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首页> 外文期刊>Pediatric Reports >Three Japanese patients with congenital pituitary hormone deficiency and ophthalmological anomalies
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Three Japanese patients with congenital pituitary hormone deficiency and ophthalmological anomalies

机译：三名日本先天性垂体激素缺乏症和眼科异常患者

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The clinical phenotype of congenital pituitary hormone deficiency is variable and can be associated with a number of structural abnormalities of the central nervous system. We report three Japanese patients with congenital pituitary hormone deficiency and ophthalmological anomalies. Two of the patients initially showed strabismus and unilateral optic nerve hypoplasia. Thereafter, growth failure became evident, leading to the diagnosis of pituitary hormone deficiency. The other patient had severe congenital hypopituitarism with respiratory distress and hypoglycemia from the first day of life. In addition, he had prolonged jaundice and impaired liver function with bilateral optic nerve hypoplasia. Neuroimaging of the pituitary region in all three patients demonstrated a small anterior pituitary lobe and no pituitary stalk. Our findings indicate that clinical variability of congenital hypopituitarism must be considered. In a patient with ophthalmological symptoms, endocrine evaluation and neuroimaging of the CNS including the pituitary region should be considered.
机译：先天性垂体激素缺乏症的临床表型是可变的，并且可能与中枢神经系统的许多结构异常有关。我们报告了三名日本先天性垂体激素缺乏症和眼科异常患者。其中两名患者最初显示斜视和单侧视神经发育不全。此后，生长衰竭变得明显，导致垂体激素缺乏的诊断。另一例患者从出生第一天起就患有严重的先天性垂体功能低下，伴有呼吸窘迫和低血糖。此外，他还伴有双侧视神经发育不全，黄疸延长，肝功能受损。所有三例患者的垂体区神经影像学检查均显示垂体前叶小而无垂体柄。我们的发现表明，必须考虑先天性垂体功能低下的临床变异性。对于有眼科症状的患者，应考虑内分泌评估和CNS包括垂体区域的神经影像学检查。

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