Hypogonadotropic hypogonadism presenting with arhinia: a case report
Hypogonadotropic hypogonadism presenting with arhinia: a case report
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伴有阿鼻症的低促性腺激素性性腺功能减退症：病例报告
DOI：
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发表时间：
2013
影响因子：
1
通讯作者：
S. Chernausek
中科院分区：
文献类型：
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作者：
J. Tryggestad;Shibo Li;S. Chernausek
前言鼻畸形是一种罕见的先天性鼻缺失畸形。我们提出第三次报告的情况下，鼻伴随性腺功能减退症，并证明这是由于促性腺激素deficiency.Case presentationA 13岁的白人男孩先天性鼻提出评估青春期延迟和小阴茎。我们研究了已知与低促性腺激素性性腺功能减退症的突变基因，并进行了染色体微阵列，以评估拷贝数variation.ConclusionNo突变KAL 1，FGFR1，PROK2，PROKR2，FGF8，CHD7和GnRHR被确定在我们的病人，也没有观察到的拷贝数变异，将解释的表型。虽然对这类患者的研究有限，但我们认为低促性腺激素性性腺功能减退症与鼻畸形有关，这两种疾病可能是由共同的遗传原因引起的，影响早期鼻发育和促性腺激素释放激素神经元的形成或迁移。
IntroductionArhinia, congenital absence of the nose, is a rare malformation. We present the third reported case of arhinia accompanied by hypogonadism and demonstrate that this is due to gonadotropin deficiency.Case presentationA 13-year-old Caucasian boy with congenital arhinia presented for evaluation of delayed puberty and micropenis. We examined genes known to be associated with hypogonadotropic hypogonadism for mutations and performed a chromosomal microarray to assess copy number variation.ConclusionNo mutations in KAL1, FGFR1, PROK2, PROKR2, FGF8, CHD7 and GnRHR were identified in our patient and there were no copy number variations observed that would explain the phenotype. Though studies are limited in such patients, we suggest that hypogonadotropic hypogonadism is associated with arhinia and that the two entities likely result from a common genetic cause that affects early nasal development and gonadotropin-releasing hormone neuron formation or migration.
影响因子：
2.7
作者：
Schwarting, Gerald A.;Wierman, Margaret E.;Tobet, Stuart A.
通讯作者：
Tobet, Stuart A.
影响因子：
4.8
作者：
S. Seminara;William F. Crowley
通讯作者：
S. Seminara;William F. Crowley