范·怀克-格伦巴赫综合征与21三体综合征。
Van Wyk-Grumbach syndrome and trisomy 21.
作者信息
Rivera-Hernández Aleida, Madrigal-González Mónica Margarita, Espinosa-Peniche Rossana, Zurita-Cruz Jessie, Balcázar-Hernández Lourdes
机构信息
Pediatric Endocrinology Department, Hospital de Pediatría, UMAE CMN Siglo XXI, IMSS, Mexico City, Mexico.
Pediatric Department, UMAE IMSS Mérida, Mérida, Yucatán, Mexico.
出版信息
Proc (Bayl Univ Med Cent). 2022 Mar 24;35(4):569-571. doi: 10.1080/08998280.2022.2054048. eCollection 2022.
The Van Wyk-Grumbach syndrome (VWGS) is characterized by severe hypothyroidism, peripheral precocious puberty, delayed bone age, hyperestrogenism, prepubertal luteinizing hormone, and elevated follicle-stimulating hormone. Patients with Down syndrome have a high susceptibility and prevalence of thyroid disorders. However, the coexistence of VWGS and trisomy 21 is uncommon. We present a case of a 5-year-old Mexican girl with Down syndrome, severe autoimmune hypothyroidism, pituitary enlargement, hyperprolactinemia, peripheral precocious puberty, multiple ovarian cysts, and delayed bone age, with a clinical diagnosis of VWGS. The patient presented with a remission of these manifestations after treatment with levothyroxine. Patients with Down syndrome, precocious puberty, hyperestrogenism, prepuberal luteinizing hormone, high follicle-stimulating hormone, and delayed bone age should be evaluated with a thyroid profile due to the possibility of VWGS.
范怀克-格伦巴赫综合征（VWGS）的特征为严重甲状腺功能减退、外周性性早熟、骨龄延迟、高雌激素血症、青春期前促黄体生成素以及促卵泡生成素升高。唐氏综合征患者甲状腺疾病的易感性和患病率较高。然而，VWGS与21三体共存并不常见。我们报告一例5岁患有唐氏综合征的墨西哥女孩，伴有严重自身免疫性甲状腺功能减退、垂体增大、高催乳素血症、外周性性早熟、多个卵巢囊肿以及骨龄延迟，临床诊断为VWGS。该患者在接受左甲状腺素治疗后这些表现得到缓解。由于存在VWGS的可能性，对于患有唐氏综合征、性早熟、高雌激素血症、青春期前促黄体生成素、高促卵泡生成素以及骨龄延迟的患者，应进行甲状腺功能检查评估。
Zotero 插件