【摘 要】
：
Kallmann syndrome (KS) is a rare clinically and genetically heterogeneous disease which can cause virilizing disorder and male infertility.The KS case was firstly reported in 1983 in China.More than 1
【机 构】
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Foshan Maternal and Child Health Hospital Southern Medical University China
【出 处】
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2013第三届内分泌与代谢大会暨2013第二届糖尿病大会
论文部分内容阅读
Kallmann syndrome (KS) is a rare clinically and genetically heterogeneous disease which can cause virilizing disorder and male infertility.The KS case was firstly reported in 1983 in China.More than 186 KS cases have been reported since then.After proper treatment, patients with KS/IHH may achieve normal virilization and fertility.More and more genetic causes of KS/IHH will be found using genetic study.Gene mutations in KAL1, PROK2, PROKR2, FGFR1, FGF8, NELF and CHD7 have been associated with KS.From 2005, we began to record files of IHH patients and follow-up in out-patient department.Now we have filed 104 IHH patients including 59 Kallmann syndrome patients and 45 nIHH patients so far.MRI showed all KS patients had the absence or dysplasia of olfactory bulb, olfactory tract or sulcus.
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