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首页> 外文期刊>Neuromuscular disorders: NMD >Peripheral neuropathy and 46XY gonadal dysgenesis: a heterogeneous entity.
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Peripheral neuropathy and 46XY gonadal dysgenesis: a heterogeneous entity.

机译：周围神经病变和46XY性腺发育不全：异质性实体。

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摘要

Gonadal dysgenesis with normal male karyotype (46XY) is a sexual differentiation disorder. So far three patients have been reported presenting the association of 46XY gonadal dysgenesis with peripheral neuropathy. Examination of sural nerves revealed minifascicle formation in two of them. In one patient, a mutation was found in desert hedgehog homolog (Drosophila), a gene important in gonadal differentiation and peripheral nerve development. We studied neuropathological and molecular genetic aspects of a patient with 46XY gonadal dysgenesis and peripheral neuropathy. Examination of a sural nerve biopsy specimen revealed an axonal neuropathy with pronounced axonal loss, limited signs of axonal regeneration and no minifascicle formation. A normal male karyotype was found (46XY) without micro-deletions in the Y chromosome. No mutations were found in the sex determining region Y gene, peripheral myelin protein 22, Myelin Protein Zero, Gap-Junction protein Beta 1, Mitofusin 2 or desert hedgehog homolog. Theabsence of minifascicle formation and the absence of a mutation in desert hedgehog homolog in this patient with gonadal dysgenesis and peripheral neuropathy expand the clinical and genetic heterogeneity of this rare entity.
机译：具有正常男性核型（46XY）的性腺发育不全是一种性分化疾病。迄今为止，已经报道了三名患者表现出46XY性腺发育不全与周围神经病变的关系。腓肠神经的检查显示其中两个有小束神经形成。在一名患者中，在沙漠刺猬同源物（果蝇）中发现了一个突变，该突变对性腺分化和周围神经发育很重要。我们研究了46XY性腺发育不全和周围神经病患者的神经病理学和分子遗传学方面。腓肠神经活检标本的检查显示轴突神经病伴明显的轴突丢失，轴突再生的迹象有限且没有微束形成。发现正常的男性核型（46XY）在Y染色体上没有微缺失。在性别决定区Y基因，外周髓磷脂蛋白22，髓磷脂蛋白0，间隙连接蛋白Beta 1，线粒体融合蛋白2或沙漠刺猬同源物中未发现突变。具有性腺发育不全和周围神经病的患者缺乏微束形成和沙漠刺猬同源物中没有突变，扩大了这种罕见实体的临床和遗传异质性。

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