Arq Bras Endocrinol Metab vol.52 número8

The autosomal recessive inheritance was reported in one family but most patients present an autosomal dominant inheritance and more than 50 mutations, causing autosomal

Keywords: Apparent mineralocorticoid excess; HSD11B2 gene; Hypertension; Defi ciency of 11 β -hydroxysteroid dehydrogenase type 2;

In the present study, we report a 45,X/46,X,der(X) female patient with tall stature, low body mass index (BMI), no breast development or Turner’s stigmata and gonadal insuffi

In addition, expression profi les of the mRNA somatostatin receptor subtypes (SSTR) in tu- mor fragments may serve as a predictive tool of bio- chemical and tumor volume response to

Hearing loss associated with enlarged vestibular aqueduct and Mondini dysplasia is caused by splice-site mutation in the PDS gene. Azaiez H, Yang T, Prasad S, Sorensen JL,

A novel TR beta mutation (R383H) in resistance to thyroid hormone syndrome predomi- nantly impairs corepressor release and negative transcription- al regulation. Beck-Peccoz P,

Our aim was to analyze the CYP17 coding region from these patients with combined 17 α -hydroxylase/ 17,20-lyase defi ciency phenotype and to predict their enzymatic

Detection of thyrotropin-receptor messenger ri- bonucleic acid (mRNA) and thyroglobulin mRNA transcripts in peripheral blood of patients with thyroid disease: sensitive and specifi