Case report on gynecomastia with ipsilateral recurrence of granulomatous lobular mastitis.

This study describes a rare case of male granulomatous lobular mastitis (GLM) with recurrence in different sites on the ipsilateral side. A 48-year-old male patient presented with no previous history of breast-related disease, and physical examination suggested a mass in the right breast. Ultrasonography revealed a cyst and infection in the right breast. No obvious abnormality was found in laboratory analysis, and a core needle biopsy revealed GLM. Incision and drainage were applied to the right lesion, and symptoms resolved within a few weeks. At 2 years following this initial presentation, the patient reported that the right breast mass reappeared in different locations after the consumption of alcohol. Relevant examination and a core needle biopsy again suggested GLM of the right breast. The patient declined hormone therapy and was subsequently lost to follow-up. After reviewing this case, the course of the disease in this patient, and the connection between gynecomastia and GLM, along with ipsilateral recurrence, are under investigation.

Local aromatase excess with recruitment of unusual promoters of CYP19A1 gene in prepubertal patients with gynecomastia.

OBJECTIVES: Gynecomastia may be due to aromatase excess in several diseases such as obesity and cancer. Aromatase excess syndrome (AEXS) is an autosomal dominant disorder caused by overexpression of CYP19A1. Germinal mutations occurring in AEXS include various genomic rearrangements including duplication, deletion, and inversion identified in the upstream region of CYP19A1. Aromatase overexpression caused by a CYP19A1 somatic mutation has been rarely described. METHODS: Breast adipose tissue biopsies or surgical specimens were obtained from 19 subjects with gynecomastia. Aromatase quantification was performed by digital PCR and CYP19A1 sequencing by RACE PCR products. RESULTS: We observed localized aromatase overexpression (>10 fold greater than normal) in breast adipose tissue from three prepubertal males with gynecomastia out of the 19 cases. One carried a chromosomal rearrangement between CYP19A1 and DMXL2, consistent with AEXS. In the 2 others, the first exon of CYP19A1 contained 11 different tissue-specific promoter subtypes, specifically I.4 or I.3 normally expressed by adipose tissue, but also the placental I.2 promoter and the more ubiquitous I.7 which is usually expressed in breast cancer, uterine, and endothelial tissues. No differences in clinical or biochemical characteristics were observed between these 3 subjects and 16 others without aromatase overexpression. CONCLUSIONS: We describe two cases of aromatase overexpression in breast adipose tissue associated with nonspecific promoter recruitment. Further investigations are necessary to understand the mechanisms involved in aberrant promoter selection.

The role of steroid receptors, peptides and growth factors in the aetiopathogenesis of idiopathic gynecomastia.

Idiopathic gynecomastia is a diagnosis of exclusion. We aimed to evaluate the role of steroids, peptides and growth factors in these patients. Those with bilateral idiopathic gynecomastia (n = 29) (Simon's grade IIb or III) who underwent gland excision were evaluated by immunohistochemical techniques using semi-quantitative grading for oestrogen receptor (ER), progesterone receptor (PR), aromatase, androgen receptor (AR), peptides (IGF-1, IGF-2, HER-2, parathyroid-hormone related peptide [PTHrP]) and growth factors (EGFR, TGFß). The cohort comprised 29 patients, with a mean age of 25.3 ± 5.1 years and a mean body mass index of 27.2 ± 2.3 kg/m2 . Grade IIb gynecomastia was present in 79.1% and moderate-to-severe insulin resistance (HOMA-IR >3) in 53.7% of patients. ER expression was positive in 100% samples, followed by AR (96.5%), aromatase (96.5%) and PR (93.1%). IGF-1 was expressed in 86.2% of the cohort, IGF2 in 27.5% and HER-2 in only two samples, with both showing weak immunoexpression. None of the patients had positive expression of EGFR, TGF-ß or PTHrP. There was no association between immunoexpression and gynecomastia grade. This study demonstrates the predominant role of oestrogen, aromatase and insulin resistance in the aetiopathogenesis of idiopathic gynecomastia and implicates the paracrine hyperestrogenic milieu in its causation as circulating hormones were normal.

[Gynaecomastia and adipomastia on black skin: Clinical and surgical particularity]. / Gynécomastie et adipomastie sur peau noire : particularités clinique et chirurgicale.

AIM: Analyze the management of gynecomastia and adipomastia; and identify the peculiarities in black people in a general surgery department of the CHU Sylvanus Olympio in Lomé (Togo). PATIENT AND METHOD: Descriptive retrospective study included 43 cases of gynecomastia and 5 cases of adipomastia (January 2014 to December 2020). The data taken into account were: epidemiological, clinical, paraclinical and the treatment (surgery and medical). The administration of hydrocortisone (solumedrol 120mg/day) for 3days immediately after surgery and the application of shea butter on the scar were performed. RESULT: Patients consult for aesthetic discomfort, especially with bilateral lesions and fear of breast cancer for unilateral lesions. Morpho-types 3 and 4 are therefore the most frequent in 75% of cases. Age was over 30years in 87% of patients. We noted retro-areolar fibrosis. The etiology was dominated by idiopathic causes. The surgery was performed in 85% of the cases. The morbidities were 5 cases of hypertrophic scars without keloid. CONCLUSION: Surgical difficulties on black skin are not only technical, but also scarring: hypertrophy and keloids. A delay in surgical management after 30years, and the prevention of unsightly scars would be a track for improving the aesthetic result.

Benign cyst of the male breast. An exceedingly rare entity that may pose a diagnostic dilemma. Management and literature review.

Cysts represent the most common cause of a breast mass in women. On the contrary, in men, the presence of a benign apocrine cyst is an exceedingly rare occurrence, with only a few cases reported in the literature. We describe herein a case of benign apocrine breast cyst without concurrent gynecomastia in a 41-year-old male. Diagnostic evaluation and management are discussed, along with a review of the literature. Given the extreme rarity of benign breast cysts in males, a thorough investigation is essential in male patients presenting with cystic breast lesions. Diagnostic breast imaging may be challenging. Surgical resection of the cyst should be considered in the presence of atypical imaging features to exclude underlying malignancy.

Flaxseed oil stimulates gynecomastia.

Flaxseed oil contains lignans, which exhibit anti-inflammatory and antiatherogenic activities. A 70-year-old male patient presented to our office due to hyperlipidaemia and started to take a tablespoon of flaxseed oil daily. Three months later, he reported left breast swelling and pain. Although the echogram revealed a tumour in the left mammary gland, the breast biopsy was compatible with gynecomastia, showing ductal hyperplasia without evidence of malignancy. His breast epithelia were oestrogen receptor-positive. Potential role of phytoestrogens was discussed.

Isoniazid-induced gynaecomastia: report of a paediatric case and review of literature.

BACKGROUND: Gynaecomastia is a fairly common condition in puberty but is rare in prepubertal boys. While it is necessary to exclude possible endocrinopathay in prepubertal gynaecomastia, medication is an important and potentially reversible cause to consider in new onset gynaecomastia. Isoniazid-induced gynaecomastia has been reported in adult males, but none was reported in the paediatric population and general paediatricians may not be aware of this uncommon side effect. CASE PRESENTATION: We hereby report a 11-year-old prepubertal boy who developed gynaecomastia while taking anti-tuberculosis drugs. Investigations excluded endocrinopathies. Gynaecomastia subsided 8 weeks after stopping isoniazid. CONCLUSION: This case is the first paediatric case report describing the association of gynaecomastia with isoniazid use. It is important for general paediatricians to recognize this entity, as prompt diagnosis and cessation of the offending drug can lead to resolution of the problem.

Ginecomastia bilateral secundaria a plasmocitoma extramedular / Bilateral gynecomastia secundary to extramedular plasmocytoma

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Sex Hormone Profile in Pubertal Boys With Gynecomastia and Pseudogynecomastia.

CONTENT: Gynecomastia (defined by proliferation of glandular elements) and pseudogynecomastia (defined by adipose tissue) are frequent in pubertal boys. An association with sex hormones and the growth hormone axis has been discussed. OBJECTIVE: The objective of this work is to compare sex hormones, insulin-like growth factor 1 (IGF-1), and insulin-like growth factor binding protein 3 (IGFBP-3) between boys with gynecomastia and pseudogynecomastia (separation by ultrasound). DESIGN: An observational study was performed. SETTING: The setting of this study was an outpatient clinic. PARTICIPANTS: A total of 124 pubertal boys (mean age 14 ±â€…2 years) with breast enlargement and 84 healthy boys (mean age 14 ±â€…2 years) without breast enlargement participated in this study. INTERVENTIONS: No interventions were performed. MAIN OUTCOME MEASURES: Measurements were taken for sex hormones (progesterone, estradiol [E2], estriol, estrone, androstendione, testosterone [T], dihydrotestosterone) measured by liquid chromatography-tandem mass spectrometry, as well as gonadotropins, prolactin, IGF-1, and IGFBP-3. RESULTS: Eighty-six boys suffered from gynecomastia and 38 from pseudogynecomastia. In boys with gynecomastia, the E2/T ratio (median 22, interquartile range [IQR] 8-75) was significantly (P < .05) higher compared to boys with pseudogynecomastia (median 12, IQR 5-21) or healthy controls without breast enlargement (median 18, IQR 6-44) even after adjustment for testes volume. T concentrations were significantly (P < .05) lower in boys with gynecomastia (median 1.8, IQR 0.7-4.2 nM/L) compared to boys with pseudogynecomastia (median 4.3, IQR 1.4-6.9 nM/L) or healthy controls without breast enlargement (median 3.1, IQR 0.6-7.6 nM/L). Boys with gynecomastia did not differ from boys with pseudogynecomastia according to other sex hormones, prolactin, IGF-1, or IGFBP-3 concentrations. CONCLUSIONS: True gynecomastia is characterized by a relative T deficiency to E2 concentrations in contrast to pseudogynecomastia.

Trends in Imaging Workup of the Male Breast: Experience from a Single Center.

BACKGROUND: Male breast cancer (MBC) is a rare disease representing less than 1% of breast cancers. In the absence of a screening program, such as for females, the diagnostic workup is critical for early detection of MBC. OBJECTIVES: To summarize our institutional experience in the workup of male patients referred for breast imaging, emphasizing the clinical, imaging, and histopathological characteristics of the MBC cohort. METHODS: All male patients who underwent breast imaging between 2011 and 2016 in our institution were retrospectively reviewed. Clinical, radiological, and histopathological data were collected and statistically evaluated. All images were reviewed using the American College of Radiology Breast Imaging Reporting and Data System. RESULTS: 178 male patients (average age 61 years, median age 64), underwent breast imaging in our institution. The most common indication for referral was palpable mass (49%) followed by gynecomastia (16%). Imaging included mostly mammography or ultrasound. Biopsies were performed on 56 patients, 38 (68%) were benign and 18 (32%) were malignant. In all, 13 patients had primary breast cancer and 5 had metastatic disease to the breast. Palpable mass at presentation was strongly associated with malignancy (P = 0.007). CONCLUSIONS: Mammography and ultrasound remain the leading modalities in breast imaging among males for diagnostic workup of palpable mass, with gynecomastia being the predominant diagnosis. However, presentation with palpable mass was also associated with malignancy. Despite a notable MBC rate in our cohort, the likelihood of cancer is low in young patients and in cases of gynecomastia.

Idiopathic prepubertal unilateral gynecomastia: Case report and literature review.

RATIONALE: Prepubertal unilateral gynecomastia is extremely rare, whose etiology and management strategy are not familiar. We would like to present a case and a literature review of unilateral prepubertal gynecomastia. PATIENT CONCERNS: A 11-year old male patient with complaints of unilateral enlargement of breast tissue presented in our clinic, whose physical examination, biochemical, hormonal and oncologic findings were normal. DIAGNOSES: This patient was diagnosed as idiopathic unilateral prepubertal gynecomastia (IUPG) and self-abasement, social isolation and sensitive of interpersonal relationship. INTERVENTIONS: The patient received subcutaneous mastectomy. Histopathological examinations showed idiopathic gynecomastia of ductal epithelial hyperplasia and active interstitial fibrous hyperplasia, with no evidence of any pathological finding. Immunohistochemical examination showed estrogen receptor (ER)-α positive (70%), epidermal growth factor receptor (EGFR) positive, Her-2 positive (1+), Progesterone Receptor (PR) positive (80%). OUTCOMES: A remarkable improvement was observed both in the physical and mental conditions at the post-surgical 6-month follow-up visit, showing no evidence of recurrence. LESSONS: Further investigation is needed to clarify the pathogenesis of IUPG. All patients with IUPG should have a full endocrine and oncologic evaluation, and surgical excision may be the individually designed for each patient with the help of MRI of breast.

Influence of Postoperative Finasteride Therapy on Recurrence of Gynecomastia After Mastectomy in Men Taking Finasteride for Alopecia.

Finasteride is commonly used for treatment of alopecia. Because finasteride is a cause of gynecomastia, there is concern regarding the continuation of finasteride therapy after mastectomy. No studies have been performed to determine whether finasteride should be continued after mastectomy when gynecomastia occurs in patients taking finasteride for the treatment of alopecia. The researchers studied the effects of finasteride on gynecomastia recurrence after mastectomy in men with gynecomastia taking finasteride for alopecia. The researchers retrospectively evaluated 1,673 patients with gynecomastia who underwent subcutaneous mastectomy with liposuction at Damsoyu Hospital from January 2014 to December 2016. In total, 52 of the patients were taking finasteride for alopecia before surgery and continued to use it in the same manner after mastectomy. Ultrasonography was performed 1 year after mastectomy. The patients' median age was 26.5 (24.75-30) years. All 52 patients had bilateral gynecomastia. The median duration of finasteride therapy before and after surgery was 12 (5-25.75) and 33 (27.5-40.5) months, respectively. There were no statistically significant differences between the groups with and without the use of finasteride in relation to postoperative complications and recurrence rates. Taking finasteride seems to have little effect on recurrence in patients with alopecia who have undergone surgical treatment of gynecomastia. Surgeons may recommend continuous finasteride therapy in patients with alopecia who wish to take finasteride after mastectomy.

Analysis of Data From Breast Diseases Treated With 5-Alpha Reductase Inhibitors for Benign Prostatic Hyperplasia.

OBJECTIVE: 5-alpha reductase inhibitors (5ARIs) decrease the androgen levels in vivo and are currently used for the treatment of benign prostatic hyperplasia (BPH) in men. However, these inhibitors can also increase the risk of gynecomastia, breast tenderness, and breast cancer. Hence, we did a systematic review and meta-analysis to evaluate the rate of breast-related diseases in men treated with 5ARIs. MATERIALS AND METHODS: PubMed, Embase, Cochrane, and CNKI databases were searched for randomized controlled trials using 5ARIs in patients with BPH. Data were analyzed by using Cochrane Collaboration review manager program and Stata 12.0 software. RESULTS: In total, 14 studies were included in the meta-analysis. Gynecomastia was significantly more common with 5ARIs treatment when compared with placebo (3.30% vs. 1.84%; P < .00001) or alpha blockers (ABs) monotherapy (2.33% vs. 1.00%; P = .0009). Both dutasteride (2.03% vs. 0.90%; P < .00001) and finasteride (4.08% vs. 2.43%; P < .00001) are associated with significantly higher risk of gynecomastia than placebo. Risk for breast tenderness was elevated in 5ARIs users (0.83% vs. 0.25%; P = .01) or in users having combination therapy with ABs (2.48% vs. 0.58%; P < .0001). Finasteride is associated with significantly higher risk of breast tenderness than placebo (0.80% vs. 0.25%; P = .02). CONCLUSION: In male patients with BPH, 5ARIs have significantly increased the risk of gynecomastia and breast tenderness but may be not to the breast cancer. In addition, combination therapy is significantly associated with higher risk of breast tenderness compared to single ABs monotherapy.

Clinical and Biochemical Phenotype of Adolescent Males with Gynecomastia

Objective: Gynecomastia is defined as a benign proliferation of male breast glandular tissue. Its prevalence during puberty varies between 50-60% and is also common in neonatal and elderly males. It develops mainly due to the disequilibrium between estrogen and androgen activity in breast tissue, where estradiol (E2) binds to estrogen receptors and stimulates ductal and glandular cells. The aim of this work was to investigate the relationship between sex hormone alterations and the natural history of gynecomastia. Methods: Participants in this study were young males referred to an outpatient clinic, between January 2011 and February 2016, with breast enlargement. Thyroid function, liver function, hormone concentrations and tumor markers were measured and anthropometric assessment was conducted. Results: Subjects comprised 93 males, aged 9 to 18 (mean±standard deviation age 13.8±2.6) years. In 63 of 93 (67.7%) the gynecomastia was confirmed and 28 were followed-up for a median period of three months. None of the boys showed any reduction in breast size during follow-up. There was no correlation between body mass index Z-score and breast size. Breast enlargement progressed in nine boys (32.1%). A positive correlation between estrogen to testosterone (E2/TTE) ratio and Tanner B stage (r=0.47; p=0.034) was observed. Conclusion: The E2/TTE ratio may be a helpful tool in diagnosing gynecomastia. Altered E2/TTE ratio might be responsible for a proportion of cases described previously as idiopathic. Additionally, weight loss does not imply reduction of breast size in boys. Nonetheless it should be the first step in the management of prolonged gynecomastia.

Treatment of gynecomastia with prednisone: case report and literature review.

This study aimed to report a unique case of primary adrenal insufficiency that was accompanied by painful gynecomastia, which was resolved by treatment with prednisone. Enlargement of the left breast with continuous weakness and generalized nausea in a male was discovered 3 months before admission. Magnetic resonance imaging of the brain was normal 1 month before presentation. A physical examination revealed that the diameter of the left breast was 5 cm and the height was 3 cm. Laboratory investigations revealed hyponatremia, with a low serum cortisol level and an elevated prolactin level. Hyperprolactinemia was suspected because of adrenal deficiency that was directly or indirectly associated with increased prolactin levels. Thus, a diagnosis of hyperprolactinemia was confirmed. Ultrasonography of the left breast showed glandular tissue hyperplasia. In the present study, treating adrenal insufficiency with prednisone relieved both gynecomastia and hyponatremia. However, gynecomastia regression and hyponatremia resolution were observed when prednisone was stopped. Gynecomastia completely resolved by re-administering prednisone. Therefore, treating the underlying disease is essential so that prednisone can be given in a timely manner.

3D Mammometric Changes in the Treatment of Idiopathic Gynecomastia.

BACKGROUND: Three-dimensional surface imaging (3DSI) has shown promise for plastic surgeons to objectively assess changes in body contour and breast volume. OBJECTIVES: To assess the surgical outcome after bilateral subcutaneous mastectomy (BSM) and water jet-assisted liposuction (WAL) as treatment for idiopathic gynecomastia, using 3DSI to document changes regarding nipple-areolar complex (NAC) and breast volume. METHODS: Thirty male patients (Simon II A to B) receiving BSM and WAL were enrolled. Eight subjects received additional mastopexy and NAC reduction. Use of a Vectra 3D Imaging System® before and 6 months after surgery provided data regarding changes of NAC placement and NAC and breast dimensions. The sum volume of intraoperatively approximated lipoaspirate before and after centrifugation and mastectomy specimens quantified using water displacement were compared with 3D-assessed differences in volume. RESULTS: When compared to the NAC dimensions defined during surgery, patients receiving NAC reductions showed nonsignificant postoperative changes in NAC dimensions. Patients without additional mastopexy showed a significant (p < 0.001) vertical (15.7 ± 14.3%) and horizontal (17.1 ± 15.0%) reduction in NAC diameter. 3D volume changes (92.8 ± 26.4 mL) showed significant differences (p < 0.001) 6 months after surgery compared to the intraoperatively measured lipoaspirate before (182 ± 54.5 mL) and after (120 ± 34.6 mL) centrifugation. CONCLUSION: Although it is clear that patient satisfaction must remain the prime focus of surgical body contouring, 3DSI has proven valuable to objectively demonstrate both the anticipated outcome and further findings regarding treatment of idiopathic gynecomastia. LEVEL OF EVIDENCE IV: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

Atypical ductal hyperplasia in men with gynecomastia: what is their breast cancer risk?

PURPOSE: Atypical ductal hyperplasia (ADH) significantly increases the risk of breast cancer in women. However, little is known about the implications of ADH in men. METHODS: Review of 932 males with breast pathology was performed to identify cases of ADH. Patients were excluded if ADH was upgraded to cancer on excision, or if they had contralateral breast cancer. Cases were reviewed to determine whether any male with ADH developed breast cancer. RESULTS: Nineteen males were diagnosed with ADH from June 2003 to September 2018. All had gynecomastia. Surgical procedure was mastectomy in 8 patients and excision/reduction in 11. One patient had their nipple areola complex removed, and 1 required a free nipple graft. Median patient age at ADH diagnosis was 25 years (range 18-72 years). Of the 14 patients with bilateral gynecomastia, 10 had bilateral ADH and 4 had unilateral. Five cases of ADH were described as severe, bordering on ductal carcinoma in situ. No patient reported a family history of breast cancer. No patient took tamoxifen. At a mean follow-up of 75 months (range 4-185 months), no patient developed breast cancer. CONCLUSION: Our study is the first to provide follow-up information for males with ADH. With 6 years of mean follow-up, no male in our series has developed breast cancer. This suggests that either ADH in men does not pose the same risk as ADH in women or that surgical excision of symptomatic gynecomastia in men effectively reduces the risk of breast cancer.

Developmental disorders and malformations of the breast.

Developmental abnormalities and malformations of the breast are rare and encompass a variety of genetic, syndromic, acquired and sporadic conditions. Abnormalities in development may include irregularities in the nipple areolar complex and/or the underlying glandular tissue, resulting in under or overdevelopment of breasts. Age of presentation and clinical severity is dependent on the underlying biologic cause. Abnormalities may involve the entirety of unilateral or bilateral breasts, particularly in association with syndromic conditions or endocrine abnormalities. Disordered development may also be focal, resulting in tumor-like lesions such as hamartomas, pseudoangiomatous stromal hyperplasia and gynecomastia. In this review, we discuss the disorders of breast development including etiologies, clinical presentations and corresponding histopathologic features.

A Novel Homozygous CYP19A1 Gene Mutation: Aromatase Deficiency Mimicking Congenital Adrenal Hyperplasia in an Infant without Obvious Maternal Virilisation

Aromatase deficiency is a rare, autosomal recessive disorder in which affected patients fail to synthesize normal estrogen. Herein, we report a 46, XX patient born with virilised external genitalia. A novel homozygous mutation in the CYP19A1 gene, causing aromatase deficiency, was detected. A 30-day infant registered as a male was referred to pediatric endocrinology because of a uterus detected on ultrasonography. The infant was born at 23 gestational weeks by C-section because of preeclampsia and premature membrane rupture. The parents were consanginenous. There was no evidence of virilisation, such as acne, hirsutism, deep voice or clitoral enlargement in the maternal history. Physical examination of the infant revealed complete scrotal fusion and a single urogenital meatus, consistent with Prader stage-3. A standard dose adrenocorticotropic hormone (ACTH) test revealed an inadequate cortisol response and high 17-hydroxy progesterone levels, suggesting simple virilising congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. However, no mutation in the CYP21A2 gene was detected. At age 2.5 years the ACTH test was repeated, after suspension of hydrocortisone treatment for 48 hours, when resulting cortisol and androgen levels were normal. The patient was re-evaluated in terms of 46, XX disorders of sex development (DSD), especially with a suspicion of aromatase deficiency. A novel, homozygous, exon 6 deletion was identified in the CYP19A1 gene. Aromatase deficiency may be confused with CAH in the newborn period. In this case 46, XX DSD aromatase deficiency was present in the absence of a history of maternal virilisation or large and multicystic ovaries.