Magalhães JF, Bacchin RP, Costa PS
… +3 more, Alves GM, Fraige Filho F, Stella LC
Arq Bras Endocrinol Metabol
· 2014 Nov · PMID 25465612
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Metastatic tumors to the pituitary gland are an unusual complication typically seen in elderly patients with diffuse malignant disease. Breast and lung are the commonest sites of the primary tumor. Prognosis of patients...Metastatic tumors to the pituitary gland are an unusual complication typically seen in elderly patients with diffuse malignant disease. Breast and lung are the commonest sites of the primary tumor. Prognosis of patients with breast cancer metastasis is poor and depends on the primary neoplastic extension. We report a 54 year-old woman with breast cancer metastasis to the pituitary stalk first diagnosed because of visual disturbance with no other symptoms. Pituitary gland stalk metastasis is a very uncommon find and this case report includes a literature review.
Luiz HV, Gonçalves D, Silva TN
… +5 more, Nascimento I, Ribeiro A, Mafra M, Manita I, Portugal J
Arq Bras Endocrinol Metabol
· 2014 Nov · PMID 25465611
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Hashimoto's thyroiditis (HT) has been characterized for many years as a well-defined clinicopathologic entity, but is now considered a heterogeneous disease. IgG4-related HT is a new subtype characterized by thyroid infl...Hashimoto's thyroiditis (HT) has been characterized for many years as a well-defined clinicopathologic entity, but is now considered a heterogeneous disease. IgG4-related HT is a new subtype characterized by thyroid inflammation rich in IgG4-positive plasma cells and marked fibrosis. It may be part of the systemic IgG4-related disease. We report a case of a 56-year-old Portuguese man who presented with a one-month history of progressive neck swelling and dysphagia. Laboratory testing revealed increased inflammatory parameters, subclinical hypothyroidism and very high levels of thyroid autoantibodies. Cervical ultrasound (US) demonstrated an enlarged and heterogeneous thyroid gland and two hypoechoic nodules. US-guided fine needle aspiration cytology was consistent with lymphocytic thyroiditis. The patient was submitted to total thyroidectomy and microscopic examination identified typical findings of HT, marked fibrosis limited within the thyroid capsule and lymphoplasmacytic infiltration, with >50 IgG4-positive plasma cells per high-power field and an IgG4/IgG ratio of >40%. After surgery, serum IgG4 concentration was high-normal. Symptoms relief and reduction in laboratory inflammatory parameters were noticed. Thyroid function is controlled with levothyroxine. To our knowledge we report the first case of IgG4-related HT in a non-Asian patient. We also perform a review of the literature regarding IgG4-related disease and IgG4-related HT. Our case highlights this new variant of the well known HT, and helps physicians in recognizing its main clinical features, allowing for proper diagnosis and treatment.
Arq Bras Endocrinol Metabol
· 2014 Nov · PMID 25465610
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We describe four cases of atypical femoral fractures treated at the Department of Endocrinology, Hospital de Clínicas, Federal University of Paraná (SEMPR) which, although characteristic of this type of fracture, present...We describe four cases of atypical femoral fractures treated at the Department of Endocrinology, Hospital de Clínicas, Federal University of Paraná (SEMPR) which, although characteristic of this type of fracture, presented clinical peculiarities that should be considered and serve as a warning in these patients, such as: late diagnosis with maintenance of bisphosphonates; absence of co-morbidities with excellent result; failure of fracture healing; use of anabolic medication after the fracture and the use of bone turnover markers at the follow up.
Ucan B, Delibasi T, Cakal E
… +5 more, Arslan MS, Bozkurt NC, Demirci T, Ozbek M, Sahin M
Arq Bras Endocrinol Metabol
· 2014 Nov · PMID 25465609
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Subacute thyroiditis (SAT) association with thyroid carcinoma has been rarely reported in the literature. We present a patient with SAT and papillary thyroid cancer that was suspected by ultrasonographic evaluation (US)...Subacute thyroiditis (SAT) association with thyroid carcinoma has been rarely reported in the literature. We present a patient with SAT and papillary thyroid cancer that was suspected by ultrasonographic evaluation (US) following SAT treatment. A fifty-four-year old female patient referred to our department due to tachycardia, jitteriness and pain in cervical region for the past one month. SAT diagnosis was established by physical examination, laboratory and ultrasonographic findings. After treatment, control thyroid US revealed regression of the hypoechogenic regions seen in both lobes, and a previously unreported hypoechogenic lesion with microcalcification focus that had irregular borders and was not clearly separated from the surrounding parenchyma located in the posterior aspect of the lobe (Elasto score: 4, Strain index: 7.08). Fine needle aspiration biopsy was taken from this nodule; cytology was assessed to be compatible with papillary thyroid carcinoma. Postsurgical pathology evaluation showed a papillary microcarcinoma. SAT may produce ultrasound changes that obscure the coexistence of papillary carcinoma. We recommend that patients with SAT have ultrasonography after they recover. Hypoechogenic regions bigger than 1 cm that are present in the follow-up post-therapy US should be assessed by biopsy.
Arq Bras Endocrinol Metabol
· 2014 Nov · PMID 25465608
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OBJECTIVE: Salivary cortisol measurement plays an important role in the evaluation of adrenal function. Its high correlation with free serum cortisol, the easy of sampling and the limited presence of interfering steroids...OBJECTIVE: Salivary cortisol measurement plays an important role in the evaluation of adrenal function. Its high correlation with free serum cortisol, the easy of sampling and the limited presence of interfering steroids, generated multiple recent studies of its application, in special in the screening of adrenal hyperfunction. In this paper we present our experience in the development of a high pressure liquid chromatography tandem mass spectrometry (HPLC-MS/MS) method for salivary cortisol and cortisone measurement. MATERIALS AND METHODS: For this study we used 181 saliva samples from our routine diagnostic laboratory. The HPLC-MS/MS method was based on a Waters Quattro Premier tandem mass spectrometer with an electrospray probe. After derivatization with hydroxylamine transitions monitored included cortisol and cortisone. An in-house radioimmunoassay (RIA) was used for salivary cortisol results comparison. RESULTS: Functional sensitivity was 24 ng/dL for cortisol and linearity from 24 to 1929 ng/dL. Saliva cortisol values obtained in the 181 samples presented a median of 52 ng/dL with 5-95% percentile of 24 and 374 ng/dL. With the RIA the results were 86, 25 and 436 ng/dL, respectively, with values for RIA being significantly higher (P<0.0001) and high correlation (r=0.8312, P<0.0001). Cortisone measured in 159 samples showed a median of 278 ng/dL, with 5-95% percentile of 100 and 1,133 ng/dL. Correlation with cortisol values was significant (r=0.820, P<0.0001). CONCLUSION: We conclude that the HPLC-MS/MS method compares favorably with the RIA for salivary cortisol measurement, with the additional possibility of concomitant cortisone measurement and the evaluation of 11βHSD2 activity.
Carneiro IB, Sampaio HA, Carioca AA
… +2 more, Pinto FJ, Damasceno NR
Arq Bras Endocrinol Metabol
· 2014 Nov · PMID 25465607
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OBJECTIVE: Despite the importance of insulin resistance (IR) on chronic diseases development, its diagnosis remains invasive. Thus, it's necessary to develop alternative methods to predict IR on clinical practice, and th...OBJECTIVE: Despite the importance of insulin resistance (IR) on chronic diseases development, its diagnosis remains invasive. Thus, it's necessary to develop alternative methods to predict IR on clinical practice, and the anthropometric indices are a good alternative to it. Given that, this study's purpose is to evaluate these indices behavior in relation to HOMA-IR (Homeostasis Model Assessment of Insulin Resistance). MATERIALS AND METHODS: We collected weight, height and waist circumference from 148 adolescents. Through these indices, we calculated the body mass index (BMI), inverted body mass index (iBMI), waist-to-height ratio (WHtR) and conicity index (C index). We also collected data from body composition (body fat percentage - %BF), through electric impedance, and biochemical data (fasting glucose and insulin levels) employed on the HOMA-IR calculation. The HOMA-IR cutoff adopted was of 2.39±1.93. The statistical analysis involved the Spearman correlation analysis, multiple linear regression models and ROC (Receiver Operating Characteristic) curves construction, using 95% CI. We used the statistic pack SPSS v.18, considering p<0.05 as the significance level. RESULTS: All anthropometric indices were statistically and positively correlated to HOMA-IR. The ROC curve showed that WC, WHtR and C index, in this order, were the most efficient to predict IR. CONCLUSION: Among the indicators studied, those related to central fat accumulation seem the most suitable for predicting IR.
Arq Bras Endocrinol Metabol
· 2014 Nov · PMID 25465606
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OBJECTIVE: The present study aimed to examine the effects of thyroid hormone (TH), more precisely triiodothyronine (T3), on the modulation of TH receptor alpha (TRα) mRNA expression and the involvement of the phosphatidy...OBJECTIVE: The present study aimed to examine the effects of thyroid hormone (TH), more precisely triiodothyronine (T3), on the modulation of TH receptor alpha (TRα) mRNA expression and the involvement of the phosphatidyl inositol 3 kinase (PI3K) signaling pathway in adipocytes, 3T3-L1, cell culture. MATERIALS AND METHODS: It was examined the involvement of PI3K pathway in mediating T3 effects by treating 3T3-L1 adipocytes with physiological (P=10nM) or supraphysiological (SI =100 nM) T3 doses during one hour (short time), in the absence or the presence of PI3K inhibitor (LY294002). The absence of any treatment was considered the control group (C). RT-qPCR was used for mRNA expression analyzes. For data analyzes ANOVA complemented with Tukey's test was used at 5% significance level. RESULTS: T3 increased TRα mRNA expression in P (1.91±0.13, p<0.001), SI (2.14±0.44, p<0.001) compared to C group (1±0.08). This increase was completely abrogated by LY294002 in P (0.53±0.03, p<0.001) and SI (0.31±0.03, p<0.001). To examine whether TRα is directly induced by T3, we used the translation inhibitor cycloheximide (CHX). The presence of CHX completely abrogated levels TRα mRNA in P (1.15±0.05, p>0.001) and SI (0.99±0.15, p>0.001), induced by T3. CONCLUSION: These results demonstrate that the activation of the PI3K signaling pathway has a role in T3-mediated indirect TRα gene expression in 3T3-L1 adipocytes.
Fu C, Chen S, Chen R
… +4 more, Fan X, Luo J, Li C, Qian J
Arq Bras Endocrinol Metabol
· 2014 Nov · PMID 25465605
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OBJECTIVE: Dyshormonogenetic congenital hypothyroidism (CH) was reported to be associated with a mutation in the sodium iodide symporter (NIS) gene. The present study was undertaken in the Guangxi Zhuang Autonomous Regio...OBJECTIVE: Dyshormonogenetic congenital hypothyroidism (CH) was reported to be associated with a mutation in the sodium iodide symporter (NIS) gene. The present study was undertaken in the Guangxi Zhuang Autonomous Region of China, to determine the nature and frequency of NIS gene mutations among patients with CH due to dyshormonogenesis. SUBJECTS AND METHODS: Blood samples were collected from 105 dyshormonogenetic CH patients in Guangxi Zhuang Autonomous Region, China, and genomic DNA was extracted from peripheral blood leukocytes. All exons of the NIS gene together with their exon-intron boundaries were screened by next-generation sequencing. RESULTS: Two silent variations (T221T and T557T) and one missense variation (M435L), as well as two polymorphisms (rs200587561 and rs117626343) were found. CONCLUSIONS: Our results indicate that the NIS mutation rate is very low in the Guangxi Zhuang Autonomous Region, China, and it is necessary to study mutations of other genes that have major effects on thyroid dyshormonogenesis and have not as yet been studied in this population.
Duran AO, Anil C, Gursoy A
… +4 more, Nar A, Inanc M, Bozkurt O, Tutuncu NB
Arq Bras Endocrinol Metabol
· 2014 Nov · PMID 25465604
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OBJECTIVE: Thyroid volume and the prevalence of thyroid nodules are higher in patients with insulin resistance. A relationship between thyroid volume and glucose metabolism disorders (GMD) has not as yet been clarified....OBJECTIVE: Thyroid volume and the prevalence of thyroid nodules are higher in patients with insulin resistance. A relationship between thyroid volume and glucose metabolism disorders (GMD) has not as yet been clarified. The present retrospective study aimed to investigate the association between GMD and thyroid volume. SUBJECTS AND METHODS: We investigated the data of 2,630 patients who were evaluated for thyroid biopsy in our hospital. The study population included 602 patients with GMD, 554 patients with diabetes mellitus (DM) and 1,474 patients with normal glucose metabolism as a control group. We obtained the levels of serum thyroid stimulating hormone (TSH) and the thyroid volumes of those patients retrospectively. RESULTS: The median ages for the control group, GMD group and DM group were 55 (15-91) years, 60 (27-97) years, and 65 (27-91) years respectively and there was a statistically significant difference between the groups with regard to age and gender (p<0.001). Levels of TSH were similar in all groups. The median total thyroid volumes for patients with DM and GMD were significantly higher than that of the control group [22.5 (3-202) mL, 20.2 (4-190) mL, and 19.2 (3-168) mL respectively, p≤0.001 for all parameters]. Also the median total thyroid volume for patients with DM was significantly higher than that of the GMD group (p<0.001). According to the correlation analysis, thyroid volume was significantly correlated with age (r=0.92, p<0.001) and TSH (r=0.435, p<0.001). Age, gender, TSH levels, GMD and DM diagnosis were independently correlated with thyroid volume. CONCLUSION: The thyroid gland is one of the target tissues of metabolic disorders. We reported a positive correlation between GMD/type 2 DM and thyroid volume. Further controlled, prospective, randomized studies on this subject are required to gain more information.
Arq Bras Endocrinol Metabol
· 2014 Nov · PMID 25465603
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OBJECTIVE: This meta-analysis aimed to investigate the association of leptin levels with pathogenetic risk of CHD and stroke. MATERIALS AND METHODS: Studies were identified in the PubMed, Embase, and Springer link databa...OBJECTIVE: This meta-analysis aimed to investigate the association of leptin levels with pathogenetic risk of CHD and stroke. MATERIALS AND METHODS: Studies were identified in the PubMed, Embase, and Springer link database without language restriction. Odds ratios (ORs) and corresponding 95% confidence intervals (95% CIs) were used as effect indexes. The association of leptin levels with pathogenetic risk of CHD and stroke, as well as the risk variation of CHD with each additional one unit of leptin level were examined via meta-analysis. The publication bias was assessed via Egger's linear regression test. RESULTS: Eight nested case-control studies consisting of 1,980 patients and 11,567 controls were included for current meta-analysis. ORs (95% CIs) of association of leptin levels with CHD and stroke was 1.90 (1.06, 3.43), and 2.14 (1.48, 3.08), respectively. In addition, significant result was obtained regarding the risk variation of CHD with each additional one unit of leptin level (OR =1.04, 95% CI =1.00-1.08, P=0.044). There was no significant publication bias as suggested by Egger test outcomes. CONCLUSION: There was a significant association of leptin with pathogenetic risk of CHD and stroke, and raised leptin levels could significantly increase the pathogenetic risk of CHD.
Arq Bras Endocrinol Metabol
· 2014 Nov · PMID 25465602
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OBJECTIVE: To determine whether the currently recommended therapy for papillary thyroid carcinoma (PTC) that show no classical factors indicating a poor prognosis is also effective in cases with a family history of this...OBJECTIVE: To determine whether the currently recommended therapy for papillary thyroid carcinoma (PTC) that show no classical factors indicating a poor prognosis is also effective in cases with a family history of this tumor. SUBJECTS AND METHODS: Forty-two patients were studied; 10 were submitted to lobectomy and 32 to total thyroidectomy, including 23 without lymph node dissection and 9 with lymph node dissection. None of the patients received radioiodine or was maintained under TSH suppression. RESULTS: No case of recurrence was detected by imaging methods and there was no increase in thyroglobulin or antithyroglobulin antibodies during follow-up (24 to 72 months). CONCLUSION: The treatment usually recommended for patients with PTC does not need to be modified in the presence of a family history of this tumor if no factors indicating a poor prognosis are present (tumor ≤2 cm, non-aggressive histology, no extensive extrathyroid invasion or important lymph node involvement, complete tumor resection, no evidence of persistent disease after surgery).
Arq Bras Endocrinol Metabol
· 2014 Nov · PMID 25465601
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OBJECTIVE: To determine the value of acromegaly screening in adult patients not reporting enlargement of the extremities, but who present arterial hypertension associated with at least one other comorbidity of the diseas...OBJECTIVE: To determine the value of acromegaly screening in adult patients not reporting enlargement of the extremities, but who present arterial hypertension associated with at least one other comorbidity of the disease. SUBJECTS AND METHODS: Patients seen by general practitioners at primary health care units were evaluated. Among the patients without extremity enlargement, those with recently diagnosed arterial hypertension associated with at least one other comorbidity were selected. RESULTS: A total of 1,209 patients were submitted to laboratory investigation. Elevated IGF-1 was observed in 22 patients. Eighteen patients had adequate suppression of growth hormone (GH). No GH suppression was observed in four women with confirmed elevated IGF-1. In the latter, IGF-1 and nadir GH were only slightly elevated, magnetic resonance showed a normal pituitary, and chest and abdominal computed tomography revealed no tumor, and no intervention was performed. CONCLUSION: In patients with arterial hypertension without known pituitary disease, acromegaly is unlikely in the absence of enlargement of the extremities.
Marcato DG, Sampaio JD, Alves ER
… +4 more, Jesus JS, Fuly JT, Giovaninni NP, Costalonga EF
Arq Bras Endocrinol Metabol
· 2014 Nov · PMID 25465600
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OBJECTIVE: Sitting height (SH) is an important parameter in the evaluation of children with growth and pubertal disorders. Besides this, it has been viewed as a biomarker of cardiovascular risk, which is increased in adu...OBJECTIVE: Sitting height (SH) is an important parameter in the evaluation of children with growth and pubertal disorders. Besides this, it has been viewed as a biomarker of cardiovascular risk, which is increased in adults with relatively short legs. So, the aim of this study was to evaluate the relationship between body proportions and cardiovascular risk markers in children. SUBJECTS AND METHODS: Eight hundred and seventeen children aged 6-13 years were evaluated. Weight, height, sitting-height (SH), sitting-height/height (SH/H), body mass index (BMI) and blood pressure (BP) were assessed and converted to standard deviation scores (SDS) for age and sex. Statistical analyses were performed. RESULTS: There was a positive association of BMI SDS with SH and SH/H SDS (p<0.001). Overweight children showed SH 0.8 SDS superior to eutrophic children (p<0.001). SH SDS was also directly related to BP SDS, but this association was not independent of the association between obesity and BP when assessed by multiple regression analyzes. CONCLUSION: Measures of SH are strongly associated with BMI and BP in children, although the association between SH and BP is probably dependent on the association of both those variables with BMI. This is (an) important information for correct interpretation of SH values in children.
Bouvet BR, Paparella CV, Arriaga SM
… +3 more, Monje AL, Amarilla AM, Almará AM
Arq Bras Endocrinol Metabol
· 2014 Nov · PMID 25465599
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OBJECTIVE: To evaluate the clinical usefulness of urinary N-acetyl-beta-D-glucosaminidase (NAG) excretion for the detection of early tubular damage in type 2 diabetes mellitus (T2DM). SUBJECTS AND METHODS: Thirty six pat...OBJECTIVE: To evaluate the clinical usefulness of urinary N-acetyl-beta-D-glucosaminidase (NAG) excretion for the detection of early tubular damage in type 2 diabetes mellitus (T2DM). SUBJECTS AND METHODS: Thirty six patients with T2DM were divided into two groups based on urinary albumin to creatinine ratio (ACR): normoalbuminuria (ACR <30 mg/g; n=19) and microalbuminuria (ACR =30-300 mg/g; n=17). The following parameters were determined in both groups: urinary NAG and albumin, serum and urine creatinine, fasting plasma glucose and glycated hemoglobin (HbA1c). RESULTS: Urinary NAG levels [Units/g creatinine; median (range)] were significantly increased in microalbuminuria group [17.0 (5.9 - 23.3)] compared to normoalbuminuria group [4.4 (1.5 - 9.2)] (P<0.001). No differences between groups were observed in fasting glucose, HbA1c, serum creatinine levels and estimated glomerular filtration rates (eGFR). Urinary NAG positively correlated with ACR (r=0.628; p<0.0001), while no significant association was observed between NAG and glycemia, HbA1c, serum creatinine and eGFR. CONCLUSIONS: The increase of urinary NAG at the microalbuminuria stage of diabetic nephropathy (DN) suggests that tubular dysfunction is already present in this period. The significant positive association between urinary NAG excretion and ACR indicates the possible clinical application of urinary NAG as a complementary marker for early detection of DN in T2DM.
Rodríguez AJ, Neeman T, Giles AG
… +2 more, Mastronardi CA, Paz Filho G
Arq Bras Endocrinol Metabol
· 2014 Nov · PMID 25465598
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The clinical manifestations of lipodystrophy syndromes (LS) are hypoleptinemia, hyperglycemia, insulin resistance, dyslipidemia and hepatic steatosis. Leptin replacement therapy (LRT) is effective at improving these path...The clinical manifestations of lipodystrophy syndromes (LS) are hypoleptinemia, hyperglycemia, insulin resistance, dyslipidemia and hepatic steatosis. Leptin replacement therapy (LRT) is effective at improving these pathologies. Currently, there are no data compiling the evidence from the literature, and demonstrating the effect of LRT in LS patients. A systematic review of the MEDLINE and Cochrane Library databases was conducted to identify studies assessing the effect of LRT on metabolic and hepatic endpoints in patients with LS not associated with highly active antiretroviral therapy (HAART) use. Standardized mean differences (SMD) and 95% confidence intervals of pooled results were calculated for overall changes in glucose homeostasis, lipid profile, and hepatic physiology, using an inverse-variance random-effects model. After screening, 12 studies were included for review. Meta-analysis of results from 226 patients showed that LRT decreased fasting glucose [0.75 SMD units (range 0.36-1.13), p=0.0001], HbA1c [0.49 (0.17-0.81), p=0.003], triglycerides [1.00 (0.69-1.31), p<0.00001], total cholesterol [0.62 (0.21-1.02), p=0.003], liver volume [1.06 (0.51-1.61), p=0.0002] and AST [0.41 (0.10-0.73) p=0.01]. In patients with non-HAART LS, LRT improves the outcome of several metabolic and hepatic parameters. Studies were limited by small populations and therefore large prospective trials are needed to validate these findings.
Arq Bras Endocrinol Metabol
· 2014 Oct · PMID 25372590
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Thyrotoxic hypokalemic periodic paralysis (THPP) is an endocrine emergency marked by recurrent attacks of muscle weakness associated with hypokalemia and thyrotoxicosis. Asiatic male patients are most often affected. On...Thyrotoxic hypokalemic periodic paralysis (THPP) is an endocrine emergency marked by recurrent attacks of muscle weakness associated with hypokalemia and thyrotoxicosis. Asiatic male patients are most often affected. On the other hand, African descents rarely present this disease. The case described shows an afrodescendant patient with hypokalemia and tetraparesis, whose diagnosis of hyperthyroidism was considered during this crisis. The THPP, although rare, is potentially lethal. Therefore, in cases of flaccid paresis crisis this diagnosis should always be considered, especially if associated with hypokalemia. In this situation, if no previous diagnosis of hyperthyroidism, this should also be regarded.
Karras SN, Koutelidakis I, Anagnostis P
… +3 more, Mintziori G, Pontikides N, Goulis DG
Arq Bras Endocrinol Metabol
· 2014 Oct · PMID 25372589
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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 co...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.
Afonso P, Ferraria N, Carvalho A
… +1 more, Castro SV
Arq Bras Endocrinol Metabol
· 2014 Oct · PMID 25372588
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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-o...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.
Nascimento ML, Cristiano AN, Campos Td
… +6 more, Ohira M, Cechinel E, Simoni G, Lee Jv, Linhares RM, Silva PC
Arq Bras Endocrinol Metabol
· 2014 Oct · PMID 25372587
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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...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.