以无鼻畸形为表现的低促性腺激素性性腺功能减退：一例报告
Hypogonadotropic hypogonadism presenting with arhinia: a case report.
作者信息
Tryggestad Jeanie B, Li Shibo, Chernausek Steven D
机构信息
Department of Pediatrics, Section of Diabetes and Endocrinology, 1200 Children's Way, Suite 4500, Oklahoma City, OK 73104, USA.
出版信息
J Med Case Rep. 2013 Feb 22;7:52. doi: 10.1186/1752-1947-7-52.
INTRODUCTION
Arhinia, 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 PRESENTATION
A 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.
CONCLUSION
No 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.
引言
先天性无鼻是一种罕见的畸形。我们报告了第三例伴有性腺功能减退的先天性无鼻病例，并证明这是由于促性腺激素缺乏所致。
病例介绍
一名13岁患有先天性无鼻的白人男孩因青春期发育延迟和小阴茎前来评估。我们检测了已知与低促性腺激素性性腺功能减退相关的基因是否存在突变，并进行了染色体微阵列分析以评估拷贝数变异。
结论
在我们的患者中未发现KAL1、FGFR1、PROK2、PROKR2、FGF8、CHD7和GnRHR基因存在突变，也未观察到可解释该表型的拷贝数变异。尽管对此类患者的研究有限，但我们认为低促性腺激素性性腺功能减退与先天性无鼻有关，这两种情况可能由影响早期鼻发育以及促性腺激素释放激素神经元形成或迁移的共同遗传原因导致。
Zotero 插件