Endocrinology, Gandhi Medical College and Hospital, Secunderabad, Telangana, India
Endocrinology, Gandhi Medical College and Hospital, Secunderabad, Telangana, India.
BMJ Case Rep. 2020 Oct 29;13(10):e235238. doi: 10.1136/bcr-2020-235238.
We report a case of a 5-year-old boy presenting to us with short stature. He was born of consanguineous parentage and was small for gestational age. He had severe short stature, with height Z score of -6.2 SD Score, markedly delayed skeletal age, low level of insulin-like growth factor 1, unstimulated growth hormone and hypoplastic anterior pituitary gland on MRI. He was advised growth hormone (GH) replacement at 2 years of age, but he did not receive it . Later on, he developed photosensitive telangiectatic lesions over face and required multiple hospital admissions for recurrent systemic infections. Genetic analysis confirmed the diagnosis of Bloom's syndrome. The present case report illustrates the need for high vigilance for conditions like Bloom's syndrome in growth hormone deficiency (GHD), in whom GH treatment could potentially be harmful. Bloom's syndrome with GHD is an exceedingly rare association.
我们报告了一例 5 岁男孩因身材矮小就诊。他出生于近亲家庭，且为小于胎龄儿。他身材矮小，身高 Z 评分-6.2，骨骼年龄明显延迟，胰岛素样生长因子 1 水平低，MRI 显示垂体前叶发育不良。他在 2 岁时被建议接受生长激素（GH）替代治疗，但并未接受。后来，他面部出现光敏性毛细血管扩张性皮损，需要多次住院治疗反复发生的全身感染。基因分析确诊为布卢姆综合征。本病例报告说明了在生长激素缺乏症（GHD）中对布卢姆综合征等疾病保持高度警惕的必要性，因为 GH 治疗可能有害。Bloom 综合征合并 GHD 极为罕见。
