Mazza V, Ottolenghi C, Di Monte I, Baldassari F, Rivasi F, Volpe A, Forabosco A
Obstetric and Gynecology Unit, Department of Mother and Child, Modena and Reggio Emilia University, Modena, Italy.
Prenat Diagn. 2003 Sep;23(9):716-21. doi: 10.1002/pd.673.
We present a case of early prenatal diagnosis of recurrent 46,XY partial gonadal dysgenesis, by combining early genetic and sonographic evaluations.
The conceptus of a mother with a first child affected by 46,XY gonadal dysgenesis was sonographically evaluated at 21- and 23-mm BPD (12(+2) and 12(+6) LMP-based age) and the female genitalia were observed. Karyotype analyses was performed on amniotic fluid and it revealed a 46,XY complement without mosaicism. SRY was amplified by PCR for molecular analyses.
We observed a discordance between female phenotype detected at 21 and 23 mm of biparietal diameter (12(+2) and 12(+6) LMP-based age) and male karyotype. In the child and the fetus, seminiferous cords were not recognisable, whereas rare Leydig cells and no germ cells could be identified. Internal and external genitalia were sexually ambiguous in the child and feminized in the fetus.
This is the first case of early prenatal diagnosis of recurrent 46,XY partial gonadal dysgenesis and it points to the importance of combining early analyses of genetic sex with sonography in the management of anomalies of sexual development, with particular regard to syndromes for which the risk of recurrence is little understood.
我们通过结合早期基因和超声评估，展示了一例复发性46,XY部分性腺发育不全的早期产前诊断病例。
对一名第一个孩子患有46,XY性腺发育不全的母亲的胎儿，在双顶径为21毫米和23毫米时（基于末次月经年龄分别为12(+2)周和12(+6)周）进行超声评估，并观察女性生殖器。对羊水进行核型分析，结果显示为46,XY核型，无嵌合体。通过聚合酶链反应（PCR）扩增SRY进行分子分析。
我们观察到在双顶径为21毫米和23毫米时（基于末次月经年龄分别为12(+2)周和12(+6)周）检测到的女性表型与男性核型之间存在不一致。在患儿和胎儿中，未识别出生精索，而仅发现罕见的睾丸间质细胞，未发现生殖细胞。患儿的内外生殖器存在性别模糊，胎儿的生殖器则呈女性化。
这是复发性46,XY部分性腺发育不全早期产前诊断的首例病例，它指出了在性发育异常管理中，尤其是对于复发风险了解甚少的综合征，将早期遗传性别分析与超声检查相结合的重要性。
