Fibrous mastopathy: clinical, imaging, and histopathologic findings of 31 cases.

AIM: The aim of this study was to analyze the cases of patients with a histological diagnosis of fibrous mastopathy, diabetic mastopathy, or lymphocytic mastopathy in association with other autoimmune diseases, and to conduct histological and imaging studies as well as follow up of the lesions. METHODS: Thirty-one patients meeting predetermined histopathological criteria for diabetic mastopathy, fibrous mastopathy, or lymphocytic mastopathy were analyzed for several factors: age at diagnosis; clinical manifestations; parity; breastfeeding; use of sex steroids for hormonal replacement therapy or hormonal contraception; associated diseases; mammographic findings; breast magnetic resonance imaging and ultrasound; histological and cytological diagnosis; immunohistochemical and immunophenotyping identification of T- and B-lymphocytes and macrophages, and alpha-smooth muscle actin; and follow up. RESULTS: Fibrous mastopathy was present among diabetic and non-diabetic patients, patients with autoimmune diseases, and healthy individuals. Relapses were found in one-quarter of the lesions and spontaneous regression was observed in one case. There was a predominance of T-lymphocytes over B-lymphocytes in the fibrous mastopathic lesions (P < 0.001). Macrophages were demonstrated in 95.2% of the lesions. All of the lesions displayed reactivity for alpha-smooth muscle actin, a characteristic of myofibroblasts. CONCLUSIONS: Fibrous mastopathy does not occur in diabetic patients only; fibrous mastopathy may also occur in healthy subjects; the lesion is characterized by a higher number of T-lymphocytes over B-lymphocytes, the presence of absolute lobular lymphocytic infiltrate, reactivity for alpha-smooth muscle actin, and macrophages. Relapses were found in one-quarter of the lesions and spontaneous regression was observed in one case.

Effects of follicle-stimulating hormone and human chorionic gonadotropin on gonadal steroidogenesis in two siblings with a follicle-stimulating hormone beta subunit mutation.

OBJECTIVE: To quantify gonadal steroid responses to different gonadotropin regimens. DESIGN: Transversal clinical study. SETTING: Academic medical center. PATIENT(S): A 41-year-old woman and her 37-year-old brother with isolated FSH deficiency due to a homozygous Tyr76X FSH beta subunit gene (FSHB) mutation. INTERVENTION(S): Initially, serial LH samples were drawn overnight. After 2-day dexamethasone suppression, steroids were measured at baseline and after hCG, recombinant FSH, or hCG + recombinant FSH administration. MAIN OUTCOME MEASURE(S): Pulse number, peak amplitude, and mean overnight LH levels, as well as basal and stimulated FSH, LH, T, E(2), DHEAS, 17alpha-hydroxyprogesterone (17-OHP), and androstenedione (A). RESULT(S): The mean +/-SD overnight LH was 49.2 +/- 5.7 mIU/mL and 9.1 +/- 2.9 mIU/mL; there were 8 pulses/8 hours and 9 pulses/9 hours, with mean amplitudes of 53.4 +/- 6.5 mIU/mL and 11.7 +/- 1.9 mIU/mL, for the woman and man, respectively. There was no steroid response to recombinant FSH, hCG, or hCG + recombinant FSH in the woman. In the man, T increased after hCG, recombinant FSH, and hCG + recombinant FSH, whereas E(2), A, and 17-OHP increased only after hCG + recombinant FSH. CONCLUSION(S): This report constitutes the first detailed endocrine study of a man with isolated FSH deficiency due to an FSHB mutation and suggests that FSH may have a positive regulatory effect on healthy LH-stimulated Leydig cells, probably mediated by its primary action on Sertoli cells, in a paracrine mechanism.