ABSTRACT
ABSTRACT Objective: To present a case of bilateral gynecomastia in a prepubertal boy with autism spectrum disorder, diagnosed with myotonic dystrophy type 1. Case description: A 12-year-old boy with autism spectrum disorder presented at a follow-up visit with bilateral breast growth. There was a family history of gynecomastia, cataracts at a young age, puberty delay, and myotonic dystrophy type 1. The physical examination showed that he had bilateral gynecomastia with external genitalia Tanner stage 1. Neurologic examination was regular, without demonstrable myotonia. The analytical study revealed increased estradiol levels and estradiol/testosterone ratio. After excluding endocrine diseases, the molecular study of the dystrophia myotonica protein kinase gene confirmed the diagnosis of myotonic dystrophy type 1. Comments: A diagnosis of prepubertal gynecomastia should include an investigation for possible underlying diseases. This case report highlights the importance of considering the diagnosis of myotonic dystrophy type 1 in the presence of endocrine and neurodevelopmental manifestations.
RESUMO Objetivo: Apresentar o caso de um adolescente pré-púbere com ginecomastia bilateral e transtorno do espectro autista, diagnosticado com distrofia miotônica tipo 1. Descrição do caso: Adolescente do sexo masculino de 12 anos, com transtorno do espectro autista, observado em consulta de seguimento por crescimento mamário bilateral. O paciente tinha antecedentes familiares de ginecomastia, catarata em idade jovem, atraso pubertário e distrofia miotônica tipo 1. À observação física, apresentava ginecomastia bilateral estádio 1 de Tanner. O exame neurológico era normal, sem miotonia aparente. O estudo analítico mostrou níveis elevados de estradiol e da relação estradiol/testosterona. Após exclusão de causas endócrinas, o estudo molecular do gene DMPK confirmou o diagnóstico de distrofia miotônica tipo 1. Comentários: Perante um quadro de ginecomastia pré-púbere, deve-se excluir doenças subjacentes. Este caso reforça a importância de considerar o diagnóstico de distrofia miotônica tipo 1 na presença de manifestações endócrinas e do neurodesenvolvimento.
Subject(s)
Humans , Male , Child , Gynecomastia/etiology , Myotonic Dystrophy/complications , Pedigree , Testosterone/blood , Puberty , Estradiol/chemistry , Myotonin-Protein Kinase/genetics , Autism Spectrum Disorder , Genitalia, Male/anatomy & histology , Gynecomastia/blood , Myotonic Dystrophy/diagnosis , Myotonic Dystrophy/genetics , Myotonic Dystrophy/bloodABSTRACT
La ginecomastia es el crecimiento de la mama por un desequilibrio hormonal entre estrógenos y andrógenos. Un crecimiento importante y unilateral requiere descartar patologías subyacentes. Una causa poco frecuente es la traumática, que provoca aumento de tamaño por estimulación repetida. Se presenta el caso de un niño de 6 años con ginecomastia unilateral. Se destaca como único hallazgo en las pruebas complementarias hiperprolactinemia. Rehistoriando, se detecta una continua autoestimulación mamaria manual y oral a través de mordiscos de meses de evolución. Tras el cese del estímulo, se observa la involución de la mama y la normalización de los niveles de prolactina séricos.
Gynecomastia consists of breast enlargement due to a hormonal imbalance between estrogens and androgens. Unilateral and important breast growth requires ruling underlying pathologic disorders out. Mechanical cause is uncommon, causing enlargement by repeated stimulation. We report a 6-year-old boy with unilateral gynecomastia. Hyperprolactinemia is the only abnormal finding at laboratory tests. After repeated inquiries, a continuous breast selfstimulation is detected. Its relation with gynecomastia is verified because prolactin normalizes and breast regressed in further revisions, after stopping stimulus.
Subject(s)
Humans , Male , Child , Hyperprolactinemia/etiology , Gynecomastia/etiology , Prolactin/blood , Hyperprolactinemia/diagnosis , Gynecomastia/diagnosisABSTRACT
O objetivo deste trabalho foi observar na literatura dados referentes à etiologia da ginecomastia, seu diagnóstico e aspectos radiológicos. A metodologia adotada foi a pesquisa bibliográfica sistematizada para a produção de um artigo de revisão, de modo a responder ao objetivo proposto. A ginecomastia pode ser dividida em fisiológica (neonatal, puberal e senil) e patológica (resultante da diminuição da ação da testosterona, ou do aumento da ação estrogênica, por mecanismo de indução por drogas, idiopática ou secundária a outras causas). O diagnóstico deve ser realizado através do exame físico, investigação endócrina e exames radiológicos, como a mamografia e a ultrassonografia. O tratamento está baseado na orientação, medicamentos e, em último caso, cirúrgico.(AU)
The objective of this study was to observe data in the literature regarding the etiology, diagnosis and radiological aspects of gynecomastia. The methodology included a systematic literature search to produce a review article in order to meet the objective. Gynecomastia can be divided into physiologic (neonatal, pubertal and senile) and pathological (due to decreased action of testosterone, increased estrogen action, drug?induced, idiopathic or due to other causes). The diagnosis could be made by physical examination, endocrine and radiological investigation, as mammography and ultrasound. The treatment is based on the guidance, medication and, ultimately, surgery.(AU)
Subject(s)
Humans , Male , Gynecomastia/diagnosis , Gynecomastia/etiology , Gynecomastia/physiopathology , Gynecomastia/diagnostic imaging , Tamoxifen/therapeutic use , Databases, Bibliographic , Gynecomastia/drug therapyABSTRACT
A romatase excess syndrome (AEXS) is a rare autosomal dominant disorder characterized by prepubertal gynecomastia, it responds well to medical treatment. In the absence of prompt suspicion, it can expose the patient to the risk of unnecessary surgical intervention. Up to our best knowledge, the association between AEXS and neurofibromatosis type 1 (NF1) was not reported before. Here, we describe a AEXS presenting with prepubertal gynecomastia in an Egyptian child with NF1 that improved with aromatase inhibitors.
Subject(s)
Aromatase/genetics , Child, Preschool , Egypt/epidemiology , Gynecomastia/epidemiology , Gynecomastia/etiology , Gynecomastia/genetics , Humans , Male , Neurofibromatoses/epidemiology , Neurofibromatoses/geneticsABSTRACT
Gynecomastia (GM) is characterized by enlargement of the male breast, caused by glandular proliferation and fat deposition. GM is common and occurs in adolescents, adults and in old age. The aim of this review is to discuss the pathophysiology, etiology, evaluation and therapy of GM. A hormonal imbalance between estrogens and androgens is the key hallmark of GM generation. The etiology of GM is attributable to physiological factors, endocrine tumors or dysfunctions, non-endocrine diseases, drug use or idiopathic causes. Clinical evaluation must address diagnostic confirmation, search for an etiological factor and classify GM into severity grades to guide the treatment. A proposal for tailored therapy is presented. Weight loss, reassurance, pharmacotherapy with tamoxifen and surgical correction are the therapeutic options. For long-standing GM, the best results are generally achieved through surgery, combining liposuction and mammary adenectomy.
A ginecomastia (GM) é caracterizada pelo aumento do volume mamário em homens, provocada por proliferação glandular e depósito de gordura. É comum e pode ocorrer em adolescentes, adultos e idosos. O objetivo desta revisão é discutir a fisiopatologia, etiologia, avaliação clínica e terapia da GM. Um desequilíbrio entre estrogênios e androgênios é reconhecido como a condição fundamental para a determinação do quadro, podendo ser atribuído a fatores fisiológicos, tumores ou distúrbios endócrinos, doenças não-endócrinas, uso de drogas ou ser de causa idiopática. A avaliação clínica deve enfocar a confirmação diagnóstica, a procura de uma causa específica e a classificação em graus de gravidade para orientar o tratamento. Um roteiro de conduta individualizada é apresentado, variando entre perda de peso e explicações verbais, tratamento com tamoxifeno e correção cirúrgica. Para casos de GM persistente, os melhores resultados são obtidos em geral mediante abordagem cirúrgica, combinando lipoaspiração e adenectomia mamária.
Subject(s)
Humans , Male , Gynecomastia , Endocrine System Diseases/physiopathology , Gynecomastia/etiology , Gynecomastia/physiopathology , Gynecomastia/therapy , Severity of Illness IndexABSTRACT
Gynecomastia is a benign enlargement of the male breast. Was to analyze a 3 year period of gynecomastia patients in Al Kindy Teaching Hospital and the surgical approach used and its outcome. A prospective study of patients consulting Al Kindy Teaching Hospital because of gynecomastia between October 2007and August 2010 was done. Data were analyzed for etiology, grade of gynecomastia, surgical technique, complications, and histological results. A total of 64 patients with 86 operations were included. Techniques included subcutaneous mastectomy alone, or subcutaneous mastectomy with wise pattern "inverted T incision". Atypical histological findings were found in 3.12% of the patients [papilloma, fibrolipoma]. Surgical revision among all patients was 7%. Body mass index higher than 25kg/m2 was found as significant risk factors for complications [p/0.043], and that higher grades of gynecomastia [grade IIb and III]had higher statistical incidence of complications p=0.01 The treatment of gynecomastia requires an individualized approach. Caution must be taken in high BMI and higher grades, which are associated with increased complication rates. Histological tissue diagnosis should be routinely performed in all true gynecomastia corrections, because histological results may reveal atypical cellular pathology
Subject(s)
Humans , Male , Aged , Adolescent , Adult , Middle Aged , Gynecomastia/pathology , Gynecomastia/etiology , Mastectomy , Prospective Studies , Treatment Outcome , Body Mass Index , Risk FactorsABSTRACT
Although gynecomastia is a well-defined paraneoplastic syndrome in patients with non-small cell lung cancer, the association with pleomorphic carcinoma has not been reported. A 50-yr-old man presented with bilateral gynecomastia and elevated serum beta-human chorionic gonadotropin (beta hCG) level. Chest tomography showed a mass in the right middle lobe. Right middle lobectomy and mediastinal lymph node dissection were performed. beta hCG levels decreased rapidly after surgery. Histological examination revealed pleomorphic carcinoma with positive immunostaining for beta hCG. Serum beta hCG levels began to increase gradually on postoperatively 4th month. Computed tomography detected recurrence and chemotherapy was started. After second cycle of chemotherapy, beta hCG levels decreased dramatically again and tomography showed regression in mass. Patient died 6 months later due to brain metastasis. beta hCG expression may be associated with aggressive clinical course and increased risk of recurrence, also beta hCG levels may be used to evaluate therapy response in patients with pleomorphic carcinoma.
Subject(s)
Humans , Male , Middle Aged , Brain Neoplasms/radiotherapy , Carcinoma, Non-Small-Cell Lung/complications , Chorionic Gonadotropin, beta Subunit, Human/blood , Gynecomastia/etiology , Lung Neoplasms/complications , Lymph Nodes/surgery , Recurrence , Risk Factors , Tomography, X-Ray ComputedABSTRACT
A disfunção do eixo gonadotrófico é frequentemente observada em pacientes infectados pelo HIV. A patogênese é multifatorial e está relacionada à duração da infecção pelo HIV, aos efeitos citopáticos diretos do vírus, ao uso de drogas gonadotóxicas, às infecções oportunistas, às neoplasias, à desnutrição, entre outros fatores. Em homens, a redução dos níveis de testosterona está associada à perda de massa e de força muscular, à redução da densidade mineral óssea, à lipodistrofia, à depressão, à astenia, à fadiga e à disfunção sexual. Em pacientes infectados pelo HIV com hipogonadismo, inúmeros estudos têm comprovado os efeitos benéficos da reposição de testosterona sobre o perfil metabólico e a distribuição da gordura corporal, com aumento da massa corporal magra, além de promover melhora da qualidade de vida, reduzir a perda de massa óssea e reduzir os índices de depressão. Assim, esta revisão teve como objetivo trazer uma breve atualização sobre o presente tema, abordando dados epidemiológicos, mecanismos fisiopatológicos e estratégias terapêuticas para as principais anormalidades do eixo gonadotrófico masculino associadas à infecção pelo HIV e ao seu tratamento.
Gonadotrophic axis dysfunction is commonly observed in HIV-infected patients. The pathogenesis is multifactorial and related to duration of HIV infection, direct cytopathic effects of viruses, use of drugs, opportunistic infections, malignancies, and malnutrition, among other factors. In men, reduced levels of testosterone is associated with loss of muscle mass and strength, decreased bone mineral density, lipodystrophy, depression, asthenia, fatigue and sexual dysfunction. In HIV-infected patients with hypogonadism, numerous studies have shown the beneficial effects of testosterone replacement on the metabolic profile and distribution of body fat, with increased body mass weight, and promote better quality of life, reduce the bone mass loss and the rates of depression. Thus, this review aimed to present a brief update of epidemiologic data, pathophysiology aspects and treatment strategies for the major abnormalities of male gonadotrophic axis associated with HIV infection and its treatment.
Subject(s)
Humans , Male , Gonadal Disorders/etiology , HIV Infections/complications , Androgens/therapeutic use , Gonadal Disorders/drug therapy , Gonadal Disorders/physiopathology , Gynecomastia/etiology , HIV Infections/physiopathology , HIV Infections/therapy , HIV-Associated Lipodystrophy Syndrome/complications , Hyperprolactinemia/etiology , Hypogonadism/drug therapy , Hypogonadism/etiology , Testosterone/therapeutic useABSTRACT
El desarrollo de la mama se presenta entre los 8 y los 13 años de edad y es primer signo de desarrollo sexual secundario. La alteración de las características normales de los senos en una adolescente mujer y el crecimiento mamario en los varones deen ser considerados y en consecuencia estudiados. El cirujano plástico pediátrico debe estar entrenado para diagnosticar y tratar este tipo de dismorfias, así como también contener el impacto psicosocial asociado; para ello debe trabajar interdisciplinariamente con psicólogos y pediatras especialistas en crecimiento y desarrollo.
The development of the breast shows up between 8 and 13 years old in the female patient and is the first sign of sexual development. The distortion of the normal characteristics of the breasts in the adolescent female, as well as the mammary growth in the males must be considered and in consequence studied. The plastic pediatric surgeon must be trained in order to diagnose and manage this type dismorfias holding the associated psicosocial impact working interdisciplinaryly with psychologists, pediatricians and pediatric endocrinologists.
Subject(s)
Humans , Adolescent , Child , Choanal Atresia/embryology , Child Development/physiology , Gynecomastia/etiology , Gynecomastia/pathology , Mammary Glands, Human/growth & development , Mammaplasty/psychology , Nipples/abnormalities , Poland Syndrome/etiologyABSTRACT
Tumores testiculares das células de Leydig são muito raros e, em sua grande maioria, benignos e passíveis de tratamento por cirurgia. Relata-se o caso de um adulto cuja primeira manifestação clínica foi ginecomastia bilateral, apresentando massa testicular à palpação. Através de investigação, foi constatada a presença de tumor de células de Leydig, sendo que a ginecomastia evoluiu com redução parcial após o tratamento cirúrgico do tumor
Testicular Leydig cells tumors are very rare and, at most, benign and able of surgical treatment. We report a case of an adult whose first clinical anifestation was bilateral gynecoimastia, with a palpable testicular mass. Trough clinical investigation was diagnosed a Leydig cells tumor. After surgical care, gynecomastia reduced parcially
Subject(s)
Humans , Male , Adult , Leydig Cell Tumor/surgery , Leydig Cell Tumor/diagnosis , Gynecomastia/etiology , Leydig Cell Tumor/complicationsABSTRACT
Background : Gynecomastia can be physiological or pathological. A limited study of gynecomastia is recommended during puberty and in the elderly, ages in which gynecomastia is usually considered physiological. Other authors suggest that this condition should be studied when it is painful, rapidly growing, of recent onset, when its diameter is more than 4 cm and when is associated to testicular masses. Aim: To investigate the causes of gynecomastia and to evaluate the above mentioned criteria to exclude pathological conditions. Material and methods: Prospective study of 117 patients aged 10 to 83 years, consulting for gynecomastia. All were subjected to a standardized study including a clinical examination and measurement of plasma estradiol and testosterone levels. Results: Forty one percent of gynecomastias were considered pathological and the rest, physiological. Among pathological conditions, 18 patients had an endocrine etiology (hypogonadism in ten patients, estrogen secreting tumors in three, hyperestrogenism of unknown etiology in four and peripheral resistance to androgens in one), in 17 it was secondary to medications and in 13 it was secondary to other causes (idiopathic, pesticide exposure, alcoholism, diabetes or re feeding). In 79 percent of 86 patients of less than 20 years, the condition was physiological and in four of five elderly subjects, it was pathological. Thirty nine percent of pathological gynecomastias lacked the signs and symptoms that according to authors, should prompt a thorough study. Conclusions: All patients with gynecomastia should be studied with a complete medical history and the measurement of estradiol and testosterone levels. The criteria proposed to conduct minimal studies in gynecomastia, would miss a large volume of pathological conditions.
Subject(s)
Adolescent , Adult , Aged , Aged, 80 and over , Child , Humans , Male , Middle Aged , Gynecomastia/etiology , Androgen Antagonists/adverse effects , Estradiol/adverse effects , Estradiol/blood , Estrogens/adverse effects , Estrogens/blood , Gynecomastia/blood , Gynecomastia/physiopathology , Hypogonadism/complications , Prospective Studies , Testosterone/bloodABSTRACT
La ginecomastia es una patología de alta incidencia, que puede causar un serio deterioro en la calidad de vida y problemas psicológicos. Etiológicamente pueden dividirse en fisiológicas, patológicas, por medicamentos e ideopáticas, representando estas últimas las más frecuentes. En cuadros de larga evolución la cirugía es el tratamiento de elección. Las técnicas escisionales son las más difundidas, resecándose el tejido glandular a través de un acceso periareolar o transareolar. La lipoaspiración es un recurso complementario, para mejorar el contorno. Este enfrentamiento no está exento de complicaciones. Se presenta una nueva alternativa terapéutica para el manejo quirúrgico de ginecomastias mediante el shaver y lipoaspiración. Se analiza la técnica, presentandose los resultados de 5 pacientes tratados de esta menera, discutiéndose posteriormente algunos puntos de interés en relación a esta patología.
Subject(s)
Humans , Male , Adult , Gynecomastia/surgery , Gynecomastia/classification , Gynecomastia/etiology , LipectomySubject(s)
Humans , Male , Gonadal Steroid Hormones/pharmacology , Hypothalamo-Hypophyseal System/physiology , Testis/physiology , Androgens/deficiency , Penile Erection/physiology , Erectile Dysfunction/drug therapy , Erectile Dysfunction/etiology , Gynecomastia/chemically induced , Gynecomastia/etiology , Hypogonadism/drug therapy , Hypogonadism/etiology , Infertility, Male/etiology , Infertility, Male/therapy , Testosterone/pharmacologyABSTRACT
Os autores relatam os casos de 3 meninos com ginecomastia pré-puberal, de etiologias incomuns. No primeiro caso, ginecomastia bilateral teve início aos 5 anos e 10 meses de idade e foi relacionada com realimentação após doença celíaca. No segundo caso, ginecomastia unilateral foi constatada aos 8 anos e 5 meses de idade, após a introdução de análogo do GnRH, utilizando para tratamento de puberdade precoce verdadeira idiopática diagnosticada aos 5 anos. No terceiro caso, ginecomastia bilateral surgiu aos 5 anos e 9 meses e foi associada à contaminação com estrógeno de origem não estabelecida. Nos três casos, a evolução clínica foi benigna com regressão da ginecomastia. A apresentação dos casos confirma que, nesta faixa etária, a ginecomastia, embora rara, apresenta com freqüência dificuldades diagnósticas em relação ao processo desencadeante.
Subject(s)
Humans , Male , Child , Child, Preschool , Gynecomastia/etiology , Gynecomastia/diagnosisABSTRACT
Ginecomastia é o aumento da mama masculina que pode acometer até 65 por cento dos indivíduos deste sexo na fase infanto-puberal, compreendida entre 13 e 16 anos. Tem como principais cuasas hepatite ou cirrose hepática, carcinoma ou doenças inflamatórias pulmonares crônicas, carcinomas ou disfunções testiculares, tumores glandulares (pituitária, supra-renal), alterações dos níveis séricos de testosterona, síndromes genéticas (síndrome de Klinefelter, p.ex.), uso de drogas como heroína, maconha ou anabolizantes e hanseníase. Podemos classificar a ginecomastia quanto ao volume, quanto aos tecidos que a compõem (gordurosa ou pseudoginecomastia, glandular e mista), ou quanto ao tratamento necessário para sua correção cirúrgica (pequena, moderada e grave). O tratamento das formas mais graves de ginecomastia é muito diferente daquele aplicado às formas mais suaves, pois nas formas graves, além da ressecção dos tecidos gorduroso e glandular, existe a necessidade de ressecção da pele em excesso e o reposicionamento do complexo aréolo-mamilar. O objetivo deste trabalho é descrever uma técnica cirúrgica específica para estes pacientes portadores de formas graves de ginecomastia, através de dois pedículos dermogordurosos, um lateral e um medial, com aproximadamente 2cm de espessura, mantendo assim a nutrição do complexo aréolo-mamilar. Esses pedículos são delimitados entre as bissetrizes dos quadrantes súpero-lateral e ínfero-lateral, e súpero-medial e ínfero-medial, tendo o mamilo como vértice. Na área de pele excessiva periareolar, obtida através do pinçamento interdigital, é realizada a desepidermização dos pedículos lateral e medial e ressecção de toda pele e tecido celular subcutâneo até a fáscia peitoral nas regiões superior e inferior aos pedículos; a síntese é realizada em dois planos, sendo periareolar a cicatriz resultante. Foram operados com esta técnica vinte pacientes com forma grave de ginecomastia, com média etária de 23,3 anos; sendo seis pacientes da raça negra. O bom posicionamento do complexo aréolo-mamilar e uma cicatriz periareolar resultante, bem como a retirada de conteúdo suficiente, foram as principais vantagens observadas. Como complicações, tivemos assimetria das placas aréolo-mamilares em dois casos, nos quais havia acentuada diferença entre os dois lados na avaliação pré-operatória; cicatrização hipertrófica em um paciente da raça negra, cuja cicatriz foi atenuada com injeções intracicatriciais de triancinolona...
Subject(s)
Humans , Male , Adolescent , Adult , Gynecomastia/etiology , Gynecomastia/surgeryABSTRACT
The management of gynecomastias is mainly surgical and aims to lead to a normal male thoracic morphology with minimal cicatrical damages. The classical technique based on Dufourmentel and Webster principles is still the most used; however, it does not allow to manage all clinical forms of gynecomastia. Through a study of two large series; those of J. Baudet [Bordeaux] including 65 cases [first series] and Grabb [New-York] including 30 cases [second series], we try here to point out the tendencies as for the different surgical approaches, the glandular resection, the eventual cutaneous interventions as well the recent contribution of liposuction to this treatment
Subject(s)
Humans , Male , Lipectomy , Gynecomastia/etiology , Postoperative ComplicationsABSTRACT
A 15-year-old boy with idiopathic hyperprolactinemia is described. He was markedly obese, in early puberty, and had gynecomastia and galactorrhea. Serum prolactin level was high, up to 220 pg/ml. Thyroid function test was normal. Idiopathic hyperprolactinemia was diagnosed on the basis of elevated prolactin level, and no demonstrable pituitary tumor was revealed by computerized tomography brain scan and magnetic resonance imaging. Bromocriptine was started initially at the dose 2.5 mg/day, then increased to 7.5 mg/day. Galactorrhea disappeared and prolactin level decreased to < 10 ng/ml. A review of the literature indicates that idiopathic hyperprolactinemia in adolescent males is extremely rare. To our knowledge, this patient is the youngest reported case of hyperprolactinemia in Thailand.
Subject(s)
Adolescent , Bromocriptine/therapeutic use , Galactorrhea/etiology , Gynecomastia/etiology , Humans , Hyperprolactinemia/blood , Male , Prolactin/bloodABSTRACT
Reportamos el caso de una infante de catorce meses de edad, portadora de un Linfoma no Hodkin primario subcutánóeo, de Alto Grado de Malignidad No Clasificable, Formulación Internacional K, estadio clínico IV asociado a ginecomastia, galactorrea y hiperprolactinemia. Con tratamiento quimioterápico el volumen mamario se normalizó así como también el nivel de prolactina. Una neoplasia oculta debe ser considerada en el diagnostico diferencial de una hiperprolactinemia.