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首页> 外文期刊>Asian Journal of Andrology >46, XX male sex reversal syndrome
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46, XX male sex reversal syndrome

机译：46，XX男性性逆转综合症

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46, XX male sex reversal syndrome is a rare anomaly with the characteristics of discordant chromosomal and gonadal sex. Since 1988, 5 children, aged 2-7 years, with normal height and body weight, were admitted to this hospital with hypospadias and chordee (1 perineal, 2 penoscrotal and 1 penile curvature with short urethra anomaly) in 4, obesity and hirsutism in 1, cryptorchid-ism in 1 and penocrotal transposition in 1. Unusually, a 7- year-old child exhibited a male pattern hair distribution at the pubic and axillary regions and hypospadias with the orifice at the proximal shaft. Their testes, especially the one with cryptorchidism, were slightly smaller compared with these of normal boys, while the penile length was practically normal. The general appearances of the five children were typically male with a male psy-chosexual identification. Intelligence evaluation was normal in all. The serum testosterone was < 7.3 nmol/L (normal: > 20 nmol/L) and the mean FSH was 4.4 IU/L (3.2 IU/L- 6.2 IU/L) (normal: 1.5IU/L - 11.5IU/L) and mean LH, 2.2 IU/L (1.5 IU/L- 3.1 IU/L) (normal: 1.1 IU/L-8.2IU/L). The karyotypes were 46, XX. Molecular analysis revealed SRY-positive in 3 boys. B-ultra-sonography did not detect female genital organs and the size of testes ranged from 1.5 cm x 1.0 cm x 0.8 cm to 2.0 cm x 1.5 cm x 1.2 cm with normal echoes. Voiding cystourethrogram revealed prostatic utricles in two boys and grade I vesicoureteral reflux in one. Cystourethro-scopy confirmed the radiological findings. Diagnostic laparotomy or laparoscopy was performed and did not find the ovary and uterus. Gonadal biopsy was performed only in two boys during orchidopexy and revealed diffuse hyalinized seminiferous tubules with Sertoli cells and marked interstitial cell hyperplasia.
机译：46，XX男性性逆转综合症是一种罕见的异常现象，具有染色体和性腺行为不一致的特征。自1988年以来，有4名肥胖和多毛症患者被收治为5例年龄在2-7岁之间，身高和体重正常的儿童，患有尿道下裂和腱索（1会阴，2阴囊阴茎和1阴茎弯曲，尿道短）。 1，隐睾症1，阴囊移位1。通常，一个7岁的孩子在耻骨和腋窝区域和尿道下裂处表现出男性型毛发分布，孔在近端干。他们的睾丸，特别是隐睾症的睾丸，比正常男孩的睾丸略小，而阴茎的长度实际上是正常的。这五个孩子的一般外表通常是男性，男性为男性-同性恋。智力评估总体上是正常的。血清睾丸激素<7.3 nmol / L（正常：> 20 nmol / L），平均FSH为4.4 IU / L（3.2 IU / L- 6.2 IU / L）（正常：1.5IU / L-11.5IU / L ）和平均LH为2.2 IU / L（1.5 IU / L- 3.1 IU / L）（正常：1.1 IU / L-8.2IU / L）。核型为46，XX。分子分析显示3名男孩的SRY阳性。 B超检查未检测到女性生殖器官，睾丸大小在1.5厘米x 1.0厘米x 0.8厘米至2.0厘米x 1.5厘米x 1.2厘米之间，回声正常。胆囊性心电图检查发现两个男孩患有前列腺囊肿，一个男孩患有I级膀胱输尿管反流。膀胱镜检查证实了放射学发现。进行了诊断性剖腹手术或腹腔镜检查，未发现卵巢和子宫。仅在两个男孩的兰科手术期间进行了性腺活检，并发现弥漫性透明化的曲细精管中有支持细胞和明显的间质细胞增生。

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