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1.
BMJ Case Rep ; 17(3)2024 Mar 18.
Artigo em Inglês | MEDLINE | ID: mdl-38499353

RESUMO

Ductal carcinoma in situ is very rare in male patients, accounting for approximately 5%-7% of all male breast cancers. We present a case of a man in his early 70s who presented with bloody nipple discharge and gynaecomastia and was subsequently diagnosed with ductal carcinoma in situ (DCIS). We discuss his management with surgical resection and the consideration of adjuvant treatment. We also review the existing literature on the presentation, diagnosis and management of DCIS in men.


Assuntos
Neoplasias da Mama , Carcinoma in Situ , Carcinoma Ductal de Mama , Carcinoma Intraductal não Infiltrante , Ginecomastia , Derrame Papilar , Humanos , Masculino , Neoplasias da Mama/cirurgia , Carcinoma Ductal de Mama/patologia , Carcinoma Intraductal não Infiltrante/diagnóstico , Carcinoma Intraductal não Infiltrante/cirurgia , Mastectomia Segmentar , Doenças Raras/cirurgia , Idoso
2.
J Int Med Res ; 52(3): 3000605241232520, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38530023

RESUMO

Androgen insensitivity syndrome (AIS) is a rare disorder with X-linked recessive inheritance in 46 XY patients. The clinical manifestations vary between patients, especially regarding external genitalia development. Herein, the case of AIS in a 13-year-old male, who was born with hypospadias and presented to the hospital with gynaecomastia that had developed from 8 years of age, is reported. No micropenis, cryptorchidism or bifid scrotum were found. Testis volume was 12 ml on both sides. His testosterone and luteinizing hormone levels were normal compared with sex- and age-adjusted reference range. His bone age was approximately 13 years according to Greulich-Pyle assessment. Sequence analysis of the androgen receptor (AR) gene revealed a mutation (c.2041A>G) in exon 4, a novel mutation site in the AR gene. Prediction analysis suggested this to be a disease-causing variant. A milder clinical presentation and normal hormone levels in cases of partial AIS might differ from the usually reported signs and symptoms. A diagnosis of AIS should not be ignored in teenage patients who present with gynaecomastia and hypospadias, but normal hormone levels.


Assuntos
Síndrome de Resistência a Andrógenos , Ginecomastia , Hipospadia , Masculino , Adolescente , Humanos , Síndrome de Resistência a Andrógenos/diagnóstico , Síndrome de Resistência a Andrógenos/genética , Ginecomastia/diagnóstico , Ginecomastia/genética , Receptores Androgênicos/genética , Hipospadia/diagnóstico , Hipospadia/genética , Mutação , Testosterona
3.
Pediatr Surg Int ; 40(1): 92, 2024 Mar 27.
Artigo em Inglês | MEDLINE | ID: mdl-38536489

RESUMO

BACKGROUND: Despite being a common condition in puberty, only 5-10% of pubertal gynecomastia need surgical treatment. Here the authors present their experiences with infra-areolar subcutaneous mastectomy in the surgical treatment of adolescent gynecomastia. METHODS: The records of patients who underwent infra-areolar subcutaneous mastectomy for adolescent gynecomastia between January 2004 and December 2021 were reviewed retrospectively. The patients' demographic data, complaints and clinical presentation, physical examination, laboratory and radiological findings, surgical management, and postoperative follow-ups were evaluated. The patients were evaluated according to the localization of the gynecomastia (unilateral/bilateral) and according to the patients' body mass index (BMI) (normal/overweight). RESULTS: A total of 21 boys with a mean age of 15 ± 1.4 years were operated by the senior author and infra-areolar subcutaneous mastectomy by a semilunar incision was performed for adolescent gynecomastia. The mean duration of the complaint was 24.2 ± 10.9 months. Gynecomastia was bilateral in 15 (71.5%) and unilateral in 6 (28.5%) of the patients. Sixteen patients (76.2%) were normal weight, 5 (23.8%) were overweight. Chromosomal anomaly and hypogonadism were detected in two patients. Pseudoangiomatous stromal hyperplasia was detected in the pathology of one patient. The mean follow-up time was 2.7 ± 1 years, seroma developed in 2 patients at the early postoperative period. Their long-term follow-up was uneventful without complication. CONCLUSIONS: The results of infra-areolar subcutaneous mastectomy are very promising in pubertal gynecomastia due to good skin elasticity and without obesity in the adolescent age group. We believe that this method provides an almost invisible incision and a natural pectoral appearance for adolescent patients who have experienced serious emotional problems related to their body images.


Assuntos
Neoplasias da Mama , Ginecomastia , Mastectomia Subcutânea , Masculino , Adolescente , Humanos , Ginecomastia/cirurgia , Mastectomia Subcutânea/métodos , Estudos Retrospectivos , Sobrepeso , Mastectomia , Resultado do Tratamento
4.
Eur Rev Med Pharmacol Sci ; 28(2): 763-771, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38305618

RESUMO

OBJECTIVE: The aim of this study was to elucidate the external temporary skin plication (ETSP) technique in gynecomastia surgery and evaluate its role in mitigating complications and enhancing cosmetic outcomes. PATIENTS AND METHODS: This study was conducted on patients diagnosed with gynecomastia, explicitly falling under Rohrich Grades IIB and III, with dermal quality being a crucial determinant. Between September 2018 and November 2021, surgical interventions were performed on 96 qualifying patients by the senior author. The operative protocol consisted of ultrasonic and suction-assisted liposuction, supplemented by lateral periareolar piecemeal gland excision. Within the cohort, 42 patients were subjected to the novel ETSP technique. In contrast, the remaining 54 patients underwent standard treatment, serving as the control group for subsequent comparative assessment. RESULTS: One patient required revisions for contour irregularities, while partial nipple necrosis was observed in two patients but healed without surgical intervention. However, saucer-like deformity and total nipple necrosis were not observed in our series. The overall complication rate in our series was 19%, with 9.5% of cases requiring revision. In our control group, the overall complication rate in our series was found to be 22%, with 13% of cases requiring revision. CONCLUSIONS: ETSP provides a homogeneous spread of the excess skin and greatly reduces or eliminates the amount of skin fold formation. ETSP reduces the need for possible skin excision and reduces visible scars and incisions, and it helps improve the results of skin-protective surgeries that are widespread today.


Assuntos
Ginecomastia , Lipectomia , Mamoplastia , Masculino , Humanos , Ginecomastia/cirurgia , Lipectomia/métodos , Cicatriz/cirurgia , Mamoplastia/métodos , Necrose/cirurgia , Estudos Retrospectivos , Resultado do Tratamento
5.
Clin Nucl Med ; 49(4): e164-e165, 2024 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-38377363

RESUMO

ABSTRACT: A 78-year-old man receiving bicalutamide for prostate cancer was referred for a PSMA PET/CT scan to evaluate his gradually rising prostate-specific antigen level. The PSMA PET/CT revealed gynecomastia with radiotracer uptake in bilateral breast parenchyma, a known but rarely reported effect of bicalutamide monotherapy. This scan also demonstrated metastatic progression of his disease in bone and lymph nodes, and he was started on leuprolide injections. Three months after a decrease in his testosterone level, the radiotracer uptake in his breast tissue had resolved, demonstrating that PSMA-avid bicalutamide-induced gynecomastia is reversible.


Assuntos
Anilidas , Ginecomastia , Nitrilas , Neoplasias da Próstata , Compostos de Tosil , Masculino , Humanos , Idoso , Ginecomastia/induzido quimicamente , Ginecomastia/diagnóstico por imagem , Antagonistas de Androgênios/efeitos adversos , Androgênios , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Neoplasias da Próstata/complicações , Neoplasias da Próstata/tratamento farmacológico
6.
PLoS One ; 19(2): e0296390, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38315701

RESUMO

Estradiol is an important regulator of bone accumulation and maintenance. Circulating estrogens are primarily produced by the gonads. Aromatase, the enzyme responsible for the conversion of androgens to estrogen, is expressed by bone marrow cells (BMCs) of both hematopoietic and nonhematopoietic origin. While the significance of gonad-derived estradiol to bone health has been investigated, there is limited understanding regarding the relative contribution of BMC derived estrogens to bone metabolism. To elucidate the role of BMC derived estrogens in male bone, irradiated wild-type C57BL/6J mice received bone marrow cells transplanted from either WT (WT(WT)) or aromatase-deficient (WT(ArKO)) mice. MicroCT was acquired on lumbar vertebra to assess bone quantity and quality. WT(ArKO) animals had greater trabecular bone volume (BV/TV p = 0.002), with a higher trabecular number (p = 0.008), connectivity density (p = 0.017), and bone mineral content (p = 0.004). In cortical bone, WT(ArKO) animals exhibited smaller cortical pores and lower cortical porosity (p = 0.02). Static histomorphometry revealed fewer osteoclasts per bone surface (Oc.S/BS%), osteoclasts on the erosion surface (ES(Oc+)/BS, p = 0.04) and low number of osteoclasts per bone perimeter (N.Oc/B.Pm, p = 0.01) in WT(ArKO). Osteoblast-associated parameters in WT(ArKO) were lower but not statistically different from WT(WT). Dynamic histomorphometry suggested similar bone formation indices' patterns with lower mean values in mineral apposition rate, label separation, and BFR/BS in WT(ArKO) animals. Ex vivo bone cell differentiation assays demonstrated relative decreased osteoblast differentiation and ability to form mineralized nodules. This study demonstrates a role of local 17ß-estradiol production by BMCs for regulating the quantity and quality of bone in male mice. Underlying in vivo cellular and molecular mechanisms require further study.


Assuntos
Transtornos 46, XX do Desenvolvimento Sexual , Aromatase , Transplante de Medula Óssea , Ginecomastia , Infertilidade Masculina , Erros Inatos do Metabolismo , Camundongos , Animais , Masculino , Aromatase/genética , Aromatase/metabolismo , Osso Esponjoso/diagnóstico por imagem , Osso Esponjoso/metabolismo , Porosidade , Camundongos Endogâmicos C57BL , Estrogênios , Estradiol , Células da Medula Óssea/metabolismo , Coluna Vertebral/metabolismo , Camundongos Knockout
7.
BMJ Open ; 14(2): e076608, 2024 01 16.
Artigo em Inglês | MEDLINE | ID: mdl-38228396

RESUMO

OBJECTIVE: Recent evidence supports that gynaecomastia may predict long-term morbidity, but evidence on the association with death and causes of death in males with gynaecomastia is lacking. The objective of this work is to estimate the risk of death in men diagnosed with gynaecomastia and evaluate whether this was conditional on underlying aetiologies of gynaecomastia. DESIGN: A nationwide register-based cohort study. SETTING: Nationwide Danish national health registries. PARTICIPANTS: Males were diagnosed with incident gynaecomastia (n=23 429) from 1 January 1995 to 30 June 2021, and each was age and calendar matched to five randomly population-based males without gynaecomastia (n=117 145). INTERVENTIONS: Not applicable. PRIMARY AND SECONDARY OUTCOMES: Gynaecomastia was distinguished between males without (idiopathic) and males with a known pre-existing risk factor. Cox regression models and Kaplan-Meier analyses estimated associations between gynaecomastia and death (all cause/cause specific). RESULTS: We identified a total of 16 253 males with idiopathic gynaecomastia and 7176 with gynaecomastia and a known pre-existing risk factor. Of these, 1093 (6.7%) and 1501 (20.9%) died during follow-up, respectively. We detected a 37% increased risk of all-cause death in males with gynaecomastia in the entire cohort (HR 1.37; 95% CI 1.31 to 1.43). Death risk was highest in males diagnosed with gynaecomastia and a known pre-existing risk factor (HR 1.75; 95% CI 1.64 to 1.86) compared with males with idiopathic gynaecomastia (HR 1.05; 95% CI 0.98 to 1.13). Specific causes of increased death were malignant neoplasms and circulatory, pulmonary and gastrointestinal diseases. Of the latter, an over fivefold risk of death from liver disease was detected (HR 5.05; 95% CI 3.97 to 6.42). CONCLUSIONS: Males diagnosed with gynaecomastia are at higher risk of death, observed mainly in males with a known pre-existing risk factor of gynaecomastia. These findings will hopefully stimulate more awareness among healthcare providers to potentially apply interventions that aid in alleviating underlying risk factors in males with this condition.


Assuntos
Ginecomastia , Neoplasias , Humanos , Masculino , Estudos de Coortes , Ginecomastia/epidemiologia , Fatores de Risco , Modelos de Riscos Proporcionais , Sistema de Registros , Dinamarca/epidemiologia
8.
Obes Surg ; 34(3): 836-840, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38282174

RESUMO

PURPOSE: With the increase in obesity epidemic among Asians, it is necessary to evaluate the impact of obesity on this population. Low testosterone levels are known to be associated with obesity. This is the 1st study from Asia to evaluate incidence and magnitude of hypotestosteronemia in young adults with BMI more than 32.5 kg/m2 defined as moderate to severe obesity in Asians. MATERIALS AND METHODS: One hundred thirty-four male patients with BMI more than 32.5 kg/m2, between 18 and 30 years old who visited a single bariatric facility between 2017 and 2020, were evaluated with BMI, total and free testosterone levels and clinical features of gynecomastia, hypogonadism, and thinning of pubic and armpit hair. Statistical analysis was performed using SPSS, Spearman's correlation coefficient, and ANOVA test. RESULTS: 60.4% of patients (84/134) had low testosterone levels (< 300 ng/dl) and 23.9% (32/134) had levels between 300 and 400 ng/dl. 89.6% patients (120/134 had gynecomastia, 60.4% (81/134) had thinning of pubic and arm pit hair, and 62.7% (84/134) had hypogonadism. Testosterone levels showed a decreasing trend with increasing BMI, but it was not statistically significant. CONCLUSION: Obesity is one of the important etiologies of hypotestosteronemia and its manifestations in young adults. The actual incidence may be significantly higher than what is reported in the literature. High-quality research is required to address questions of diagnosis and best treatment options.


Assuntos
Ginecomastia , Hipogonadismo , Obesidade Mórbida , Adulto Jovem , Humanos , Masculino , Adolescente , Adulto , Obesidade Mórbida/cirurgia , Testosterona , Ginecomastia/complicações , Ginecomastia/tratamento farmacológico , Incidência , Obesidade/complicações , Obesidade/epidemiologia , Obesidade/tratamento farmacológico , Hipogonadismo/complicações , Hipogonadismo/epidemiologia
9.
Pediatr Blood Cancer ; 71(4): e30864, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38259036

RESUMO

RATIONALE: Sex cord-stromal tumors (SCST) are hormonally active and rare. The aim was to describe their endocrinological presentation and outcomes. METHOD: Patients (< 19 years) registered in the TGM13 registry between 2014 and 2021 for SCST were selected. RESULTS: Sixty-three ovarian SCST (juvenile granulosa tumor (JGT) n = 34, Sertoli-Leydig cell tumor (SLCT) n = 17, other SCST n = 12) were included. Median age was 13.1 years (0.4-17.4). Germline DICER1 pathogenic variant was present in 9/17 SLCT. Sixty-one were FIGO stage I (IC n = 14). Adjuvant chemotherapy was administered for 15. Seven had recurrence (FIGO IA n = 3, IX n = 2, III n = 2), leading to one death. With a median follow-up of 42 months (2.5-92), the 3-year progression-free survival (PFS) was 89% (95% CI 76%-95%). Median age was 6.4 years (0.1-12.9) among the 15 testicular SCST (Leydig cell tumor n = 6, JGT n = 5, Sertoli cell tumor n = 3, mixed SCST n = 1). Tumor-nodes-metastases (TNM) stage was pSI in 14. Eight underwent a tumorectomy, 7 an orchiectomy. None experienced recurrence. Endocrinological data were reviewed for 41 patients (18 prepubescent). Endocrine symptoms were present at diagnosis in 29/34 females and 2/7 males (gynecomastia). After a median follow-up of 11 months, 15 patients had persistent endocrine abnormalities: gynecomastia/breast growth (2 males, 1 prepubescent female), precocious/advanced puberty (4 prepubescent females), and hirsutism/menstruation disorders/voice hoarseness/hot flashes (8 pubescent females). The mean height at the last follow-up was within normal ranges (+0.3 standard deviation). CONCLUSIONS: SCSTs have a favorable prognosis. Tumorectomy appears safe with testicular primary. Endocrinological disorders, common at diagnosis, may persist warranting endocrinological follow-up.


Assuntos
Ginecomastia , Neoplasias Ovarianas , Tumor de Células de Sertoli-Leydig , Tumores do Estroma Gonadal e dos Cordões Sexuais , Criança , Masculino , Humanos , Feminino , Adolescente , Neoplasias Ovarianas/cirurgia , Neoplasias Ovarianas/diagnóstico , Tumores do Estroma Gonadal e dos Cordões Sexuais/metabolismo , Tumores do Estroma Gonadal e dos Cordões Sexuais/patologia , Sistema de Registros , Ribonuclease III , RNA Helicases DEAD-box
10.
Surg Innov ; 31(1): 5-10, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37995296

RESUMO

BACKGROUND: Gynecomastia is a benign condition that develops due to the proliferation of breast tissue in men. Surgical excision is the most effective treatment method. Minimally invasive techniques can be used to avoid visible scarring. We evaluated the efficacy and safety of air-assisted subcutaneous mastectomy in the treatment of gynecomastia. PATIENT AND METHODS: 10 patients with gynecomastia underwent air-assisted subcutaneous mastectomy and liposuction through a single axillary incision, between June 2022 and February 2023. Demographic and clinical data of the patients, duration of surgery, and complications were recorded. The satisfaction levels of the patients regarding physical appearance, mental status, and social environment were measured. The body Q questionnaire was performed preoperatively and in the postoperative third month. RESULTS: The median age was 26 (range, 18-54). Surgical excision was measured as a median of 69 gr (range, 41-177), and liposuction volume was measured as a median of 210 ccs (range, 63-400). The median operation time was 50 minutes (range, 21-60) for excision and 21 minutes (range, 20-75) for liposuction. Body, chest, and nipples related appearance satisfaction levels were measured preoperatively as a median of 44 (range, 36.5-52), 31 (range, 27.5-39), and 51.5 (range, 21-69.8) points vs postoperatively as 92 (range, 92-100), 93 (range, 93-94.8) and 90 (range, 90-100) points, respectively. The patients had a median follow-up of 6 months (range, 3-11). No complications were observed during the follow-up period. CONCLUSION: Air-assisted subcutaneous mastectomy and liposuction is a feasible technique that may provide good cosmetic outcomes by avoiding anterior chest wall scarring.


Assuntos
Neoplasias da Mama , Ginecomastia , Lipectomia , Masculino , Humanos , Adulto , Ginecomastia/cirurgia , Mastectomia/métodos , Cicatriz/prevenção & controle , Neoplasias da Mama/cirurgia , Resultado do Tratamento , Procedimentos Cirúrgicos Minimamente Invasivos/métodos , Lipectomia/métodos , Estudos Retrospectivos
11.
J Craniofac Surg ; 35(1): 208-210, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-37991407

RESUMO

Gynecomastia presents as abnormal hypertrophy of mammary tissue in males that is typically asymptomatic and usually does not require intervention. Gynecomastia responds well to medical and surgical treatment, when necessary, with low recurrence rates. The authors report an atypical case of recurrent idiopathic unilateral gynecomastia first presenting in an adolescent male. Physical examination, hormonal, and oncologic evaluations were normal. After subcutaneous mastectomy with liposuction and treatment with Tamoxifen at 19 years old, his unilateral gynecomastia recurred over the course of 3 years, requiring a second surgery. Furthermore, we review the literature for recurrent gynecomastia after surgical management to examine prevalence and risk factors.


Assuntos
Neoplasias da Mama , Ginecomastia , Lipectomia , Humanos , Masculino , Adolescente , Adulto Jovem , Adulto , Ginecomastia/diagnóstico , Ginecomastia/cirurgia , Mastectomia , Neoplasias da Mama/cirurgia , Resultado do Tratamento , Estudos Retrospectivos , Lipectomia/efeitos adversos
12.
Br J Clin Pharmacol ; 90(1): 350-353, 2024 01.
Artigo em Inglês | MEDLINE | ID: mdl-37917870

RESUMO

A middle-aged Caucasian man living with HIV, clinically stable (viral load <20 copies/mL) on injectable antiretroviral cabotegravir plus rilpivirine every 2 months presented with a 6-month history of bilateral enlargement of the breasts associated with pain. His hormonal profile was normal, and no other underlying cause was identified. He was diagnosed with idiopathic gynecomastia. Tamoxifen is an anti-oestrogen recommended for gynecomastia and has been described in people living with HIV but can potentially induce the activity of cytochrome P450 3A4 (CYP3A4), reducing rilpivirine concentrations, which consequently may cause virological failure and resistance. This is the same for other antiretroviral agents majorly induced by CYP3A4. To date, there have been no reported cases of using anastrozole as a treatment for gynecomastia in people living with HIV or of its co-administration with antiretroviral. We describe the use of an aromatase inhibitor instead of tamoxifen in a person living with HIV, diagnosed with gynecomastia.


Assuntos
Fármacos Anti-HIV , Ginecomastia , Infecções por HIV , Masculino , Pessoa de Meia-Idade , Humanos , Anastrozol/uso terapêutico , Ginecomastia/induzido quimicamente , Ginecomastia/tratamento farmacológico , Citocromo P-450 CYP3A , Infecções por HIV/complicações , Infecções por HIV/tratamento farmacológico , Rilpivirina/uso terapêutico , Antirretrovirais/uso terapêutico , Tamoxifeno/efeitos adversos , Fármacos Anti-HIV/efeitos adversos
13.
Asian J Surg ; 47(1): 222-228, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37596215

RESUMO

BACKGROUND: Minimally invasive access and fast recovery are trends of gynecomastia surgery. We placed great importance on liposuction and modified original pull-through technique. The purpose of this study was to present a refined surgical strategy for gynecomastia in grade I and II. METHODS: The refined strategy embraced enhanced liposuction to remove the intraglandular fat sufficiently, followed by open resection of gland using the pull-through and bottom-up technique with adjuvant liposuction in the end. Surgical data were recorded and satisfactory questionnaires with 5-point scales were administered during follow-up. RESULTS: Between January 2017 and May 2022, 165 patients underwent enhanced liposuction combined with the pull-through and bottom-up technique for gland excision. Age ranged from 12 to 56 years. The median length of surgery was 100 min. A median of 300 ml of fat was aspirated and a median of 20.8 g of gland was excised. Seventy-seven patients (46.7%) responded the questionnaires at least 6 months postoperatively, and the average overall satisfaction was 4.68 ± 0.52 points. Thirteen sides of breasts developed complications with a rate of 4.0%. CONCLUSION: Enhanced liposuction combined with pull-through and bottom-up technique proved effective to treat grade I and II gynecomastia with minimal scarring and high satisfaction. The refined strategy was simple and safe, and would obtain optimal outcomes even for inexperienced surgeons.


Assuntos
Ginecomastia , Lipectomia , Masculino , Humanos , Criança , Adolescente , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Ginecomastia/cirurgia , Lipectomia/métodos , Procedimentos Cirúrgicos Minimamente Invasivos , Estética , Pacientes , Estudos Retrospectivos
14.
Ann Endocrinol (Paris) ; 85(1): 48-55, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37348676

RESUMO

BACKGROUND: Aromatase deficiency is a rare disorder, with only a few cases reported in India. We describe a single-center experience in western India, with a systematic review of genetically proven 46,XX aromatase deficiency patients to evaluate hormonal parameters. METHODS: Retrospective review of case records, collating phenotypic and genotypic data and molecular modeling. Systematic review of 46,XX aromatase deficiency, analyzing data on gonadotropins, estrogen and androgens. RESULTS: In the seven patients from our center, presentation was frequent in childhood or adolescence (4/7: delayed puberty or hyperandrogenism), with maternal virilization (4/7), predominance of Prader III/IV (5/7), and initial rearing as females (6/7). Three patients had hypoplastic ovaries. One patient had spontaneous regular menses. We report three novel (p.Arg115Pro, p.Arg192Pro, and c.145+1_145+4delins) and two recurrent variants (p.Val370Met, and c.145+1_145+4delins) in western and northern India, respectively. On systematic review (n=43), gonadotropins were elevated (FSH>LH) across ages (except preterm infants), androgens were elevated in about one-third of cases during childhood and puberty, and estradiol was lower than in controls in mini-puberty and puberty. Spontaneous thelarche and streak ovaries were significantly more frequent in patients with non-truncating and truncating variants, respectively. CONCLUSION: We report uncommon presentations with possible founder variants, and highlight hormonal parameters across ages. Serum FSH levels were elevated except in preterms, and can be used as a diagnostic marker.


Assuntos
Transtornos 46, XX do Desenvolvimento Sexual , Aromatase/deficiência , Ginecomastia , Recém-Nascido Prematuro , Infertilidade Masculina , Erros Inatos do Metabolismo , Masculino , Lactente , Feminino , Adolescente , Humanos , Recém-Nascido , Androgênios , Hormônio Foliculoestimulante , Gonadotropinas
16.
Ann Ital Chir ; 94: 543-548, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38051508

RESUMO

AIM: Gynecomastia is a benign proliferation of the glandular tissue of the male breast that causes considerable emotional distress due to restriction of daily activity, especially in young men. In patients with severe gynecomastia, a new approach is described with liposuction combined with circumareolar subcutaneous mastectomy with minimal periareolar scarring, including the elimination of the excess skin. Prospectively recorded data in a period of fifteen-month were evaluated retrospectively for aesthetic outcomes and early and late complications. MATERIAL-METHOD: A total of 18 patients (36 breasts) were treated between September 2021 and December 2022. The patient was marked preoperatively while standing up. Under general anesthesia, power assisted liposuction and deepithelialization of excess skin were performed. A superiorly based nipple areola complex (NAC) flap was created with attention to blood supply intact. The excess fibroglandular tissue was resected. The wound was approximated with pursestring suture and the NAC was positioned in its new location. The wound was closed after the insertion of a hemovac drain into the liposuction port. RESULTS: The ages of patients with bilateral grade 3 gynecomastia ranged from 17 to 34. Follow-ups ranged from 5 months to 1 year. The prophylactic antibiotic treatment administered to all patients. Liposuction was performed again on one patient due to an aesthetic problem. Minimal areola enlargement was observed in 2 patients. CONCLUSIONS: This new circumareolar approach with liposuction is a good method for wide excision of breast tissue in the surgical management of severe gynecomastia with minimal scarring and very good cosmetic results. KEY WORDS: Breast, Gynecomastia, Periareolar incision, Power assisted liposuction, Surgical Technique, Subcutaneous mastectomy.


Assuntos
Neoplasias da Mama , Ginecomastia , Lipectomia , Humanos , Masculino , Ginecomastia/cirurgia , Estudos Retrospectivos , Lipectomia/métodos , Cicatriz/cirurgia , Neoplasias da Mama/cirurgia , Mastectomia , Resultado do Tratamento
18.
World J Surg Oncol ; 21(1): 335, 2023 Oct 26.
Artigo em Inglês | MEDLINE | ID: mdl-37880770

RESUMO

BACKGROUND: Minimal-accessed (robotic and endoscopic) breast cancer surgery is increasingly performed due to better cosmetic results and acceptable oncological outcomes. This study aims to demonstrate the clinical safety and patient-reported cosmetic satisfaction of single-port three-dimensional endoscopic-assisted breast surgery (S-P 3D EABS), which is our new endoscopic surgical innovation, in both malignant and benign breast conditions. METHODS: Patients who underwent S-P 3D EABS from 1 August 2018 to 31 July 2022 in a single institution were enrolled. Clinical outcomes of this procedure were retrospectively reviewed, and the patient-reported cosmetic satisfaction was evaluated by a questionnaire and reported herein. RESULTS: During the study period, 145 patients underwent 164 procedures of S-P 3D EABS. One hundred fifty (91.5%) procedures were endoscopic-assisted nipple-sparing mastectomy (S-P 3D E-NSM; 117 therapeutic procedures for breast cancer, 13 prophylactic mastectomies, 20 procedures for gynecomastia). Fourteen (8.5%) procedures of endoscopic-assisted breast-conserving surgery (S-P 3D E-BCS) were performed (12 S-P 3D E-BCS, 2 S-P 3D E-BCS with 3D videoscope-assisted partial breast reconstruction, which was 1 case of latissimus dorsi flap and 1 case of omental flap). The mean operative time was 245 ± 110 min in S-P 3D E-NSM and 260 ± 142 min in S-P 3D E-BCS. The mean intraoperative blood loss was 49.7 ± 46.9 ml in S-P 3D E-NSM and 32.8 ± 17.5 ml in S-P 3D E-BCS. Subnipple biopsy showed positive malignancy in 3 (2.6%) S-P 3D E-NSM patients. None of the S-P 3D E-BCS patients found margin involvement; however, 3 (2.6%) reported margin involvement in S-P 3D E-NSM patients. Thirty-two complications were found (24.6%): 7 (5.3%) transient nipple-areolar complex (NAC) ischemia, 7 (5.3%) partial NAC necrosis, 1 (0.7%) total NAC necrosis, and 1 (0.7%) implant loss. During the mean follow-up time of 34 months, there were 2 (1.5%) patients with locoregional recurrence, 9 (6.9%) distant metastasis, and 2 (1.5%) mortality. 78.6% (77/98) of patients answering the cosmetic-evaluated questionnaire reported good and excellent overall satisfaction. CONCLUSIONS: S-P 3D EABS is a novel surgical innovation, which is able to perform safely in either malignant or benign breast conditions and offer promising cosmetic results.


Assuntos
Neoplasias da Mama , Ginecomastia , Mamoplastia , Humanos , Neoplasias da Mama/patologia , Ginecomastia/etiologia , Ginecomastia/cirurgia , Mamoplastia/métodos , Mastectomia/efeitos adversos , Mastectomia/métodos , Necrose/etiologia , Necrose/cirurgia , Recidiva Local de Neoplasia/cirurgia , Mamilos/patologia , Mamilos/cirurgia , Medidas de Resultados Relatados pelo Paciente , Satisfação do Paciente , Estudos Retrospectivos , Feminino
19.
Probl Endokrinol (Mosk) ; 69(4): 101-106, 2023 08 30.
Artigo em Russo | MEDLINE | ID: mdl-37694873

RESUMO

Peutz-Jeghers Syndrome (Peutz-Jeghers Syndrome, PJS) refers to syndromes of hereditary tumor predisposition and is caused by pathological variants of the STK11 gene, leading to a defect in the synthesis of serine/threonine kinase 11 protein, which acts as a tumor suppressor.Clinical symptoms of the syndrome are combination of hamartomatous polyposis of the gastrointestinal tract and specific skin-mucosal hyperpigmentation. Also, this disease is characterized by a high risk of developing gastrointestinal and extra-intestinal tumors, including benign or malignant tumors of the reproductive system.One of the first signs of the disease in male patients may be prepubertal gynecomastia associated with large-cell calcifying Sertoli cells tumors expressing aromatase. In contrast to from pubertal gynecomastia, prepubertal is extremely rare, and it is often based on pathological causes. Early diagnosis of patients with pre-pubertal gynecomastia, including Peitz-Jaegers syndrome, defines the tactics of gynecomastia management and protocols for monitoring the development of other components of the disease in the future.This article describes two patients with pre-pubertal gynecomastia and Peitz-Jaegers syndrome with different molecular genetic defects: in one case associated with duplication of the STK11 gene site, in the other - with microdeletion of the short arm of chromosome 19 containing this gene.


Assuntos
Charadriiformes , Ginecomastia , Hiperpigmentação , Síndromes Neoplásicas Hereditárias , Síndrome de Peutz-Jeghers , Humanos , Masculino , Animais , Síndrome de Peutz-Jeghers/complicações , Síndrome de Peutz-Jeghers/genética , Ginecomastia/genética , Genótipo , Predisposição Genética para Doença
20.
Indian J Pediatr ; 90(10): 1013-1017, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-37592101

RESUMO

Enlargement of breasts among boys is termed gynecomastia. This could be due to an alteration in the androgen-estrogen ratio along with the effects of other hormones including growth hormone, insulin like growth factor 1, prolactin, and other factors affecting aromatase enzyme. The common causes of gynecomastia are pubertal gynecomastia, obesity, drugs and hypogonadism. Several other diseases including liver or renal failure, thyrotoxicosis, Klinefelter syndrome, tumors and environmental pollutants can cause gynecomastia. History and clinical examination will help formulate targeted investigations and management. The factors to be evaluated in these include examination of breasts and testes, in addition to other parts of systemic examination. Treatment of underlying disorders can improve gynecomastia, such as use of testosterone in hypogonadism. Some boys may not need any intervention as gynecomastia may resolve on its own. Medical management is useful in simple gynecomastia. Tamoxifen has been tried successfully in adolescents with gynecomastia. Other drugs including clomiphene, danazol, letrozole and anastrozole have not been consistently useful in this age group. In severe chronic gynecomastia, surgery is the treatment of choice.


Assuntos
Ginecomastia , Hipogonadismo , Adolescente , Masculino , Humanos , Ginecomastia/diagnóstico , Ginecomastia/etiologia , Ginecomastia/terapia , Hipertrofia , Tamoxifeno/efeitos adversos , Hormônio do Crescimento
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