Jain Manish, V Veeramohan, Chaudhary Isha, Halder Ashutosh
Scientist, Department of Reproductive Biology, AIIMS , New Delhi, India .
J Clin Diagn Res. 2013 Jul;7(7):1457-9. doi: 10.7860/JCDR/2013/5186.3169. Epub 2013 Jul 1.
The XX male syndrome is a rare genetic disorder. The phenotype is variable; it ranges from a severe impairment of the external genitalia to a normal male phenotype with infertility. It generally results from an unequal crossing over between the short arms of the sex chromosomes (X and Y). We are reporting a case of a 38-year-old man who presented with infertility and the features of hypogonadism and glaucoma. The examinations revealed normal external male genitalia, soft small testes, gynaecomastia and glaucoma. The semen analysis showed azoospermia. The serum gonadotropins were high, with low Anti Mullerian Hormone (AMH) and Inhibin B levels. The chromosomal analysis demonstrated a 46, XX karyotype. Fluorescent In-Situ Hybridization (FISH) and Polymerase Chain Reaction (PCR) revealed the presence of a Sex-determining Region Y (SRY). Testicular Fine Needle Aspiration Cytology (FNAC) revealed the Sertoli Cell Only Syndrome (SCOS). The presence of only Sertoli Cells in the testes, with glaucoma in the XX male syndrome, to our knowledge, has not been reported in the literature.
XX男性综合征是一种罕见的遗传性疾病。其表型具有多样性，从严重的外生殖器发育不全到具有不育症的正常男性表型不等。它通常是由于性染色体（X和Y）短臂之间的不等交换所致。我们报告一例38岁男性病例，该患者表现为不育以及性腺功能减退和青光眼的特征。检查发现其外生殖器为正常男性外观，睾丸柔软且小，有男性乳房发育和青光眼。精液分析显示无精子症。血清促性腺激素水平升高，抗苗勒管激素（AMH）和抑制素B水平降低。染色体分析显示核型为46, XX。荧光原位杂交（FISH）和聚合酶链反应（PCR）显示存在Y染色体性别决定区（SRY）。睾丸细针穿刺细胞学检查（FNAC）显示为唯支持细胞综合征（SCOS）。据我们所知，XX男性综合征患者睾丸中仅存在支持细胞且伴有青光眼的情况在文献中尚未见报道。
