1.4 ml. One patient’s testicles were atrophic and bilateral vasa deferentia were hardly palpable. All patients presented with azoospermia on semen analysis. The chromosomal analysis revealed pure 46, XX karyotype in 9 patients (69%) and mosaic karyotype in 4 (31%). Among the 4 patients with mosaicism, one was 46, X,add(X)(p22.33), and the other 3 patients also expressed 46, XY karyotype; including 46, XX/ 45, X/ 46, XY; 46, XX/ 46, XY and 47, XXY/ 46, XX/ 46, XY. On hormonal analysis, among the 3 patients with 46, XY trait, 2 (67%) was diagnosed with eugonadism and 1 (33%) with hypogonadism. Among 10 patients without 46, XY (9 pure 46, XX and 1 46, X,add(X)(p22.33)), 1 (46, XX; 10%) had eugonadism and 9 (90%) had hypogonadism. Three of ten patients (30%) with hypogonadism had received testosterone replacement therapy. Diagnostic microdissection testicular sperm extraction (micro-TESE) was performed in 2 of the 3 patients presented 46, XY mosaicism, maturation arrest at the level of primary spermatocyte was identified in 1 patient. The other patient was found to have only herniated myometrial and endometrial tissue at the position of testicle in his right hemiscrotum. All patients were advised to consider donor sperm for their fertility need.

Conclusions:

XX male syndrome is a rare genetic disorder causing male infertility. The role of micro-TESE in patients who had 46, XY mosaicism is still not determined. Further experiences on such rare cases are expected.