title: Impaired gonadal function in a woman with multiple symmetric lipomatosis.
abstract: 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.
authors.affiliation: Department of Clinical and Experimental Medicine, Federico II University, 80131 Naples, Italy. domenico.rendina@unina.it
authors.forename: D
authors.initials: D
authors.lastname: Rendina
authors.forename: G
authors.initials: G
authors.lastname: De Filippo
authors.forename: A
authors.initials: A
authors.lastname: Nazzaro
authors.forename: P
authors.initials: P
authors.lastname: Strazzullo
mesh_terms: D000305:Adrenal Cortex Hormones / Q000097:blood; D000328:Adult; D000568:Amenorrhea / Q000209:etiology; D003907:Dexamethasone; D005260:Female; D012739:Gonadal Steroid Hormones / Q000097:blood; D006801:Humans; D008069:Lipomatosis, Multiple Symmetrical / Q000097:blood / Q000503:physiopathology*; D008598:Menstruation / Q000187:drug effects; D010053:Ovary / Q000503:physiopathology*; D011374:Progesterone
chemical_list: D000305:Adrenal Cortex Hormones; D012739:Gonadal Steroid Hormones; D011374:Progesterone; D003907:Dexamethasone