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Genotyping of congenital adrenal hyperplasia due to 21-hydroxylase deficiency presenting as male infertility: Case report and literature review

机译:21-羟化酶缺乏症引起的先天性肾上腺增生的基因分型表现为男性不育:病例报告和文献复习

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摘要

We describe here two infertile male patients who were referred to our hospital with azoospermia at the ages of 33 and 30 years, respectively. Hormonal examinations led to a diagnosis of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency in both patients. Genotyping revealed that the patients had a homozygous I172N and a heterozygous compound I172N/IVS2-13A/C>G mutation, respectively. Glucocorticoid replacement therapy succeeded in improving the seminal status of one patient, but not the other. For the latter patient and his wife, a pregnancy was achieved by testicular sperm extraction (TESE) and intracytoplasmic sperm injection (ICSI) following genetic counseling. It is important to investigate genotyping and to classify patients on the basis of genotypic information in order to arrive at better treatment strategies for male infertility; especially in counseling of TESE-ICSI.
机译:我们在这里描述了两名分别在33岁和30岁时被送入我院接受无精症治疗的不育男性患者。激素检查导致诊断为先天性肾上腺皮质增生(CAH)由于这两个患者中的21-羟化酶缺乏症。基因分型显示,患者分别具有纯合的I172N和杂合的化合物I172N / IVS2-13A / C> G突变。糖皮质激素替代疗法成功改善了一名患者的精浆状况,但未改善另一名患者的精浆状况。对于后一患者和他的妻子,在遗传咨询后通过睾丸精子提取(TESE)和胞浆内精子注射(ICSI)实现了妊娠。重要的是要调查基因分型并根据基因型信息对患者进行分类,以便为男性不育症找到更好的治疗策略。特别是在TESE-ICSI的咨询中。

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