Arq Bras Endocrinol Metab vol.54 número5

Diagnosis by serendipity: Cushing syndrome attributable to cortisol-producing adrenal adenoma as the initial manifestation of multiple endocrine neoplasia type 1 due to a

Homozygous carriers of either p.W406R or p.R362C mutations have been described as presenting hypertension, hypokalemia, and sexual infantilism (9); a typical phenotype observed

To evaluate if the variable expressivity in this syn- drome is due partially to the presence of more than one mutation in genes of the RAS/MAPK pathway, we screened a cohort of

Although these infants have clinical features of hyperthyroidism and goiter, this diagnosis was not reported at newborn screening, but the probably el- evated neonatal

Dados do nosso grupo em pacien- tes com insuiciência renal crônica mostraram correlação inversa entre a capacidade an- tioxidante total e a função endotelial avaliada no leito

Pseudohypoparathyroidism and GNAS epigenetic de- fects: clinical evaluation of Albright hereditary osteodystrophy and molecular analysis in 40 patients. Mantovani G, Bondioni

Correlation of shift work and waist circumference, body mass index, chronotype and depressive symptoms.. Correlação entre trabalho de turno e circunferência abdominal, índice

In the present report we describe clinical data and the ABCD1 gene study in two boys affected with the chil- dhood cerebral form that presented with different