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1.
Int. braz. j. urol ; 49(2): 243-257, March-Apr. 2023. tab
Article in English | LILACS-Express | LILACS | ID: biblio-1440243

ABSTRACT

ABSTRACT Purpose Our objective was to investigate the prevalence of SWA, associated factors, relationship with STIs, and behavioral aspects in men attended at Referral Centers for STIs and acquired immunodeficiency syndrome (AIDS)/CR-STI/AIDS in northeast Brazil. Materials and Methods In this cross-sectional study, a questionnaire with sociodemographic, clinical, sexual and SWA practices information was applied to 400 men attended at two CR-STI/AIDS in Northeast Brazil on the years of 2018 and 2019. Clinical and laboratory diagnoses of STIs were confirmed in medical records. Logistic regression models were performed to identify the independent predictors for SWA. Results The prevalence of SWA over total samples was 15.00%. Of the participants, 239 (59.75%) of the participants were diagnosed with STIs, and of these 37 (15.48%) reported SWA. Most men practiced SWA in adolescence, being the last episode more than 20 years ago, usually with asinine and mules, in vaginal route and without a condom. SWA practitioners have higher percentages of occurrence of some viral STIs. SWA was associated with increasing age, history of residence in a rural area with remained over 12 years, married or widowed/separated, heterosexuals, with less than 7 years of study, Catholics, with hepatitis B, former user of alcoholic beverages and smokers, with a history of STI and intercourse with sex workers. Conclusion SWA practices increase STIs vulnerability. The association between hepatitis B and SWA highlights the importance of educational campaigns and conclusive studies on the topic.

2.
Rev. bras. cir. plást ; 37(2): 250-255, abr.jun.2022. ilus
Article in English, Portuguese | LILACS-Express | LILACS | ID: biblio-1379882

ABSTRACT

Introdução: A doença de Milroy manifesta-se como linfedema de membros inferiores e região genital, o que provoca prejuízos físicos e sociais. Relato de Caso: Reporta-se um caso de linfedema penoescrotal severo em um paciente com doença de Milroy. Foi realizada a ressecção cirúrgica do tecido afetado e a reconstrução com retalhos locais e enxerto de pele. Discussão: A doença de Milroy é rara, de caráter autossômico dominante. Sua apresentação clínica é progressiva e decorre da hipoplasia dos vasos linfáticos dos membros inferiores. O tratamento em casos avançados é iminentemente cirúrgico. Conclusão: No caso apresentado, o tratamento cirúrgico é uma boa opção. O uso de retalho paraescrotal para escrotoplastia associado ao enxerto para cobertura do pênis proporciona bom resultado funcional.


Introduction: Milroy disease manifests itself as lymphedema of the lower limbs and genital region, which causes physical and social damage. Case Report: A case of severe-scrotal lymphedema in a patient with Milroy disease. Surgical resection of the affected tissue and reconstruction with local flaps and skin graft were performed. Discussion: Milroy disease is a rare autosomal dominant disease. The clinical presentation is progressive and results from hypoplasia of the lymphatic vessels of the lower limbs. Treatment in advanced cases is mainly surgical. Conclusion: In the case of a patient with Milroy disease and severe penoscrotal lymphedema, surgical treatment is a good option. The use of parascrotal flaps for scrotoplasty associated with a graft to recover the penis provides a good functional result.

3.
An. bras. dermatol ; 97(3): 362-365, 2022. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1383584

ABSTRACT

Abstract Anogenital herpes is one of the most prevalent sexually transmitted infections worldwide. It has several clinical manifestations, from cases of primary herpes infection to recurrent forms, among them chronic mucocutaneous herpes. This presentation is rare, characterized by a duration of more than four weeks, usually associated with immunosuppression and resistance to classic anti-herpetic treatment. The present study presents a series of ten cases of chronic mucocutaneous herpes with a discussion about its clinical, laboratory, and therapeutic aspects.

4.
An. bras. dermatol ; 95(5): 641-644, Sept.-Oct. 2020. tab, graf
Article in English | LILACS, ColecionaSUS | ID: biblio-1130931

ABSTRACT

Abstract Genital lesions are an unusual presentation of American cutaneous leishmaniasis. Conditions such as disseminated cutaneous leishmaniasis and HIV infection may be associated with genital involvement. The authors present five cases of American cutaneous leishmaniasis with genital lesions and discuss the clinical and epidemiological aspects observed in this case series.


Subject(s)
Humans , Leishmania braziliensis , Leishmaniasis, Mucocutaneous , HIV Infections , Leishmaniasis, Cutaneous/diagnosis , Leishmaniasis, Cutaneous/epidemiology , United States , Genitalia
5.
Med. UIS ; 33(2): 95-100, mayo-ago. 2020. graf
Article in Spanish | LILACS | ID: biblio-1346450

ABSTRACT

Resumen La presencia de una masa en la región escrotal comprende un amplio espectro de patologías, unas con mayor urgencia para el manejo que otras, dado el riesgo asociado de pérdida testicular o desarrollo de cáncer. Dentro de las posibilidades diagnósticas se encuentran las neoplasias, destacando las originadas en el epidídimo, con un 75% de casos de etiología benigna, correspondiendo un 9% al cistoadenoma papilar de epidídimo que sobresale por su baja frecuencia dado que en la literatura mundial existen aproximadamente 70 reportes publicados con escasos provenientes de literatura médica en castellano, en los que se incluye el presente caso expuesto en el que se confirma histopatológicamente un cistoadenoma papilar de epidídimo y se presenta una revisión del tema acerca del enfoque de un paciente con masa escrotal. Asimismo se resalta el hecho de que esta lesión puede asociarse con la enfermedad de Von Hippel Lindau, sobre todo en presentaciones bilaterales. MÉD.UIS. 2020;33(2):95-100.


Abstract The presence of a mass in the scrotal region comprises a wide spectrum of pathologies, some with greater urgency for management than others, given the associated risk of testicular loss or cancer development. Among the diagnostic possibilities are the neoplasms, highlighting those originating in the epididymis, with 75% of cases of benign etiology, 9% corresponding to the papillary cystadenoma of the epididymis that stands out for its low frequency given that in the world literature there are approximately 70 published reports with few from medical literature in Spanish, which include the present case presented in which a papillary cystadenoma of the epididymis is confirmed histopathologically and a review of the topic about the approach of a patient with scrotal mass is presented. Also the fact that this lesion can be associated with von Hippel Lindau disease, especially in bilateral presentations is highlighted. MÉD.UIS. 2020;33(2):95-100.


Subject(s)
Humans , Male , Adult , Cystadenoma, Papillary , Colombia , Epididymis , Genital Diseases, Male , Neoplasms
6.
Rev Assoc Med Bras (1992) ; 66(4): 479-484, 2020. tab, graf
Article in English | SES-SP, LILACS | ID: biblio-1136241

ABSTRACT

SUMMARY OBJECTIVE We aimed to determine whether atherogenic dyslipidemia is associated with the disease and morbidity in our patients treated for Fournier's gangrene (FG). METHODS Sixty-two patients who were treated with the diagnosis of FG at our center between 2012 and 2017 were retrospectively screened. RESULTS The triglyceride values of the patients who required reconstructive surgery were statistically significantly higher than those of the patients for whom wound debridement and primary suturing was sufficient (p:0.001). A total of 65.7% of the patients had normal triglyceride values in the group in which wound debridement and primary suturing was sufficient, while this rate was 22.2% in the group of patients who needed reconstructive surgery; the difference was statistically significant (p: 0.002). The UFGSI score of those with triglyceride values higher than the normal range was statistically significantly higher (p:0.006). The cut-off point for the triglyceride value for which Fournier's gangrene was more morbid and the probability of reconstructive surgery need was significantly higher, i.e., >233mg. CONCLUSION Our study has demonstrated that atherogenic dyslipidemia, especially hypertriglyceridemia, is an important factor affecting morbidity and associated with high patient care costs after hospitalization and discharge in FG.


RESUMO OBJETIVO Nosso objetivo foi determinar se as dislipidemias aterogênicas estão associadas à doença e à morbidade em nossos pacientes tratados para a gangrena de Fournier (GF). MÉTODOS Sessenta e dois pacientes tratados com o diagnóstico de GF em nosso centro entre 2012 e 2017 foram selecionados retrospectivamente. RESULTADOS Os valores de triglicérides dos pacientes que necessitaram de cirurgia reconstrutiva foram estatisticamente significativamente maiores em comparação com aqueles dos pacientes nos quais o desbridamento da ferida e a sutura primária foram suficientes (p:0,001); 65,7% dos pacientes apresentaram valores normais de triglicérides no grupo em que desbridamento da ferida e sutura primária foram suficientes, enquanto que essa taxa foi de 22,2% no grupo de pacientes que necessitaram de cirurgia reconstrutiva, e a diferença foi estatisticamente significativa (p:0,002). O escore UFGSI daqueles com valores de triglicerídeos acima da faixa normal foi estatisticamente significativamente maior (p:0,006). O ponto de corte para o valor de triglicérides pelo qual a gangrena de Fournier era mais mórbida e a probabilidade de necessidade de cirurgia reconstrutiva era significativamente maior foi >233 mg. CONCLUSÃO Nosso estudo demonstrou que a dislipidemia aterogênica, especialmente a hipertrigliceridemia, é um fator importante que afeta a morbidade e os altos custos associados ao cuidado do paciente após hospitalização e alta na GF.


Subject(s)
Humans , Fournier Gangrene , Dyslipidemias , Severity of Illness Index , Retrospective Studies
7.
Rev. Fac. Med. (Bogotá) ; 66(4): 635-638, Oct.-Dec. 2018. graf
Article in English | LILACS | ID: biblio-985105

ABSTRACT

Abstract Introduction: Penile fracture is a rare urological emergency associated in up to 30% of cases with injury to the anterior urethra. Recent data suggest that early surgical intervention is the best treatment strategy. This investigation describes a case of bilateral corpora cavernosa injury associated with complete rupture of the anterior urethra and presents current concepts about its management. Case presentation: 39-year-old man with bilateral corpora cavernosa injury and complete rupture of the anterior urethra, who received early surgical treatment with satisfactory early clinical outcomes. A literature review was made in PubMed and Embase, limiting the search to scientific articles published in the past 10 years using the MeSH terms "Penile diseases", "Genital diseases, male", "Wounds and injuries". Some references were included given their clinical relevance. In this case, similar to international experiences, early surgical management of corpora cavernosa fractures allowed achieving adequate clinical outcomes in the patient. Conclusions: The diagnosis of penile fracture is based on clinical findings. Early surgical management should be considered as a therapy of choice. Conservative management has a higher complication rate versus early surgical management. The case described here had an adequate clinical evolution after 3 months of follow-up.


Resumen Introducción. La fractura de cuerpos cavernosos es una urgencia urológica que se asocia hasta en 30% de los casos a lesión de la uretra anterior. Datos recientes postulan la intervención quirúrgica temprana como la mejor estrategia de tratamiento. La presente investigación describe un caso de lesión bilateral de cuerpos cavernosos asociada a sección completa de uretra anterior y define conceptos actuales sobre su manejo. Presentación del caso. Hombre de 39 años con fractura bilateral de cuerpos cavernosos y sección completa de uretra anterior, quien recibió tratamiento quirúrgico temprano con resultados clínicos tempranos satisfactorios. Se realizó una revisión de la literatura en PubMed y Embase limitando la búsqueda a artículos científicos publicados en los últimos 10 años y utilizando los términos MeSH "Penile diseases", "Genital diseases, male", "Wounds and injuries". Algunas referencias fueron incluidas dada su relevancia clínica. De forma similar a experiencias internacionales, el manejo quirúrgico temprano de la fractura de cuerpos cavernosos en este caso permitió desenlaces clínicos adecuados en el paciente. Conclusiones. El diagnóstico de la fractura de pene se basa en hallazgos clínicos; el manejo quirúrgico temprano debe considerarse como la terapia de elección para esta entidad. El tratamiento conservador presenta una mayor tasa de complicaciones versus el manejo quirúrgico temprano. El caso descrito presenta buenos desenlaces post-operatorios a corto plazo.

8.
São Paulo med. j ; 135(2): 185-189, Mar.-Apr. 2017. tab, graf
Article in English | LILACS | ID: biblio-846296

ABSTRACT

ABSTRACT CONTEXT: Lymphedema consists of extracellular fluid retention caused by lymphatic obstruction. In chronic forms, fat and fibrous tissue accumulation is observed. Genital lymphedema is a rare condition in developed countries and may have primary or acquired etiology. It generally leads to urinary, sexual and social impairment. Clinical treatment usually has low effectiveness, and surgical resection is frequently indicated. CASE REPORT: We report a case of a male-to-female transgender patient who was referred for treatment of chronic genital lymphedema. She had a history of pelvic radiotherapy to treat anal cancer and of liquid silicone injections to the buttock and thigh regions for esthetic purposes. Radiological examinations showed signs both of tissue infiltration by liquid silicone and of granulomas, lymphadenopathy and lymphedema. Surgical treatment was performed on the area affected, in which lymphedematous tissue was excised from the scrotum while preserving the penis and testicles, with satisfactory results. Histopathological examination showed alterations compatible with tissue infiltration by exogenous material, along with chronic lymphedema. CONCLUSION: Genital lymphedema may be caused by an association of lesions due to liquid silicone injections and radiotherapy in the pelvic region. Cancer treatment decisions for patients who previously underwent liquid silicone injection should take this information into account, since it may represent a risk factor for radiotherapy complications.


RESUMO CONTEXTO: O linfedema consiste de retenção de fluido extracelular causada por obstrução linfática. Nas formas crônicas, observa-se acúmulo de tecido adiposo e fibrose. O linfedema genital é uma doença rara em países desenvolvidos e pode ter etiologia primária ou adquirida, em geral cursando com disfunções urinária e sexual, bem como com prejuízo do convívio social. O tratamento clínico é, em geral, pouco efetivo, indicando-se com frequência a abordagem cirúrgica, com excisão da área afetada. RELATO DE CASO: Relata-se o caso de paciente feminina transgênero, encaminhada para tratamento de linfedema genital crônico. Havia antecedente pessoal de tratamento de câncer de canal anal com radioterapia pélvica e de injeções de silicone líquido em glúteos e coxas com finalidade estética. Exames radiológicos mostraram tanto sinais de infiltração tecidual por silicone líquido como granulomas e linfadenopatia como de linfedema. Foi realizado o tratamento cirúrgico da área afetada, com excisão do tecido linfadenomatoso do escroto, preservando o pênis e testículos, com resultado satisfatório. A análise histopatológica mostrou achados compatíveis com infiltração tecidual por material exógeno, bem como com linfedema crônico. CONCLUSÃO: O linfedema genital pode ser causado pela associação de lesão por injeção de silicone líquido e radioterapia na região pélvica. As decisões no tratamento de neoplasias em pacientes previamente submetidos a injeção de silicone líquido devem levar em conta esse fato, já que pode representar fator de risco para complicações de tratamento radioterápico.


Subject(s)
Humans , Male , Female , Penile Diseases/etiology , Silicones/adverse effects , Transgender Persons , Lymphedema/etiology , Penile Diseases/surgery , Penile Diseases/diagnostic imaging , Surgical Flaps , Magnetic Resonance Spectroscopy , Lymphedema/surgery , Lymphedema/diagnostic imaging
9.
An. bras. dermatol ; 90(2): 255-257, Mar-Apr/2015. graf
Article in English | LILACS | ID: lil-741072

ABSTRACT

A 70-year-old male presenting a 3-month history of genital painless erythematous nodules in the balanopreputial sulcus was referred to our service. Histopathological exam presented a chronic dermatitis with epithelioid granulomas and Grocott staining revealed numerous fungal structures with a suggestive morphology of Histoplasma sp. Cultures evidenced Histoplasma capsulatum var. capsulatum. Treatment with oral itraconazole led to complete remission of lesions.


Subject(s)
Aged , Humans , Male , Dermatomycoses/pathology , Histoplasmosis/pathology , Immunocompetence , Penile Diseases/pathology , Antifungal Agents/therapeutic use , Biopsy , Dermatomycoses/drug therapy , Dermatomycoses/immunology , Histoplasma , Histoplasmosis/drug therapy , Histoplasmosis/immunology , Immunocompetence/immunology , Itraconazole/therapeutic use , Penile Diseases/drug therapy , Penile Diseases/immunology , Treatment Outcome
10.
An. bras. dermatol ; 89(2): 236-240, Mar-Apr/2014. tab, graf
Article in English | LILACS | ID: lil-706969

ABSTRACT

BACKGROUND: Genital warts are caused by human papillomavirus infection and represent one of the most common sexually transmitted diseases. Many infections are transient but the virus may recur, persist, or become latent. To date, there is no effective antiviral treatment to eliminate HPV infection and most therapies are aimed at the destruction of visible lesions. Potassium hydroxide is a strong alkali that has been shown to be safe and effective for the treatment of genital warts and molluscum contagiosum. Cryotherapy is considered one of the most established treatments for genital warts. No comparative trials have been reported to date on the use of potassium hydroxide for genital warts. OBJECTIVE: A prospective, open-label, randomized clinical trial was conducted to compare topical potassium hydroxide versus cryotherapy in the treatment of genital warts affecting immunocompetent, sexually active men. METHODS: Over a period of 10 months, 48 patients were enrolled. They were randomly divided into two groups and selected on an alternative basis for either potassium hydroxide therapy or cryotherapy. While response to therapy did not differ substantially between both treatment modalities, side effects such as local pain and post-treatment hypopigmentation were considerably more prevalent in the groups treated using cryotherapy. Result: In our study, potassium hydroxide therapy proved to be at least as effective as cryotherapy and offered the benefit of a better safety profile. CONCLUSION: Topical 5% potassium hydroxide presents an effective, safe, and low-cost treatment modality for genital warts in men and should be included in the spectrum of therapies for genital warts. .


Subject(s)
Adolescent , Adult , Aged , Humans , Male , Middle Aged , Young Adult , Condylomata Acuminata/therapy , Cryotherapy/methods , Dermatologic Agents/administration & dosage , Genital Diseases, Male/therapy , Hydroxides/administration & dosage , Potassium Compounds/administration & dosage , Administration, Topical , Chi-Square Distribution , Dose-Response Relationship, Drug , Dermatologic Agents/therapeutic use , Follow-Up Studies , Hydroxides/therapeutic use , Prospective Studies , Potassium Compounds/therapeutic use , Reproducibility of Results , Treatment Outcome
11.
São Paulo med. j ; 132(2): 73-79, 2014. tab
Article in English | LILACS | ID: lil-705376

ABSTRACT

OBJECTIVE: To estimate the prevalence of and risk factors for cutaneous lesions of the scrotum and intrascrotal lesions/anomalies among men included in a prostatic cancer screening program in a Brazilian metropolitan city. DESIGN AND SETTING: Cross-sectional study, private outpatient healthcare service. METHODS: 1731 men aged 40 years or over, participating in a prostate cancer screening program conducted by the municipal public employees' healthcare system, underwent systematic urological assessment by a single examiner. RESULTS: The prevalence of scrotal diseases in our sample was 44.7% (773/1731). Tinea cruris occurred in 203 (11.7%) of the participants, with higher risk among diabetics and lower prevalence among nonwhite individuals; scrotal tinea in eight (0.5%), with higher risk among hypertensive men; subcutaneous nodules in 12 (0.7%), especially in individuals with low schooling level; hydrocele in 283 (16.4%), with higher frequency among participants over the age of 60 years, diabetics or individuals with previous histories of nonspecific urethritis; spermatoceles in 174 (10.1%), with greater prevalence among individuals over the age of 60 years or diabetics, and lower frequency among individuals who underwent vasectomy; unilateral testicular hypotrophy/atrophy in 167 (9.7%) and bilateral hypotrophy/atrophy in 93 (5.4%), both occurring more frequently in individuals over the age of 60 years; absence of palpable testicles due to cryptorchidism in 7 (0.4%); and epididymitis/orchitis in 5 (0.3%), with higher prevalence among diabetics. No cases of cancer were identified in this sample. CONCLUSIONS: Scrotal diseases were highly prevalent in this population of Brazilian men. .


OBJETIVO: Estimar a prevalência e fatores de risco de lesões cutâneas do escroto e de lesões/anomalias intraescrotais entre participantes de programa de rastreamento para câncer de próstata em uma cidade metropolitana brasileira. TIPO DE ESTUDO E LOCAL: Estudo transversal, serviço privado de atendimento ambulatorial à saúde. MÉTODOS: 1.731 homens com idade igual ou superior a 40 anos, participantes do programa de rastreamento de câncer de próstata conduzido pelo sistema de saúde dos funcionários públicos municipais, foram submetidos à avaliação urológica sistemática por um único examinador. RESULTADOS: A prevalência de doenças escrotais nossa amostra foi de 44.7% (773/1731). Tinea cruris ocorreu em 203 (11,7%) dos participantes, com maior risco em diabéticos e menor prevalência em indivíduos não brancos; tinea escrotal em oito (0,5%), com maior risco em homens hipertensos; nódulos subcutâneos em 12 (0,7%), especialmente em indivíduos com baixa escolaridade; hidrocele em 283 (16,4%), com maior frequência nos participantes com mais de 60 anos, diabetes ou história prévia de uretrite inespecífica; espermatoceles em 174 (10,1%), com maior prevalência acima dos 60 anos de idade ou com diabetes, e menor frequência naqueles submetidos a vasectomia; hipotrofia/atrofia testicular unilateral em 167 (9,7%) e hipotrofia/atrofia bilateral em 93 (5,4%), ambas ocorrendo mais frequentemente nos indivíduos com mais de 60 anos; ausência de testículos palpáveis devido à criptorquidia em 7 (0,4%); e epididimite/orquite em 5 (0,3%), com prevalência aumentada em diabéticos. Não foram identificados casos de câncer nesta amostra. CONCLUSÕES: As doenças escrotais foram altamente prevalentes nesta população ...


Subject(s)
Adult , Humans , Male , Middle Aged , Genital Diseases, Male/epidemiology , Genital Diseases, Male/etiology , Scrotum , Age Distribution , Age Factors , Brazil/epidemiology , Cross-Sectional Studies , Diabetes Complications , Hypertension/complications , Prevalence , Risk Factors , Socioeconomic Factors , Tinea/complications , Urethritis/complications , Vasectomy/adverse effects
12.
An. bras. dermatol ; 86(3): 585-586, maio-jun. 2011. ilus
Article in Portuguese | LILACS | ID: lil-592159

ABSTRACT

Os autores apresentam imagens de duas formas clínicas mais frequentes da Donovanose, em ambos sexos. A donovanose é considerada uma doença sexualmente transmissível, endêmica nas regiões tropicais e semitropicais do globo. Apresentam também imagens de duas lâminas: uma da pesquisa direta (corpúsculos de Donovan, dentro de grandes células mononucleadas coradas de vermelho pelo Giemsa) e outra de achados histológicos típicos (formato de alfinete dentro do histiócito).


The authors present images of two of the most common clinical forms of granuloma inguinale (donovanosis) in males and females. Donovanosis is considered a sexually transmitted disease that is endemic in tropical and subtropical regions of the world. Two microscopic images are also shown, one of a direct smear (the presence of Donovan bodies within large mononuclear cells identified using Giemsa stain) and the other of typical histological findings (rod-shaped Donovan bodies within a mononuclear histiocyte).


Subject(s)
Female , Humans , Male , Calymmatobacterium , Granuloma Inguinale/pathology , Azure Stains , Staining and Labeling
13.
São Paulo; s.n; 2009. [138] p. ilus, tab.
Thesis in Portuguese | LILACS | ID: lil-587186

ABSTRACT

Introdução: O termo distúrbios do desenvolvimento gonadal (DDG) inclui condições congênitas nas quais o desenvolvimento gonadal é atípico. Estudos feitos em camundongos observaram que alguns genes como o Cbx2 e o Tcf21 interferem na fase inicial do desenvolvimento gonadal, afetando tanto gônadas XX quanto XY. O gene Dhh, por sua vez, codifica o fator de transcrição Dhh, produzido pelas células de Sertoli, que é fundamental para a diferenciação das células de Leydig em gônadas XY. Nos ovários, o gene FOXL2 atua na foliculogênese, sendo fundamental para a formação dos ovários. Objetivos: Analisar clinicamente e pesquisar anormalidades nos genes CBX2, TCF21, DHH e FOXL2 em pacientes portadores de distúrbios do desenvolvimento gonadal 46, XY e 46, XX. Material e Métodos: Foram estudados 60 pacientes (41 com DDG 46, XY e 19 com DDG 46, XX). A análise molecular foi realizada a partir da amplificação gênica por PCR e sequenciamento direto. Resultados: Várias alterações alélicas foram encontradas nos quatro genes, algumas ainda não descritas na literatura. Uma alteração intrônica no gene DHH foi encontrada em um paciente com DDG 46, XY e não foi encontrada em nenhum dos 360 alelos normais estudados (g.IVS2 +29G>A). Estudamos essa variante através da extração do RNA do testículo do paciente afetado, mas não encontramos alteração no RNA; portanto ela parece não ser uma mutação. No gene TCF21, a variante encontrada foi identificada em controles normais. No gene CBX2, das treze alterações encontradas, uma não foi identificada em 206 alelos normais, e há troca de aminoácidos (p.C132R / g.394 T>C). Trata-se de uma variante que pode ter relação com o fenótipo do paciente, portador de DDG 46, XY. No gene FOXL2, das três alterações encontradas, uma não foi identificada em 206 alelos normais; contudo, não há troca de aminoácidos (p.A181A / g.543 C>T). Conclusão: Esse estudo sugere que mutações nos genes CBX2, TCF21, FOXL2 e DHH são causas raras de distúrbios do desenvolvimento...


Introduction: Congenital disorders of gonadal development (DGD) include conditions whose gonadal development is atypical. Studies in mice found that some genes such as Cbx2 and Tcf21 interfere in the initial phase of gonadal development, affecting both XX and XY gonads. Dhh gene, in turn, encodes the transcription factor Dhh, produced by Sertoli cells, which is essential for the differentiation of Leydig cells in XY gonads. In the ovaries, genes as FOXL2 act in folliculogenesis, fundamental to the development of the ovaries. Objectives: To analyze patients with disorders of gonadal development (DGD) 46, XY and 46, XX and research mutations in CBX2, TCF21, DHH and FOXL2 genes. Methods: We analyzed 60 patients (41 DGD 46, XY patients and 19 DGD 46, XX patients). The whole coding region of CBX2, TCF21, DHH and FOXL2 genes were amplified by PCR and direct sequenced. Results: Several allelic variations have been found in the four genes, some not even described by literature. One intronic variation in DHH was described in one patient with 46, XY DGD and it wasnt found in any of the 360 normal control alleles studied (g.IVS2 +29G>A). We studied this variant through RNA extraction from the affected patients testes, but we didnt find any alteration in the RNA, so it doesnt seem to be a mutation. In TCF21 gene, the single variant that was found was identified in normal controls. In CBX2 gene, among the 13 alterations described, one wasnt identified in 206 normal control alleles, and there is aminoacid change (p.C132R / g.394 T>C). This is a variant that may be a mutation, causing the patients phenotype that had 46, XY DGD. In FOXL2, among the 3 variations described, one wasnt indentified in 206 normal control alleles, but there wasnt amino acid change (p.A181A / g.543 C>T).Conclusion: This study suggests that mutations in CBX2, TCF21, FOXL2 and DHH genes are rarely causes of disorders of gonadal development.


Subject(s)
Humans , Male , Female , Amenorrhea , Genital Diseases, Male/genetics , Germ-Line Mutation , Gonadal Disorders , Sexual Development , Sexual Infantilism
14.
Rev. cuba. med. gen. integr ; 14(1): 5-14, ene.-feb. 1998.
Article in Spanish | LILACS | ID: lil-628954

ABSTRACT

Se expone la causa de las lesiones en los genitales externos según 3 grandes grupos clasificatorios y se indican en cada caso las manifestaciones clínicas más importantes y los medios de diagnóstico específicos. Se muestra una guía práctica para el correcto enfoque diagnóstico y la conducta que debe seguir el médico de la familia.


The cause of the geniatalia lesions is exposed according to three large classificatory groups. The most important clinical manifestations as well as the specific diagnostic tools are indicated for each case. A practical guide for the proper diagnostic approach and for the behavior the family physician should follow is shown.

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