Rendina D, De Filippo G, Nazzaro A, Strazzullo P
Department of Clinical and Experimental Medicine, Federico II University, 80131 Naples, Italy.
Minerva Endocrinol. 2013 Jun;38(2):211-5.
Multiple symmetric lipomatosis (MSL, OMIM 151800), is a rare disease characterised by the growth of uncapsulated masses of abnormal adipose tissue around the neck, shoulders or other parts of the trunk and typically associated with high ethanol intake. We describe the case of a 33 year-old woman with MSL and secondary amenorrhea. Despite the presence of an ovarian failure confirmed by undetectable serum levels of inhibin B and anti-Müllerian hormone, the patient had normal serum levels of estrone and gonadotropins coexisting with a biological adrenal hyperandrogenism. We suggest that the adrenal hyperandrogenism observed in our patient could be attributed to an impairment of the cytochrome p450 function, inducing a relative 21-hydroxylase deficiency/insufficiency, related to alcohol abuse and that the increased peripheral aromatization of androgens in estrogens lead to normal circulating levels of estrone. The result is the absence of gonadotropin elevation despite primary ovarian failure. The peculiar functional pattern of brown adipocytes in patients with MSL may contribute to this biological phenomenon with an additive effect related to alcohol consumption. Altogether, these data could help to better define the peculiar pituitary-gonadal profile observed in this rare syndrome and in some cases of women with heavy alcohol consumption.
多发性对称性脂肪瘤病（MSL，OMIM 151800）是一种罕见疾病，其特征为在颈部、肩部或躯干其他部位出现无包膜的异常脂肪组织团块生长，且通常与高乙醇摄入量有关。我们描述了一例患有MSL和继发性闭经的33岁女性病例。尽管血清中抑制素B和抗苗勒管激素水平检测不到证实存在卵巢功能衰竭，但该患者血清雌酮和促性腺激素水平正常，同时存在生物学上的肾上腺雄激素过多症。我们认为，在我们的患者中观察到的肾上腺雄激素过多症可能归因于细胞色素p450功能受损，导致相对的21-羟化酶缺乏/不足，这与酒精滥用有关，并且雄激素在外周转化为雌激素的增加导致雌酮循环水平正常。结果是尽管原发性卵巢功能衰竭，但促性腺激素并未升高。MSL患者棕色脂肪细胞的特殊功能模式可能会导致这种生物学现象，并与酒精消费产生叠加效应。总之，这些数据有助于更好地界定在这种罕见综合征以及某些重度饮酒女性中观察到的特殊垂体-性腺特征。
