一个家族中两个罕见病例的首次报告：49,XXXXY和45,X。
First Report of Two Rare Entities in a Family: 49,XXXXY and 45,X.
作者信息
Şahin Yavuz, Özcan Aysegül
机构信息
Department of Medical Genetics, Necip Fazıl City Hospital, Kahramanmaras, Turkey.
Department of Medical Genetics, Faculty of Medicine, Yuzuncu Yil University, Van, Turkey.
出版信息
J Pediatr Genet. 2017 Sep;6(3):174-176. doi: 10.1055/s-0037-1598027. Epub 2017 Jan 18.
49,XXXXY and 45,X syndromes are sex chromosome aneuploidies in which the affected individuals present with hypergonadotropic hypogonadism, short or long stature, and skeletal malformations. Psychological, endocrinological, and orthopaedic disorders constitute the major problems in the clinical follow-up. We report a family with two rare entities: 49,XXXXY and 45, X. Sex chromosome abnormalities should especially be in mind in the evaluation of patients with micropenis, mental retardation, and hypergonadotropic hypogonadism. Management mandates a multidisciplinary approach with pediatric endocrinology, pediatric surgery, orthopaedics, psychiatry, and clinical genetic evaluations. To our knowledge, our cases are the first to report the sibling patients with 49,XXXXY and 45,X.
49,XXXXY和45,X综合征是性染色体非整倍体疾病，受影响个体表现为高促性腺激素性性腺功能减退、身材矮小或高大以及骨骼畸形。心理、内分泌和骨科疾病是临床随访中的主要问题。我们报告了一个患有两种罕见疾病的家庭：49,XXXXY和45,X。在评估小阴茎、智力发育迟缓及高促性腺激素性性腺功能减退患者时，应特别考虑性染色体异常。治疗需要多学科方法，包括儿科内分泌学、儿科外科、骨科、精神病学和临床遗传学评估。据我们所知，我们的病例是首例报告的患有49,XXXXY和45,X的同胞患者。
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