[PDF] Top 20 Arq Bras Endocrinol Metab vol.54 número8

... A síndrome do homem XX é uma condição rara na qual o fenótipo da genitália externa pode variar de uma genitália ambígua até uma genitália masculina normal. Este estudo tem por obje- tivo relatar a avaliação hormonal, ... See full document

... The objective of this study was to describe a new mutation in GNAS in a family with pseudo- hypoparathyroidism type Ia (PHP Ia), a rare osteometabolic disease. An 8-month-old boy was seen by an Endocrinologist due to ... See full document

... pelo gene HSD3B2, é importante na biossíntese de todas as classes de hormônios esteroides. As mutações no gene HSD3B2 podem causar deficiência da 3β-HSD2 da forma clássica. É de he- rança autossômica recessiva e uma das ... See full document

... bone age was 10 years. Prolactin was 10.560 ng/mL (3-25), FSH and LH were undetectable, IGF-1, TSH, Free T4, ACTH, and cortisol were within normal ranges. MRI showed a pituitary macroadeno- ma, 5.3 X 4.0 X 3.5 cm with ... See full document

... A neoplasia endócrina múltipla tipo 1 (NEM1) é uma doença hereditária autossômica domi- nante, caracterizada principalmente por tumores de paratireoide, enteropancreáticos e adeno- -hipofisários. Apresentamos o caso de ... See full document

... O gene SRY, localizado no cromossomo Y, codifica uma proteína testículo-específica conten- do um domínio HMG (grupo de alta mobilidade) de ligação ao DNA. No entanto, mutações no gene SRY não são frequentes, ... See full document

... X-linked adrenoleukodystrophy (X-ALD) is an inherited disease with clinical heterogeneity varying from presymptomatic individuals to rapidly progressive cerebral ALD forms. This disea- se is characterized by increased ... See full document

... Relatamos o uso de teste genético para decisão terapêutica em um caso de hiperparati- reoidismo primário associado com doença de Cushing (DC). Uma jovem de 20 anos foi avaliada por ganho de peso gradual, astenia, ... See full document

... Therefore, obese patients with relatively low leptin levels, or with polymorphisms associated with lower leptin, might beneit from leptin therapy.. Although leptin deiciency is an ext[r] ... See full document

... serum TSH level was 4.3 µU/mL, total T4 was 19 µg/dL (confirmed in another sample, Total T4 = > 24.0 µg/dL), free T4 was 3.7 ηg/dL, and free T3 was 6.7 pg/mL. Direct sequencing of the beta thyroid hormone receptor ... See full document

... We present four FIPA kindred discussing clinical and molecular data and emphasizing the diffe- rences regarding AIP status, as well as the importance of genetic screening. Family 1 consists of five patients harboring ... See full document

... Em 2004, segundo Costa-Santos e cols., p.W406R e p.R362C correspondiam a 50% e 32% dos ale- los mutantes do gene CYP17A1, respectivamente, em 24 pacientes de 19 famílias brasileiras com deficiência da 17α-hidroxilase. ... See full document

... Noonan syndrome (NS) is an autosomal dominant disorder, with variable phenotypic expres- sion, characterized by short stature, facial dysmorphisms and heart disease. Different genes of the RAS/MAPK signaling pathway are ... See full document

... 10. Moya CM, Perez de Nanclares G, Castaño L, Potau N, Bilbao JR, Carrascosa A, et al. Functional study of a novel single deletion in the TITF1/NKX2.1 homeobox gene that produces congenital hypothyroidism and benign ... See full document

... Treatment with rosiglitazone has been associated with severe paradoxical HDL-c reductions. To our knowledge, there are very few reports of this reaction occurring when patients are treated without the combination of a ... See full document

... Objetivo: O objetivo deste estudo foi avaliar a acurácia da dosagem de tireoglobulina no lavado da agulha da punção aspirativa (PAAF-Tg) de linfonodos (LN) cervicais para detecção de me- tástases do câncer papilar de ... See full document

... Spranger J, et al. Growth hormone response during oral glucose tolerance test: the impact of assay method on the estimation of reference values in patients with acromegaly and in healthy con- trols, and the role of ... See full document

... Although most hypothyroid patients do well with one single tablet of thyroxine daily, approxi- mately 10% are dissatisied and another important group of patients is dificult to control. We reviewed the most common causes ... See full document

... Co-existence of primary hyperparathyroidism (PHPT) and non-medullary thyroid carcinoma has been previously reported in sporadic case reports and some surgical series, but the majority of cases concerned women with occult ... See full document

... 1. Saraiva GL, Cendoroglo MS, Ramos LR, Araújo LMQ, Vieira JGH, Maeda SS, et al. Prevalência da deiciência, insuiciência de vita- mina D e hiperparatireoidismo secundário em idosos institucio- nalizados e moradores na ... See full document