Blanco J A, Martínez-Mora J, Granada M, Toran N, Isnard R M, Castellví A, Casasa J M
Servicio de Cirugía Pediátrica del H. Universitari, Germans Trias i Pujol de Badalona.
Cir Pediatr. 1997 Jan;10(1):34-7.
The Mixed Gonadal Dysgenesis represents the 7.6% of all our patients with intersexual states. We report 14 patients who present Mixed Gonadal Dysgenesis. We have studied: diagnosis age; external genitalia description; sex assigned in birth and if has changed; the karyotype; sex chromatine; hormonal study; genitography; internal genitalia and internal Mullerians ducts structures; gonadal histologycal study; surgical treatment and hormonal treatment. The results show that 50% of the cases presents a 46XY karyotype and the other 50% mosaicisme 45XO/46XY. The histological study is very distinctive. A vulvovagynoplasty and clitoroplasty was made in all the cases. Four patients must follow an hormonal treatment after reaching puberal age. Summing up, with patients having ambiguous genitalia we can suspect it consists of a Mixed Gonadal Dysgenesis. The diagnosis must be precocious. And this diagnosis will be based in an ambiguous genitalia, with a karyotype 46XY or 45XO/46XY, the persistence of the internal Müllerian duct structures, and the histological study with a dysgenetic testis. These patients should be raised as females because they can obtain a good morphological and functional development like a normal female.
混合型性腺发育不全占我们所有两性畸形患者的7.6%。我们报告了14例呈现混合型性腺发育不全的患者。我们研究了：诊断年龄；外生殖器描述；出生时指定的性别及其是否发生改变；核型；性染色质；激素研究；生殖器官造影；内生殖器和中肾管结构；性腺组织学研究；手术治疗和激素治疗。结果显示，50%的病例呈现46XY核型，另外50%为45XO/46XY嵌合体。组织学研究非常有特色。所有病例均进行了外阴阴道成形术和阴蒂成形术。4例患者在达到青春期年龄后必须接受激素治疗。总之，对于生殖器模糊的患者，我们可以怀疑其为混合型性腺发育不全。诊断必须尽早。而这一诊断将基于生殖器模糊、核型为46XY或45XO/46XY、中肾管结构持续存在以及伴有发育不全睾丸的组织学研究。这些患者应作为女性抚养，因为她们可以像正常女性一样获得良好的形态和功能发育。
