Abstract：
OBJECTIVE: Sturge-Weber syndrome (SWS) is a rare neurocutaneous disorder that is characterized by a segmental dermatomal facial port-wine stain birthmark and is frequently accompanied by ipsilateral brain and eye abnormalities. We present a case of a patient with SWS who exhibited hypogonadotropic hypogonadism, growth hormone (GH) deficiency, and central hypothyroidism at the age of 20 despite the absence of radiographic findings in the pituitary and hypothalamus.
METHODS: A 20-year-old male with SWS with epilepsy and Klippel-Trenaunay syndrome presents with delayed pubertal development, short stature, and obesity. Upon further examination, he was found to have biochemical and clinical evidence of hypogonadism, hypothyroidism, and GH deficiency. A pituitary MRI displayed no abnormalities of the pituitary or hypothalamus. Treatment with testosterone cypionate and levothyroxine was initiated. Despite successful pubertal induction, IGF-1 levels have remained low and treatment with recombinant human growth hormone (rhGH) is now being considered for metabolic benefits.
CONCLUSIONS: This case emphasizes the importance of endocrine evaluation and treatment of hormonal deficiencies in patients with SWS despite the absence of radiographic findings.
METHODS: A 20-year-old male with SWS with epilepsy and Klippel-Trenaunay syndrome presents with delayed pubertal development, short stature, and obesity. Upon further examination, he was found to have biochemical and clinical evidence of hypogonadism, hypothyroidism, and GH deficiency. A pituitary MRI displayed no abnormalities of the pituitary or hypothalamus. Treatment with testosterone cypionate and levothyroxine was initiated. Despite successful pubertal induction, IGF-1 levels have remained low and treatment with recombinant human growth hormone (rhGH) is now being considered for metabolic benefits.
CONCLUSIONS: This case emphasizes the importance of endocrine evaluation and treatment of hormonal deficiencies in patients with SWS despite the absence of radiographic findings.
摘要：
目的：Sturge-Weber综合征（SWS）是一种罕见的神经皮肤疾病，其特征是节段性皮肤区面部葡萄酒色斑胎记，并经常伴有同侧大脑和眼睛异常。我们介绍了一例SWS患者，其表现为低促性腺激素性腺功能减退，生长激素（GH）缺乏，尽管垂体和下丘脑没有影像学检查结果，但20岁时仍有中枢甲状腺功能减退症。
方法：一名20岁男性SWS伴癫痫和Klippel-Trenaunay综合征表现为青春期发育延迟，身材矮小,和肥胖。经进一步检查,他被发现有性腺功能减退的生化和临床证据，甲状腺功能减退,和GH缺乏。垂体MRI显示垂体或下丘脑未见异常。开始用睾酮环戊酸盐和左甲状腺素治疗。尽管青春期诱导成功，IGF-1水平仍然很低，现在正在考虑用重组人生长激素（rhGH）治疗代谢益处。
结论：本案例强调了对SWS患者进行内分泌评估和治疗激素缺乏的重要性，尽管没有影像学检查结果。
方法：一名20岁男性SWS伴癫痫和Klippel-Trenaunay综合征表现为青春期发育延迟，身材矮小,和肥胖。经进一步检查,他被发现有性腺功能减退的生化和临床证据，甲状腺功能减退,和GH缺乏。垂体MRI显示垂体或下丘脑未见异常。开始用睾酮环戊酸盐和左甲状腺素治疗。尽管青春期诱导成功，IGF-1水平仍然很低，现在正在考虑用重组人生长激素（rhGH）治疗代谢益处。
结论：本案例强调了对SWS患者进行内分泌评估和治疗激素缺乏的重要性，尽管没有影像学检查结果。
