Department of Medicine, Aga Khan University Hospital, Karachi, Pakistan.
J Pak Med Assoc. 2023 Aug;73(8):1712-1715. doi: 10.47391/JPMA.6451.
The main factor determining differentiation of bipotential gonads into testes or ovaries is the presence or absence of SRY (sex-determining region on Y chromosome) gene. De la Chapelle syndrome is a chromosomal anomaly with chromosomal makeup of a female (46, XX) and phenotypic presentation of a male. Previously known as XX sex reversal, it is now called 46, XX testicular disorders of sexual development (DSD). Although rare, it presents as a major chromosomal anomaly, with SRY gene crossover proposed as an underlying aetiology in most patients. We report the case of a 25-year-old male who presented with infertility and was diagnosed with De 46, XX testicular DSD. He has a previous history of resected dysembryoplastic neuroepithelial tumour (DNT). The differential diagnosis of 46, XX DSD and possible association/coincidental finding of DNT have been discussed. Karyotyping should be a part of the workup for every patient who presents with infertility and has azoospermia and hypergonadotropic hypogonadism.
决定两性性腺向睾丸或卵巢分化的主要因素是是否存在 SRY（Y 染色体性别决定区）基因。德劳凯勒综合征是一种染色体异常，其染色体组成为女性（46,XX），表型为男性。以前称为 XX 性反转，现在称为 46,XX 睾丸性发育障碍（DSD）。尽管罕见，但它表现为一种主要的染色体异常，大多数患者的潜在病因是 SRY 基因交叉。我们报告了一例 25 岁男性，因不育就诊，被诊断为德劳凯勒 46,XX 睾丸 DSD。他有切除的胚胎性神经上皮肿瘤（DNT）的既往病史。讨论了 46,XX DSD 的鉴别诊断和 DNT 的可能关联/巧合发现。对于因无精子症和促性腺激素性性腺功能减退而不育的每位患者，均应进行核型分析。
