Arquivos brasileiros de endocrinologia e metabologia最新文献

Maturity Onset Diabetes of Young (MODY) is a heterogeneous group of monogenic disorders that result in β-cell dysfunction, with an estimated prevalence of 1%-2% in industrialized countries. MODY generally occurs in non-obese patients with negative autoantibodies presenting with mild to moderate hyperglycemia. The clinical features of the patients are heterogeneous, depending on the different genetic subtypes. We pretend to report a case of MODY type 2 caused by a novel de novo CGK mutation, highlighting the importance of the differential diagnosis in pediatric diabetes. A 13-year-old, healthy and non-obese girl was admitted for investigation of recurrent hyperglycemia episodes. She presented with persistent high levels of fasting blood glycemia (> 11.1 mmol/L) and had no familial history of diabetes. The blood glucose profile revealed an impaired fasting glucose of 124 mg/dL (6,9 mmol/L) with a normal oral glucose tolerance test. Fasting insulinemia was 15 mg/dL (90.1 pmol/L), HOMA-IR was 3.9 and hemoglobin A1c was 7.1%. Pancreatic autoantibodies were negative. Genetic testing identified a novel missense heterozygous mutation in exon 5 of GCK gene c.509G > T (p.Gly170Val), not present on the parents. This result established the diagnosis of MODY type 2. Clinical identification of patients with MODY remains a diagnostic challenge, especially when familial history is absent. Molecular diagnosis is very important for establishing an individualized treatment and providing a long term prognosis for each type of MODY.

Objective: To evaluate the alternative parameters to monitor glycemia in pregnant women with diabetes studying the relationship between fructosamine testing and self monitoring of blood glucose in pregnant women with diabetes.

Materials and methods: Serum fructosamine levels and the self monitoring of blood glucose over 14 days before the collection of fructosamine were evaluated in 47 diabetic pregnant women.

Results: Seventy-one fructosamine levels and 2,238 glucose measurements (CGs) were analysed. Levels of fructosamine correlated with high blood glucose index (HBGI) and the standard deviation of glycemias (r = 0.28; p = 0.021 and r = 0.26; p = 0.03, respectively). The comparison between the mothers of the newborns with appropriated or large birthweight and those who gave birth to small newborns for their gestational age (SGA) showed that the latter had a lower glycemic mean (105 vs. 114 and 119 mg/dL), a higher low blood glucose index (5.8 vs. 1.3 and 0.7) and a higher percentage of hyperglycemias (11 vs. 0 and 0%) even when the fructosamine falls within the reference values (242 vs. 218 and 213 μmol/l).

Conclusion: The levels of fructosamine can be used as further parameter to aid self monitoring of blood glucose to evaluate hyperglycemias and glycemic variability, however, this can underestimate hypoglycemias in pregnant women carrying small-for-gestational age fetuses.

Parathyroid cysts (PCs) are rare lesions, located in the neck and anterior mediastinal region. The vast majority are non-functioning, presented as nodular cervical lesions. Large, non-functioning PCs can manifest with compressive symptoms of the surrounding tissues. Rarely, PCs produce excessive amounts of parathyroid hormone (PTH), resulting in primary hyperparathyroidism. We report a case of functional PC, describing its diagnostic and therapeutic approach.

Objective: To describe and analyze technique for bilateral catheterization of inferior petrosal sinus in our service, discussing the difficulties and success rates found.

Subjects and methods: Fourteen patients with suspected Cushing's syndrome underwent bilateral inferior petrosal sinuses (IPS) catheterization between 2009 and 2012. The technique for catheterization and for hormone analysis were described.

Results: The procedure was well tolerated by all patients, and adequate catheterization was achieved in 92.85% of cases. The diagnosis of Cushing's disease was confirmed in 10 cases. The result of IPS catheterization after CRH infusion was coherent in all cases, without false negatives.

Conclusion: The catheterization of IPS, despite being an invasive technique, is a safe procedure. The objectives can be done properly in most cases. When well indicated, this procedure remains the gold standard in distinguishing the ectopic form to pituitary source in Cushing's syndrome.

Objective: Zinc transporter 8 autoantibodies (ZnT8A) have been poorly studied in non-Caucasian individuals. We aimed to investigate the prevalence of ZnT8 autoantibodies in patients with T1D and their first degree relatives (FDR) from a multiethnic population, as well as its relation with the insulin (INS) or the protein tyrosine phosphatase non-receptor 22 (PTPN22) gene polymorphisms.

Subjects and methods: ZnT8A were analyzed in sera from T1D patients (n = 72, mean age of 30.3 ± 11.4 years) of variable duration (15.7 ± 11.8 years) and their FDR (n = 78, mean age of 18.3 ± 9.1 years) by a triple mix Radioligand Binding Assay (RBA) for the ZnT8 autoantibody (ZnT8-RWQ) variants. SNP (single nucleotide polymorphism) for INS and PTPN22 were genotyped.

Results: The prevalence of ZnT8A was higher in T1D patients than FDR, for ZnT8TripleA (24% vs. 4%,p = 0.001), ZnT8RA (24% vs. 4%, p < 0.001) and ZnT8QA (15% vs. 3%, p = 0.004). All FDR with ZnT8A (n = 3) had at least another positive antibody. Heterozygosis for PTPN22 was associated with a higher frequency of ZnT8TripleA (p = 0.039) and ZnT8RA (p = 0.038).

Conclusions: ZnT8A is observed in non-Caucasian patients with T1D, even years after the disease onset, as well as in their FDR. In those, there was an overlap between ZnT8A and other T1D antibodies. ZnT8A was associated with PTPN22 polymorphisms. Further longitudinal studies are necessary to elucidate the importance of these findings in the natural history of T1D patients with multiethnic background.

Congenital adrenal hyperplasia (CAH) is an autossomic recessive disorder caused by impaired steroidogenesis. Patients with CAH may present adrenal insufficiency with or without salt-wasting, as well as various degrees of virilization and fertility impairment, carrying a high incidence of testicular adrenal rest tumors and increased incidence of adrenal tumors. The diagnosis of CAH is made based on the adrenocortical profile hormonal evaluation and genotyping, in selected cases. Follow-up is mainly based on hormonal and clinical evaluation. Utility of imaging in this clinical setting may be helpful for the diagnosis, management, and follow-up of the patients, although recommendations according to most guidelines are weak when present. Thus, the authors aimed to conduct a narrative synthesis of how imaging can help in the management of patients with CAH, especially focused on genitography, ultrasonography, computed tomography, and magnetic resonance imaging.

Objective: It is believed that gastric pH interferes in levothyroxine absorption. Omeprazole, which acts by blocking the secretion of gastric acid, might interfere in hypothyroidism control in patients using levothyroxine and this effect could be dose dependent. The present study aimed to investigate this possibility.

Subjects and methods: Twenty-one patients with primary hypothyroidism who had been using a stabilized levothyroxine dosage for at least one year were selected and randomly assigned to take omeprazole at the dosage of 40 mg or 20 mg per day. The mean levels of thyroid-stimulating hormone (TSH) before and 3 months after omeprazole usage were compared in the entire sample and in each group.

Results: Ten patients concluded the entire treatment protocol in the 20 mg group and nine patients in the 40 mg group. There was no significant difference in TSH levels before and 3 months after omeprazole treatment in the entire patient sample (median levels: 2.28 vs. 2.30 mU/L, respectively: p = 0.56). Analysis of each subgroup (20 and 40 mg) showed no significant variation in TSH levels before and 3 months after omeprazole treatment (median levels: 2.24 vs. 2.42 mU/L, p = 0.62, and 2.28 vs. 2.30 mU/L, p = 0.82, respectively). No significant difference in the absolute (p = 0.93) or relative (p = 0.87) delta were observed between the two subgroups.

Conclusion: Omeprazole in the dosage of 20 or 40 mg/day does not interfere in a clinically relevant manner in the treatment of patients with hypothyroidism that was previously under control.

Objective: Evaluate the Neonatal Screening Program (NSP) for congenital adrenal hyperplasia (CAH) of the Department of Health of the State of Santa Catarina (Secretaria de Estado da Saúde de Santa Catarina, SES/SC), and provide information to improve the program.

Subjects and methods: Descriptive, retrospective study of 748,395 children screened between January 2001 and December 2010. We analyzed the coverage of the NSP-SES/SC prevalence of CAH, child's age when the first sample for 17-hydroxyprogesterone (17OHP) measurement was collected, levels of 17OHP, mean age at treatment onset and main clinical manifestations.

Results: The NSP-SES/SC covered 89% of the live newborns in the State. It diagnosed 50 cases of CAH, yielding an incidence of 1:14,967. Mean age at collection of the first sample was 7.3 days and mean level of 17OHP was 152.9 ng/mL. The most frequent manifestations were virilized genitalia with nonpalpable gonads, clitoromegaly and genital hyperpigmentation. In three girls, the genre established at birth was incorrect. The salt-wasting form was present in 74% of the cases. There was no occurrence of shock or death. Mean age at treatment onset in the salt-wasting form was 17.4 days compared with 54.9 days in those without the salt-wasting form of the disease. All children were treated with hydrocortisone, and those with salt-wasting CAH were also treated with fludrocortisone.

Conclusions: The incidence of CAH was 1 case to 14,967 live newborns. Collection of the first sample occurred outside the recommended time, resulting in delays in treatment onset.

Objective: Retinol-binding protein 4 (RBP4) is an adipokine responsible for vitamin A (retinol) transportation. Studies associated RBP4 increased levels with severity of type 2 diabetes mellitus (T2DM) and insulin resistance (IR). The study aimed to quantify RBP4 serum standards in women with a wide range of body mass index (BMI) and glucose tolerance level.

Subjects and methods: Cross-sectional study was performed with 139 women divided into three groups: Group 1 (lean-control, n = 45) and Group 2 (obese, n = 53) with normal glucose tolerance and group 3 (obese with T2DM, n = 41), called G1, G2 and G3. Were assessed clinical, biochemical, anthropometric and body composition parameters.

Results: According to data analysis, we obtained in G1 higher RBP4 levels (104.8 ± 76.8 ng/mL) when compared to G2 (87.9 ± 38 ng/mL) and G3 (72.2 ± 15.6 ng/mL) levels. Also, were found: in G1 positive correlations of RBP4 with BMI (r = 0.253), glycated hemoglobin (r = 0.378) and fasting insulin (r = 0.336); in G2 with glycated hemoglobin (r = 0.489); in G3 with glycated hemoglobin (r = 0.330), fasting glucose (r = 0.463), HOMA-IR (r = 0.481).

Conclusions: Although RBP4 have shown lower levels in diabetic and obese, a strong correlation with HOMA-IR index highlights that, in our study, there is growing IR when there is an increasing in RBP4 levels.