Arquivos Brasileiros de Endocrinologia e Metabologia This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Ovarian intratumoral 21-hydroxylase deficiency in a postmenopausal hirsute woman
We report a case of a 64 year-old woman with signs of virilisation that had started 3 years before. Blood hormone analysis revealed increased levels of testosterone, and 17-hydroxyprogesterone. The tetracosactin test revealed 21-hydroxylase deficiency. Radiological imaging demonstrated a nodule in her left ovary. The patient was submitted to bilateral laparoscopic oophorectomy, and histopathological examination revealed a luteoma of the left ovary. Postoperative serum testosterone level and 17-hydroxyprogesterone returned to normal levels in one month. Virilism regressed within six months. Our patient also showed an elevat...
Source: Arquivos Brasileiros de Endocrinologia e Metabologia - January 19, 2013 Category: Endocrinology Source Type: research

Hyperinsulinemic hypoglycemia of the infancy: Analysis of clinical data from a Brazilian sample
CONCLUSION: This is the first critic review of a Brazilian sample with congenital HHI. Arq Bras Endocrinol Metab. 2012;56(9):666-71 (Source: Arquivos Brasileiros de Endocrinologia e Metabologia)
Source: Arquivos Brasileiros de Endocrinologia e Metabologia - January 19, 2013 Category: Endocrinology Source Type: research

Development, characterization and clinical validation of new sensitive immunofluorometric assay for the measurement of serum thyroglobulin
CONCLUSION: This new, high-sensitivity Tg assay presented a good correlation with Beckman Access assay and with the clinical outcome of the patients. The continuous availability of a validated assay is an additional advantage for long term follow-up of DTC patients. Arq Bras Endocrinol Metab. 2012;56(9):658-65OBJETIVO: Na última década, estudos mostraram a importância dos ensaios de tiroglobulina (Tg) com melhor sensibilidade funcional no seguimento dos pacientes com carcinoma diferenciado de tiroide (CDT). Neste estudo, descrevemos o desenvolvimento de um novo ensaio de Tg de alta sensibilidade, que foi validado no seg...
Source: Arquivos Brasileiros de Endocrinologia e Metabologia - January 19, 2013 Category: Endocrinology Source Type: research

Spontaneous puberty in girls with early diagnosis of Turner syndrome
CONCLUSIONS: The greater prevalence of spontaneous puberty in girls whose diagnosis was not based on pubertal delay suggests that, among those diagnosed later, there is a bias towards patients with hypogonadism. Arq Bras Endocrinol Metab. 2012;56(9):653-7OBJETIVO: Verificar se a frequência de puberdade espontânea em meninas com síndrome de Turner (ST) diagnosticadas na infância é superior a de pacientes diagnosticadas posteriormente. SUJEITOS E MÉTODOS: Foram avaliadas 33 meninas < 10 anos ao diagnóstico quanto ao desenvolvimento puberal. A frequência de puberdade espontânea foi comparada com a de pacientes com ma...
Source: Arquivos Brasileiros de Endocrinologia e Metabologia - January 19, 2013 Category: Endocrinology Source Type: research

Mutational analysis of TAC3 and TACR3 genes in patients with idiopathic central pubertal disorders
CONCLUSION: Rare variants in the TAC3 and TACR3 genes were identified in patients with central pubertal disorders. Loss-of-function variants of TACR3 were associated with the normosmic IHH phenotype. Arq Bras Endocrinol Metab. 2012;56(9):646-52OBJETIVO: Investigar a presença de variantes nos genes TAC3 e TACR3, os quais codificam a NKB e seu receptor (NK3R), respectivamente, em uma coorte de pacientes com distúrbios puberais centrais idiopáticos. SUJEITOS E MÉTODOS: Duzentos e trinta e sete pacientes foram estudados: 114 com puberdade precoce central (PPC), 73 com hipogonadismo hipogonadotrófico isolado normósmico (H...
Source: Arquivos Brasileiros de Endocrinologia e Metabologia - January 19, 2013 Category: Endocrinology Source Type: research

Dietary energy density and associated factors: how is the population of Sao Paulo doing?
CONCLUSIONS: High values of energy density and the relationship determined with other nutritional constituents denote the poor quality of the diet in this population, which may be contributing to the rising rates of overweight. Arq Bras Endocrinol Metab. 2012;56(9):638-45 (Source: Arquivos Brasileiros de Endocrinologia e Metabologia)
Source: Arquivos Brasileiros de Endocrinologia e Metabologia - January 19, 2013 Category: Endocrinology Source Type: research

Clinical judgment to estimate pretest probability in the diagnosis of Cushing's syndrome under a Bayesian perspective
CONCLUSION: Pretest probability of CS diagnosis was estimated using a Bayesian methodology. Although pretest likelihood can be context-dependent, experience based on years of practice may help the practitioner to diagnosis CS. Arq Bras Endocrinol Metab. 2012;56(9):633-7OBJETIVO: Estimar a probabilidade pré-teste do diagnóstico de síndrome de Cushing (SC) por meio de julgamento clínico utilizando abordagem Bayesiana. MATERIAIS E MÉTODOS: Médicos responderam a três perguntas, em sete congressos de endocrinologia. Após obtenção da história clínica/exame físico, sem exames laboratoriais, apenas com base em sua e...
Source: Arquivos Brasileiros de Endocrinologia e Metabologia - January 19, 2013 Category: Endocrinology Source Type: research

Newborn Screening Program for congenital hypothyroidism of the State of Santa Catarina, Brazil: etiological investigation in the first visit
CONCLUSIONS: The diagnostic approach used at first visit for PCH patients may determine the etiology in 53.3% of cases. Half of patients had thyroid dysgenesis. Arq Bras Endocrinol Metab. 2012;56(9):627-32 (Source: Arquivos Brasileiros de Endocrinologia e Metabologia)
Source: Arquivos Brasileiros de Endocrinologia e Metabologia - January 19, 2013 Category: Endocrinology Source Type: research

Optimizing nucleic acid extraction from thyroid fine-needle aspiration cells in stained slides, formalin-fixed/paraffin-embedded tissues, and long-term stored blood samples
CONCLUSION: The techniques herein applied to isolate nucleic acids allowed further reliable molecular analyses. Arq Bras Endocrinol Metab. 2012;56(9):618-26OBJETIVO: O isolamento adequado de ácidos nucleicos a partir de sangue periférico, lâmina corada de punção aspirativa por agulha fina, tecido fixado em formalina e emblocado em parafina e tecido fresco é fundamental para assegurar o sucesso de técnicas aplicadas em endocrinologia molecular, principalmente quando lidamos com amostras estocadas por longos períodos ou quando há impossibilidade de nova coleta de amostra de pacientes que perderam o seguimento. Neste...
Source: Arquivos Brasileiros de Endocrinologia e Metabologia - January 19, 2013 Category: Endocrinology Source Type: research

Mutations of the thyroid peroxidase gene in Chinese siblings with congenital goitrous hypothyroidism
CONCLUSIONS: CGH of the Chinese siblings was due to the TPO gene mutations (c.2268-2269 insT and c.2089 G>A). Arq Bras Endocrinol Metab. 2012;56(9):614-7OBJETIVOS: Investigar mutações no gene da peroxidase da tireoide (TPO) em irmãos chineses com hipotireoidismo congênito com bócio (HCB). SUJEITOS E MÉTODOS: O probando, sua irmão e seus pais foram analisados. Todos os sujeitos passaram por exames clínicos e laboratoriais. A análise para mutações do gene TPO foi feita por meio de sequenciamento de fragmentos amplificados do DNA genômico extraído. RESULTADOS: Os irmãos foram diagnosticados com HCB e déficits d...
Source: Arquivos Brasileiros de Endocrinologia e Metabologia - January 19, 2013 Category: Endocrinology Source Type: research

Cardiovascular risk in Japanese-Brazilian subjects
CONCLUSION: Subjects of this community are exposed to major cardiovascular risk factors, namely high prevalence of MS diagnoses and increased HOMA-IR. Arq Bras Endocrinol Metab. 2012;56(9):608-13OBJETIVO: Avaliar a presença de fatores de risco para doença cardiovascular em nipo-brasileiros. SUJEITOS E MÉTODOS: Foram estudados 131 moradores de Mombuca. Utilizaram-se os testes do Qui-quadrado, Exato de Fisher, t de Student e ANOVA, com significância de 5%. RESULTADOS: A média de idade foi de 56,7 anos; 76,3% tinham dislipidemia, 24,4% pré-diabetes (PDM), 10,7% diabetes melito tipo 2 (DM2), 46,6% hipertensão, 52,7% obe...
Source: Arquivos Brasileiros de Endocrinologia e Metabologia - January 19, 2013 Category: Endocrinology Source Type: research

Leptin: molecular mechanisms, systemic pro-inflammatory effects, and clinical implications
Leptin, the adipokine produced mainly by the white adipose tissue, plays important roles not only in the regulation of food intake, but also in controlling immunity and inflammation. It has been widely demonstrated that the absence of leptin leads to immune defects in animal and human models, ultimately increasing mortality. Leptin also regulates inflammation by means of actions on its receptor, that is widely spread across different immune cell populations. The molecular mechanisms by which leptin determines its biological actions have also been recently elucidated, and three intracellular pathways have been implicated in...
Source: Arquivos Brasileiros de Endocrinologia e Metabologia - January 19, 2013 Category: Endocrinology Source Type: research

New mutation in the PTEN gene in a Brazilian patient with Cowden's syndrome
Cowden syndrome is characterized by hamartomatous polyps, trichilemmomas, increased risk of developing neoplasms, and is associated with germline mutations in the PTEN gene. We searched for germline mutations in PTEN in a 49-year-old female patient who presented trichilemmoma with previous history of breast carcinoma, and thyroidectomy for a thyroid nodule. We also searched for somatic mutations in breast and thyroid tumoral tissues. DNA was extracted from peripheral leukocytes, paraffin samples of breast carcinoma, and cytological smears of thyroid nodule fine-needle aspiration biopsy, whose final histopathological diagno...
Source: Arquivos Brasileiros de Endocrinologia e Metabologia - January 9, 2013 Category: Endocrinology Source Type: research

The rare intracellular RET mutation p.Ser891Ala in an apparently sporadic medullary thyroid carcinoma: a case report and review of the literature
Medullary thyroid carcinoma (MTC) is a malignant tumor originating from parafollicular C-cells and accounts for 4-10% of all thyroid carcinomas. MTC develops in either sporadic (75%) or hereditary form (25%). Mutations in the RET proto-oncogene are responsible for hereditary MTC and the rate of heritable disease among apparently sporadic MTC (sMTC) cases varies from 6 to 15%. RET genetic testing is now considered fundamental in MTC management but the extent of the molecular analysis required to exclude inherited disease is still controversial. While the screening of all known mutation loci is recommended by some authors, t...
Source: Arquivos Brasileiros de Endocrinologia e Metabologia - January 9, 2013 Category: Endocrinology Source Type: research

46,XX DSD and Antley-Bixler syndrome due to novel mutations in the cytochrome P450 oxidoreductase gene
We report the case of a 9-year-old girl who was born with virilized genitalia (Prader stage V), absence of palpable gonads, 46,XX karyotype, and hypergonadotropic hypogonadism. During the first year of life, ovarian cyst, partial adrenal insufficiency, and osteoarticular changes, such as mild craniosynostosis, carpal and tarsal synostosis, and limited forearm pronosupination were observed. Her mother presented severe virilization during pregnancy. The molecular analysis of P450 oxidoreductase gene revealed compound heterozygosis for the nonsense p.Arg223*, and the novel missense p.Met408Lys, inherited from the father and t...
Source: Arquivos Brasileiros de Endocrinologia e Metabologia - January 9, 2013 Category: Endocrinology Source Type: research