与甲状腺功能减退相关的49,XXXXY性染色体五体综合征。病例报告。
Sex chromosome pentasomy 49,XXXXY connected with hypothyroidism. Case report.
作者信息
Wikiera Beata, Głab Ewa, Slezak Ryszard, Wójcik Elzbieta, Noczyńska Anna
机构信息
Department of Endocrinology and Diabetology for Children and Adolescents, Wroclaw Medical University, Wroclaw, Poland.
出版信息
Pediatr Endocrinol Diabetes Metab. 2009;15(2):125-7.
49,XXXXY syndrome is a very rare sex chromosomes polysomy, which is always connected with dysmorphic appearance, hypergonadothrophic hypogonadism and mental retardation. In this report we describe the clinical, biochemical, hormonal, radiological and developmental status of the patient with 49,XXXXY syndrome, referred to our department at the age of 12 months because of underdeveloped external genitalia. Subclinical hypothyroidism and severe scoliosis could further disturb his development.
49,XXXXY综合征是一种非常罕见的性染色体多体性疾病，常伴有畸形外观、高促性腺激素性性腺功能减退和智力发育迟缓。在本报告中，我们描述了一名患有49,XXXXY综合征患者的临床、生化、激素、放射学和发育状况。该患者因外生殖器发育不全于12个月大时转诊至我科。亚临床甲状腺功能减退和严重脊柱侧弯可能会进一步干扰他的发育。
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