PDF(Pubmed)
Abstract：
Down syndrome (DS) is associated with several endocrine disorders, including diabetes, obesity, and primary hypogonadism. Here, we present a man with DS who manifested with atypical hypogonadotropic hypogonadism and in whom weight loss resulted in the improvement of hypothalamic GH deficiency. A 27-year-old man with DS and severe obesity was admitted for hypoxia resulting from obesity hypoventilation syndrome. Laboratory tests showed normal levels of LH and FSH despite low testosterone and free testosterone levels. Moreover, thyroid stimulating hormone and prolactin levels were slightly elevated, although a euthyroid function was observed, and GH and IGF-1 levels were low. Endocrinological stimulation tests revealed hypogonadotropic hypogonadism and hypothalamic GH deficiency. Reduction in body weight by 35.3% resulted in the improvement of the IGF-1, thyroid stimulating hormone, and prolactin levels to the reference range, whereas the LH and FSH levels remained low, despite slight elevation. Levels of leptin, which suppresses the hypothalamus-gonadotroph-gonadal axis and upregulates thyrotropin-releasing hormone expression, decreased with weight loss. Furthermore, ghrelin, whose levels increase with weight loss, stimulates GH secretion. Thus, leptin and ghrelin could have contributed to the observed changes in the pituitary hormone profile after weight loss.
摘要：
唐氏综合症（DS）与几种内分泌紊乱有关，包括糖尿病,肥胖，和原发性性腺功能减退.这里,我们介绍了一名患有DS的男子，他表现为非典型的低促性腺激素性腺功能减退，体重减轻导致下丘脑GH缺乏症的改善。一名患有DS和严重肥胖的27岁男子因肥胖通气不足综合征导致缺氧而入院。尽管睾丸激素和游离睾丸激素水平较低，但实验室检查显示LH和FSH水平正常。此外，促甲状腺激素和催乳素水平略有升高，尽管观察到甲状腺功能正常，GH和IGF-1水平较低。内分泌刺激试验显示低促性腺激素性性腺功能减退和下丘脑GH缺乏。体重减轻35.3%导致IGF-1，促甲状腺激素，和催乳素水平达到参考范围，而LH和FSH水平仍然很低，尽管略有升高。瘦素水平,抑制下丘脑-促性腺激素-性腺轴并上调促甲状腺激素释放激素的表达，随着体重减轻而减少。此外，ghrelin,其水平随着体重减轻而增加，刺激GH分泌。因此，瘦素和生长素释放肽可能导致体重减轻后垂体激素谱的变化。
