Cases reported "Gynecomastia"

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1/22. Clonal karyotypic abnormalities in gynecomastia.

    gynecomastia is a benign condition that frequently occurs in the male breast gland; however, the cytogenetic data on this entity are very limited. To our knowledge, three cases have been reported in the literature, and the only one with an abnormal karyotype had a concomitant breast carcinoma. In this study we report clonal chromosomal alterations in a gynecomastia sample without any signs of adjacent malignant tissue. The nonrandom abnormalities observed were a deletion of 12p, monosomies of chromosomes 9, 17, 19, and 20, and the presence of a marker chromosome. Most of these alterations have been previously described in the literature in other breast lesions, including benign and malignant (male and female) tumors, indicating their recurrence and nonrandomness in abnormal processes of the mammary gland.
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2/22. Clinicopathological studies of a patient with adult T-cell leukemia and pseudogynecomasty.

    We present a rare case of adult T cell leukemia/lymphoma (ATL) in which leukemic T cells expressed CD4 and CD25 surface antigens and infiltrated mammary glands during clinical course of the disease. A 40-year-old male was admitted with long-standing skin lesions and leukocytosis. Peripheral blood lymphocytes were highly pleomorphic and presented CD2, CD4, CD25, CD38 membrane surface antigens. The patient proved to be seropositive for human T-cell lymphotropic virus type I (HTLV-I) antibodies. Monoclonal expansion of lymphoid cells integrated with HTLV-I genome was observed, and the diagnosis of ATL chronic type was made. He underwent a chemotherapy regimen, and skin lesions and leukocytosis improved markedly. He progressed with an indolent clinical course of ATL, when he was admitted with bilateral hyperplasia of breast, recurrent skin lesions, and leukocytosis. breast biopsy revealed bilateral gynecomasty, extensive leukemic infiltration of typical ATL cells in the mammary glands, and the presence of mammary epithelial cells productively infected with HTLV-I. This is the first report describing invasion of the mammary tissue with HTLV-I-transformed T-cells and HTLV-I-associated breast disease.
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3/22. Estrogen secreting adrenal adenocarcinoma in an 18-month-old boy: aromatase activity, protein expression, mRNA and utilization of gonadal type promoter.

    We examined clinical, endocrinological and molecular biological aspects of an estrogen-secreting adrenal carcinoma in an 18-month-old male to clarify the pathogenesis of this condition. An 18-month-old boy was referred for evaluation of progressive bilateral gynecomastia and appearance of pubic hair. The patient had elevated plasma estradiol (349 pg/ml) and testosterone (260 ng/dl) levels that completely suppressed FSH and LH levels, and was subsequently diagnosed with an adrenal tumor on the right side. After removal of a 300-g adenocarcinoma, gynecomastia regressed and essentially normal hormone levels were restored. aromatase activity in the tumor tissue determined by the 3H-water method was 71.0-104.4 pmol/min/mg protein. High levels of aromatase protein and mRNA in the tumor tissue were also demonstrated, while neither aromatase activity nor protein was detected in normal adrenal glands. To investigate the regulation of aromatase expression in the adrenal carcinoma, we examined the usage of alternate promoters responsible for aromatase gene transcription. In the present case, the amounts of aromatase mRNA utilizing gonadal types of exon 1c (1.3) and 1d (II) were significantly higher than those that using other exon 1s. This result suggested that the utilization of a gonadal-type exon 1 might be involved in the over-production of aromatase in estrogen-secreting adrenal carcinoma.
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4/22. Feminizing sertoli cell tumor associated with peutz-jeghers syndrome.

    peutz-jeghers syndrome (PJS) is an autosomal dominant disorder characterized by the association of mucocutaneous pigmentation and multiple gastrointestinal hamartomatous polyps and with an increased risk of developing gonadal sex tumors besides other malignancies. We describe a 7 1/2 year-old boy with PJS and bilateral gynecomastia. He has had buccal pigmentation since 1.5 years and had been operated for rectal polyp excision at 3.5 years. On physical examination, his height was at the 90th percentile, and his height age and bone age were 9 and 10 1/2 years, respectively. Increased melanotic buccal pigmentation of the lips and bilateral gynecomastia were noticed. Both of the testes were firm, non-tender and smooth on the surface, and each measured 8 ml. Hormonal measurements were all in the prepubertal range. testis ultrasonography showed bilateral hyperechogenic areas within the glands. When he was operated for invagination and an ileum segment full of polyps was resected, bilateral testicular biopsies were also performed. Histopathological evaluation of the testes revealed bilateral multicentric benign Sertoli cell tumors. The aromatase inhibitor testolactone was started to slow skeletal maturation. On the basis of this and previous reports, PJS associated with sex-cord tumors is increasingly recognized in males as well as in females.
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5/22. gynecomastia as a familial incomplete male pseudohermaphroditism type 1: a limited androgen resistance syndrome.

    Four postpubertal 46 XY male patients with an inherited form of bilateral gynecomastia were studied to delineate the nature of the disease. Normal serum FSH and moderately elevated serum LH with concomitantly increased circulating levels of testosterone (T) and estradiol (E2) were found persistently in all cases in blood samples drawn at frequent intervals. LRH pituitary stimulation resulted in an exaggerated LH response and a normal FSH response. Chronic administration of T-cyclopentylate failed to decrease serum LH levels. The peripheral conversion rate of androstenedione to estrone was within normal limits. All patients had low ejaculate volumes with relatively normal spermatozoa counts. Testicular biopsies revealed normal leydig cells and complete spermatogenesis. Urological examination disclosed that the prostate gland was extremely small. The breast tissue demonstrated the presence of tubular structures as well as the specific binding of [3H]T and [3H]dihydrotestosterone (DHT), which was inhibited by nonlabeled T, DHT, E2, and progesterone, but not by cortisol. The pedigree suggested a recessive X-linked inherited trait. A patient with a nonfamilial form of gynecomastia served as a control in all studies. These data were interpreted as demonstrating that this inherited type of gynecomastia represents the mildest expression of the androgen resistance syndromes and, therefore, belongs to the type 1 form of familial incomplete male pseudohermaphroditism.
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6/22. Estrogen excess associated with novel gain-of-function mutations affecting the aromatase gene.

    BACKGROUND: gynecomastia of prepubertal onset may result from increased estrogen owing to excessive aromatase activity in extraglandular tissues. A gene in chromosome 15q21.2 encodes aromatase, the key enzyme for estrogen biosynthesis. Several physiologic tissue-specific promoters regulate the expression of aromatase, giving rise to messenger rna (mRNA) species with an identical coding region but tissue-specific 5'-untranslated regions in placenta, gonads, brain, fat, and skin. methods: We studied skin, fat, and blood samples from a 36-year-old man, his 7-year-old son, and an unrelated 17-year-old boy with severe gynecomastia of prepubertal onset and hypogonadotropic hypogonadism caused by elevated estrogen levels. RESULTS: aromatase activity and mRNA levels in fat and skin and whole-body aromatization of androstenedione were severely elevated. Treatment with an aromatase inhibitor decreased serum estrogen levels and normalized gonadotropin and testosterone levels. The 5'-untranslated regions of aromatase mRNA contained the same sequence (FLJ) in the father and son and another sequence (TMOD3) in the unrelated boy; neither sequence was found in control subjects. These 5'-untranslated regions normally make up the first exons of two ubiquitously expressed genes clustered in chromosome 15q21.2-3 in the following order (from telomere to centromere): FLJ, TMOD3, and aromatase. The aromatase gene is normally transcribed in the direction opposite to that of TMOD3 and FLJ. Two distinct heterozygous inversions reversed the direction of the TMOD3 or FLJ promoter in the patients. CONCLUSIONS: Heterozygous inversions in chromosome 15q21.2-3, which caused the coding region of the aromatase gene to lie adjacent to constitutively active cryptic promoters that normally transcribe other genes, resulted in severe estrogen excess owing to the overexpression of aromatase in many tissues.
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7/22. Clinics in diagnostic imaging (88). Gynaecomastia of the right breast and carcinoma of the left breast.

    An 83-year-old man presented with a painless lump in his left breast for one year. Mammograms showed an ill-defined uncalcified high-density subareolar mass in the left breast and minimal fibroglandular density radiating beneath the nipple into the fatty tissue of the right breast. US showed an irregular, heterogeneously-hypoechoic mass with mild posterior transmission. The differential diagnosis of breast enlargement in men is discussed. Mammographical and US features of gynaecomastia and male breast carcinoma are presented.
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8/22. Infantile gynecomastia with bloody nipple discharge.

    gynecomastia and bloody nipple discharge are very rare in childhood. In this report, a case of infantile gynecomastia together with bloody nipple discharge is presented. A hemorrhagic discharge was expressible from the mammary gland. Endocrinologic findings were within the normal limits. Because of persisting bleeding, a subcutaneous mastectomy was performed. The specimen was reported as gynecomastia. This boy is the first reported prepubertal gynecomastia with bloody nipple discharge in the medical literature.
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9/22. Unilateral breast enlargement as a presenting feature of small cell carcinoma of the lung.

    breast enlargement associated with carcinoma of the lung is most commonly a paraneoplastic manifestation of non-small cell carcinoma. Hormonally mediated proliferation of the glandular component of the breast leads to unilateral or bilateral enlargement. This report describes a patient with small cell carcinoma of the lung who presented with unilateral breast enlargement related to superior vena cava obstruction.
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10/22. gynecomastia treatment with subareolar glandular pedicle. Discussion, 287.

    BACKGROUND: gynecomastia is enlargement of the male breast. Although treatment is not indicated in most cases, aesthetic reconstructive surgery is commonly performed for psychological reasons. The goals in surgical treatment are to restore the breast contour with minimal scar and to protect areolar anatomy and sensation. This clinical study investigates the results of the subareolar glandular pedicle technique, in which the pedicle is dissected 2 mm wider than the areola with a circumareolar incision and the breast tissue is excised en bloc. The technique differs from the classical circumareolar approach with its thinner pedicle and excision of the breast without leaving prepectoral tissue. methods: We operated on nine patients with grades 1 and 2 gynecomastia using the subareolar glandular pedicle. Exposure was excellent with the circumareolar incision. Neither hematoma nor seroma formation was seen in any of the patients. Partial areola necrosis, which caused suture separation, was the only early postoperative complication seen, and this in a patient who smoked heavily. patients were followed for at least 6 months. RESULTS: Eight patients achieved a good aesthetic contour of the chest, and one patient needed a contour revision for the residual mass because of a bulky pedicle. Circumareolar scars were satisfactory for all the patients, including the patient with partial areola necrosis. Circumareolar hyperpigmentation developed in one patient, and areola sensation was preserved in seven patients. CONCLUSIONS: The subareolar glandular pedicle is indicated for grades 1 and 2 gynecomastia. Circumareolar incision provides perfect exposure. The technique is reliable if the pedicle is dissected 2 mm wider than the areola and dissection under the pedicle is avoided. Postoperative circumareolar scarring is minimal and nipple-areola sensation is preserved in most cases. However, experience is needed to determine the pedicle girth because a wide pedicle leads to subareolar bulk, whereas a thin pedicle may cause partial areola necrosis.
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