Pepene C E, Coman I, Mihu D, Militaru M, Duncea I
Department of Endocrinology, University of Medicine and Pharmacy Cluj-Napoca, Romania.
Clin Exp Obstet Gynecol. 2008;35(4):299-300.
The 46, XX male syndrome (de la Chapelle syndrome or 46, XX testicular disorder of sex development) is a rare form of sex reversal with complex mechanisms leading to a large spectrum of clinical manifestations ranging from ambiguous genitalia in the newborn to normal male phenotype. Therefore, diagnosis is established either pre- or early postnatal, or in adult life due to male infertility. In some cases, subtle clinical signs during childhood and puberty may be overlooked. A 28-year-old married man presented with azoospermia without erectile dysfunction. Between 9-14 years he was examined for the small testes and under-masculinized external genitalia but the diagnosis was not further clarified. At presentation, hormonal laboratory evaluation revealed hypergonadotropic hypogonadism. Chromosome analysis showed a 46, XX karyotype and translocation of SRY (testis-determining factor) from chromosome Y to chromosome X was identified by fluorescence in situ hybridization (FISH). Despite early subtle clinical signs of abnormal sexual development in this new 46, XX male syndrome, medical investigations were triggered by infertility.
46,XX男性综合征（德拉查佩尔综合征或46,XX性发育睾丸疾病）是一种罕见的性反转形式，其机制复杂，可导致从新生儿生殖器模糊到正常男性表型的广泛临床表现。因此，诊断可在产前或产后早期确立，或在成年期因男性不育而确立。在某些情况下，儿童期和青春期的细微临床体征可能被忽视。一名28岁已婚男性因无精子症就诊，无勃起功能障碍。9至14岁期间，他因睾丸小和外生殖器男性化不足接受检查，但诊断未进一步明确。就诊时，激素实验室评估显示高促性腺激素性性腺功能减退。染色体分析显示核型为46,XX，荧光原位杂交（FISH）鉴定出Y染色体上的SRY（睾丸决定因子）易位至X染色体。尽管这名新诊断的46,XX男性综合征患者早期存在性发育异常的细微临床体征，但医疗检查是由不育引发的。
