Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 3 de 3
Filtrar
Mais filtros








Base de dados
Intervalo de ano de publicação
1.
Artigo em Polonês | MEDLINE | ID: mdl-18042318

RESUMO

Many surveys have indicated that short stature affects at least 95% of all patients with Turner syndrome (TS). It is also clear that growth hormone (GH) therapy can accelerate the physical development in girls with TS. According to some clinical experience diabetes type 1 may be considered as a contraindication for GH therapy leading to low efficacy and high risk of late complications due to hyperglycaemia and elevated IGF-1 level. We present the results of growth hormone therapy on the metabolic control in a girl with TS and type 1 diabetes treated with continuous subcutaneous insulin infusion. The parameters of metabolic control and insulin doses were compared before and after introducing GH therapy. The correct diurnal glycemia profile was obtained after 4-fold increase of basal insulin and 2-fold increase of the total daily dose. The acceleration of growth was observed during 3.5-year therapy and average linear growth velocity was 7 cm/year. Growth hormone administration in children with Turner syndrome and type 1 diabetes can be efficacious and safe.


Assuntos
Glicemia/efeitos dos fármacos , Diabetes Mellitus Tipo 1/tratamento farmacológico , Hormônio do Crescimento Humano/administração & dosagem , Proteínas Recombinantes/administração & dosagem , Síndrome de Turner/tratamento farmacológico , Adolescente , Estatura/efeitos dos fármacos , Diabetes Mellitus Tipo 1/sangue , Diabetes Mellitus Tipo 1/complicações , Feminino , Humanos , Hipoglicemiantes/administração & dosagem , Insulina/administração & dosagem , Insulina/sangue , Resultado do Tratamento , Síndrome de Turner/sangue , Síndrome de Turner/complicações
2.
Horm Res ; 59(4): 205-10, 2003.
Artigo em Inglês | MEDLINE | ID: mdl-12649576

RESUMO

OBJECTIVE: We present the 1st case of prepubertal hyperandrogenism because of a defect in the conversion of cortisone (E) to cortisol (F) by hepatic 11beta-hydroxysteroid dehydrogenase type 1. METHODS AND RESULTS: Clinical and anthropometric data were obtained. Serum androgens and gonadotropins with luteinizing hormone releasing hormone stimulation test, dexamethasone suppression test, and corticotropin-releasing hormone stimulation test were evaluated. Adrenal imaging and urinary steroid profiling by gas chromatography/mass spectrometry were employed. A 6.9-year-old boy presented with precocious pubarche, height (+2.6 SD), accelerated bone age (11.5 years), and Tanner stage 2 pubic hair and genitalia. Serum androgen levels were elevated and dexamethasone suppressible. Serum F was normal, but the E concentration was increased. Central precocious puberty and congenital adrenal hyperplasia were excluded. The excretion of androgen metabolites was moderately increased, but a highly increased tetrahydrocortisone (THE) and a diminished tetrahydrocortisol (THF + allo-THF) excretion was found with a [THF + allo-THF/ THE] ratio of 0.032 (normal controls 1.05 +/- 0.17). The corticotropin-releasing hormone stimulation test showed an exaggerated adrenocorticotropic hormone response, suggesting a relative deficiency of F. Two months of hydrocortisone treatment (17.5 mg daily) failed to suppress androgens adequately. Treatment with dexamethasone (0.375 mg/daily) resulted in androgen suppression. CONCLUSIONS: In the case of precocious pubarche and accelerated growth, the diagnosis of 11beta-hydroxysteroid dehydrogenase type 1 deficiency ('apparent cortisone reductase deficiency') should be considered. The diagnosis is based on determinations of urinary steroid metabolites.


Assuntos
Cortisona Redutase/deficiência , Hidroxiesteroide Desidrogenases/deficiência , 11-beta-Hidroxiesteroide Desidrogenase Tipo 1 , Determinação da Idade pelo Esqueleto , Criança , Dexametasona/uso terapêutico , Diagnóstico Diferencial , Glucocorticoides/uso terapêutico , Transtornos do Crescimento/etiologia , Humanos , Hiperandrogenismo/tratamento farmacológico , Hiperandrogenismo/etiologia , Masculino , Erros Inatos do Metabolismo/complicações , Erros Inatos do Metabolismo/diagnóstico , Puberdade Precoce/etiologia
3.
J Androl ; 24(2): 270-8, 2003.
Artigo em Inglês | MEDLINE | ID: mdl-12634315

RESUMO

The study consisted of 46 intersexual patients who underwent gonadectomy at the age of 3 months to 19 years because of gonadal dysgenesis (GD; 40 cases) or true hermaphroditism (bisexual gonads; 6 cases). In patients with GD, the incidence of the 46,XY karyotype was 67.5%, whereas the remaining patients exhibited numerical and structural aberrations of sex chromosomes (NSASs), and all patients with bisexual gonads revealed NSAS. Seminoma was diagnosed in 1 patient with the 46,XY karyotype and pure GD (streak gonads). Intratubular carcinoma in situ (CIS) appeared as an exclusive lesion in 61.5% of 13 patients with mixed GD, in 54% of 11 patients with partial GD (bilateral testes), in 16.7% of 6 patients with bisexual gonads, and in none of 13 patients with pure GD. CIS also appeared in tubules in the vicinity of sex cord-derived tumors (gonadoblastoma nests and unclassified mixed germ cell-sex cord-stromal tumor; MGCSCST) and within the tumors. In 3 patients, gonadoblastoma replaced the whole bilateral gonads and is referred to as gonadoblastoma-only GD. The incidence of neoplastic lesions (mostly bilateral) was 90.9% in patients with partial GD, 76.9% (mostly unilateral) in patients with mixed GD, 23.1% (unilateral) in patients with pure GD, and 16.7% (unilateral) in patients with bisexual gonads. Disregarding types of disturbances of gonadal organogenesis, the incidence of lesions was 71.4% in 28 patients with the 46,XY karyotype and 35.3% in 17 patients with NSAS. We conclude, first, that NSAS is not a prerequisite for the appearance of GD and GD is more frequently associated with the 46,XY karyotype. Second, the spectrum of germ cell neoplastic lesions in GD is wider than reported. Besides germ cell carcinoma, CIS, and gonadoblastoma nests, the spectrum also includes a tumor of gonadoblastoma-only in cases of GD and MGCSCST. Third, the incidence of neoplastic lesions is related more to the severity of the disturbances of gonadal organogenesis than it is to aberrations in sex chromosomes. Fourth, less disturbed testicular organogenesis predisposes these patients more toward germ cell neoplastic lesions, which suggests that the testicular environment of a dysgenetic gonad plays an important role in germ cell neoplasia initiation, maintenance, or both.


Assuntos
Carcinoma in Situ/patologia , Transtornos do Desenvolvimento Sexual/patologia , Gonadoblastoma/patologia , Neoplasias Testiculares/patologia , Adolescente , Carcinoma in Situ/epidemiologia , Carcinoma in Situ/genética , Criança , Pré-Escolar , Aberrações Cromossômicas , Cromossomos Humanos X , Cromossomos Humanos Y , Transtornos do Desenvolvimento Sexual/epidemiologia , Transtornos do Desenvolvimento Sexual/genética , Feminino , Disgenesia Gonadal/epidemiologia , Disgenesia Gonadal/genética , Disgenesia Gonadal/patologia , Gonadoblastoma/epidemiologia , Gonadoblastoma/genética , Humanos , Incidência , Lactente , Masculino , Ovário/anormalidades , Ovário/patologia , Tumores do Estroma Gonadal e dos Cordões Sexuais/epidemiologia , Tumores do Estroma Gonadal e dos Cordões Sexuais/genética , Tumores do Estroma Gonadal e dos Cordões Sexuais/patologia , Neoplasias Testiculares/epidemiologia , Neoplasias Testiculares/genética , Testículo/anormalidades , Testículo/patologia
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA