Department of Endocrinology and Metabolism Disease, Ministry of Health, Diskapi Y.B. Education and Research Hospital, Ankara, Turkey.
Gynecol Endocrinol. 2010 Jun;26(6):413-5. doi: 10.3109/09513591003632225.
46, XX male (de la Chapelle syndrome) is a rare syndrome with a frequency of 1 in 20,000-25,000 males. 46, XX males exist in different clinical categories with ambiguous genitalia or partially to fully mature male genitalia, in combination with complete or incomplete masculinisation. We herein report a case of SRY-negative XX male with complete masculinisation but with infertility, and co-existing with autoimmune thyroiditis. The patient had fully mature male genitalia with descended but small testes and no signs of undervirilisation. Peripheral blood culture for chromosome studies revealed 46 chromosomes with XX constitution. Repeat polymerase chain reaction analysis, using Y-specific sequence tagged sites analysing about 40 metaphases of genomic DNA, confirmed the absence of the Y chromosome, including any detectable SRY gene. We herein report a case of a man 46, XX male SRY with normal male phenotype and infertility. This case is the first reported case, co-existing with chronic autoimmune thyroiditis.
46, XX 男性（de la Chapelle 综合征）是一种罕见的综合征，发病率为每 20000-25000 名男性中有 1 例。46, XX 男性存在不同的临床类别，具有模糊的生殖器或部分至完全成熟的男性生殖器，伴有完全或不完全的男性化。我们在此报告一例 SRY 阴性 XX 男性，具有完全男性化但不育，并伴有自身免疫性甲状腺炎。患者具有完全成熟的男性生殖器，睾丸下降但较小，没有未成熟的迹象。外周血染色体研究显示 46 条染色体为 XX 核型。重复聚合酶链反应分析，使用 Y 特异性序列标记位点分析约 40 个中期基因组 DNA，证实了 Y 染色体缺失，包括任何可检测到的 SRY 基因。我们在此报告一例 46, XX 男性 SRY 男性，具有正常的男性表型和不育。该病例是首例伴有慢性自身免疫性甲状腺炎的报告病例。
