Assuntos
Carcinoma Hepatocelular/patologia , Neoplasias Gastrointestinais/patologia , Tumores do Estroma Gastrointestinal/patologia , Neoplasias Hepáticas/patologia , Neoplasias Primárias Múltiplas/patologia , Aspiração por Agulha Fina Guiada por Ultrassom Endoscópico , Humanos , Masculino , Pessoa de Meia-Idade , Metástase Neoplásica , Tomografia por Emissão de PósitronsRESUMO
Calcifying pseudoneoplasm of neuraxis (CAPNON) is a rare but distinctive lesion of the central nervous system. These are benign lesions that mimic ossified vascular lesions clinically and radiologically, and can be cured by complete resection. We report a case in a 48 year old male with complex partial seizures who had a right temporobasal calcified lesion that clinically and radiologically mimicked an oligodendroglioma. Histopathology revealed a large necrotic lobulated mass with admixture of chondromyxoid zones, nodular fibrovascular stroma, metaplastic calcification and ossification in varying proportions.
Assuntos
Encefalopatias/patologia , Calcinose/patologia , Encefalopatias/cirurgia , Calcinose/cirurgia , Diagnóstico Diferencial , Humanos , Masculino , Pessoa de Meia-Idade , Oligodendroglioma/diagnósticoRESUMO
Familial male pseudohermaphroditism (MPH) due to 17,20-desmolase deficiency is rare. Here we present two siblings with MPH possibly due to 17,20-desmolase deficiency. The first patient presented with unambiguous female external genitalia and hypergonadotrophic hypogonadism. Chromosomal analysis revealed 46 XY. Ultrasound evaluation of pelvis revealed gonads in the inguinal canal, and no uterus. These findings were confirmed on laparotomy. Histology revealed the gonads to be testes. The second patient had ambiguous genitalia (perineoscrotal hypospadias, bifid scrotum with palpable gonads) with a 46 XY chromosomal pattern. Both patients had high plasma 17-hydroxy progestrone (17 OHP), low normal dehydro epiandrosterone sulphate (DHEAS) and low plasma testosterone. Plasma testosterone and DHEAS showed no response to ACTH or HCG. These features are compatible with the diagnosis of 17,20-desmolase deficiency.
Assuntos
Enzima de Clivagem da Cadeia Lateral do Colesterol/metabolismo , Transtornos do Desenvolvimento Sexual/enzimologia , Transtornos do Desenvolvimento Sexual/genética , Adolescente , Adulto , Enzima de Clivagem da Cadeia Lateral do Colesterol/deficiência , Transtornos do Desenvolvimento Sexual/cirurgia , Feminino , Seguimentos , Humanos , Hidrocortisona/análise , Hidrocortisona/sangue , Masculino , Testosterona/análise , Testosterona/sangue , Resultado do TratamentoRESUMO
BACKGROUND: Understanding the process of sex determination has been aided by the molecular analysis of individuals whose karyotype does not correspond to their phenotype, 46, XX males and 46, XY females. CASES: We studied the clinical and molecular data on six 46, XY females of Indian ethnic origin. In each subject, cytogenetic analysis indicated a 46, XY karyotype without mosaicism. In four of the cases DNA studies were performed on the sex-determining region, Y chromosome gene. A de novo point mutation was identified in one subject. CONCLUSION: Our data provide additional evidence for genetic heterogeneity in the etiology of 46, XY gonadal dysgenesis.
Assuntos
DNA/genética , Disgenesia Gonadal 46 XY/genética , Adolescente , Adulto , DNA/análise , Feminino , Disgenesia Gonadal 46 XY/diagnóstico , Disgenesia Gonadal 46 XY/etiologia , Humanos , Índia/etnologia , Cariotipagem , Mutação , Fenótipo , Reação em Cadeia da Polimerase , População BrancaRESUMO
True hermaphrodites are identified from the presence of ambiguous genitalia with both ovarian and testicular tissue. Two cases presented below had a 46,XX chromosome pattern, cryptorchidism and undescended testes. Both cases showed an absence of secondary sexual characteristics and presence of bilateral breasts and a uterus. The gonads in case 1 were an ovotestis and testis (left side) and in case 2 were an ovary and testis (right side). Case 1 was analyzed for a sex-determining region on the Y chromosome (SRY) and was negative. Phenotypic, gonadal and molecular studies suggest that 46,XX true hermaphroditism is a genetically heterogeneous condition.
Assuntos
Criptorquidismo/genética , Transtornos do Desenvolvimento Sexual/genética , Heterogeneidade Genética , Disgenesia Gonadal 46 XY/genética , Adolescente , Adulto , Criptorquidismo/complicações , Criptorquidismo/diagnóstico , Criptorquidismo/epidemiologia , Criptorquidismo/patologia , Transtornos do Desenvolvimento Sexual/complicações , Transtornos do Desenvolvimento Sexual/diagnóstico , Transtornos do Desenvolvimento Sexual/epidemiologia , Transtornos do Desenvolvimento Sexual/patologia , Disgenesia Gonadal 46 XY/complicações , Disgenesia Gonadal 46 XY/diagnóstico , Disgenesia Gonadal 46 XY/patologia , Humanos , Masculino , FenótipoRESUMO
Transsexuals are usually found to have a normal chromosome complement. The literature to date documents four transsexuals with 47,XYY pattern. This paper reports a fertile male with major cell line of 47,XYY and a gender identity disorder.
Assuntos
Transexualidade/genética , Cariótipo XYY/genética , Adulto , Identidade de Gênero , Humanos , Índia , Masculino , Comportamento Sexual , Transexualidade/psicologia , Cariótipo XYY/psicologiaRESUMO
An 18-year-old girl presented with primary amenorrhea and absence of secondary sexual characteristics. She had gonadal dysgenesis, clitoromegaly, absence of the vagina and a 46,XY chromosome pattern.
