Miyako Kenichi, Takemoto Megumi, Ihara Kenji, Kuromaru Ryuichi, Kohno Hitoshi, Hara Toshiro
Department of Endocrinology and Metabolism, Fukuoka Children's Hospital, Japan.
Endocr J. 2002 Feb;49(1):15-20. doi: 10.1507/endocrj.49.15.
We report a rare case of growth hormone and gonadotropin deficiency associated with dysmorphic features. A 16-year-old boy had left anophthalmia, microphallus, bilateral cryptorchidism, and mental retardation. His chromosomal karyotype was normal, 46, XY. Endocrinological studies revealed growth hormone and gonadotropin deficiency, attributed to hypothalamic dysfunction. Magnetic resonance imaging scan of the head showed a hypoplastic pituitary gland, decreased high intensity signals in the pituitary posterior lobe, absence of the left eye, and a hypoplastic left optic nerve with no abnormality of the pituitary stalk, corpus callosum, or septum pellucidum. Although not completely consistent with the features of septo-optic dysplasia (SOD), his condition was considered within the spectrum of SOD. Despite similarities to the Hesx1 knockout mouse, a model of human SOD, mutation analyses revealed no mutations or polymorphisms in coding regions of any exons or intron-exon boundaries of the HESX1 gene. Further genetic studies of this patient may improve understanding of molecular mechanisms involved in pituitary development.
我们报告了一例罕见的与畸形特征相关的生长激素和促性腺激素缺乏症病例。一名16岁男孩患有左眼无眼球、小阴茎、双侧隐睾症和智力障碍。他的染色体核型正常，为46，XY。内分泌学研究显示生长激素和促性腺激素缺乏，归因于下丘脑功能障碍。头部磁共振成像扫描显示垂体发育不全，垂体后叶高强度信号降低，左眼缺失，左侧视神经发育不全，垂体柄、胼胝体或透明隔无异常。尽管不完全符合视隔发育不良（SOD）的特征，但他的病情被认为在SOD范围内。尽管与人类SOD模型Hesx1基因敲除小鼠有相似之处，但突变分析显示HESX1基因的任何外显子编码区或内含子-外显子边界均无突变或多态性。对该患者进行进一步的遗传学研究可能会增进对垂体发育相关分子机制的理解。
