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1.
Acta Endocrinol (Buchar) ; 19(2): 260-266, 2023.
Article in English | MEDLINE | ID: mdl-37908885

ABSTRACT

Background: Multiple endocrine neoplasia type 2B (MEN 2B) is a rare hereditary syndrome caused mainly by Met918Thr germline RET mutation and characterized by medullary thyroid carcinoma (MTC), pheochromocytoma (PHEO), and typical phenotypic features. MEN 2B cases previously reported in the literature have variable clinical course. Objectives: We aimed to discuss the characteristics of four MEN 2B cases with unusual presentations,clinical course and review the recent clinical data on MEN2B. Results: All patients had de novo M918T mutation and no family history. The mean age of patients was 38.2 years (27-56). Two patients had typical phenotypic features of MEN 2B; the other two patients had no striking phenotypic features. First detected MEN 2B component was MTC in two, intestinal ganglioneuromatosis in one, and PHEO in one of the cases. Bilateral PHEO was detected in all four cases. Conclusions: MEN 2B is a complex syndrome characterized by wide phenotypic variability and different clinical outcomes. To diagnose sporadic MEN 2B cases, genetic testing should be performed in all cases with suspicious clinical features. Although early diagnosis is the main factor that increases life expectancy, some MEN 2B patients with late diagnosis may exhibit a mild clinical course and better prognosis than expected, with effective treatment.

2.
J Endocrinol Invest ; 45(4): 865-874, 2022 Apr.
Article in English | MEDLINE | ID: mdl-35023078

ABSTRACT

PURPOSE: Subacute thyroiditis(SAT) is a destructive thyroiditis associated with viral infections. Several SAT cases associated with SARS-CoV-2 infection/vaccination were recently reported. We aimed to evaluate prospectively all cases applied to our tertiary center and their relationship with SARS-CoV-2 during 16 months of the pandemic. Cases during similar pre-pandemic period were recorded for numeric comparison. METHODS: Prospective study took place between March 2020 and July 2021. SAT was diagnosed by classical criteria. Swabs for SARS-CoV-2 and a wide respiratory viral panel (RV-PCR) were taken. Previous COVID-19 was assessed by SARS-CoV-2 IgM&IgG levels. Study group was divided into three as: CoV-SAT, patients who had or still have COVID-19, Vac-SAT, patients diagnosed within three months after SARS-CoV-2 vaccination and NonCoV-SAT, those not associated with COVID-19 or vaccination. RESULTS: Out of 64 patients, 18.8% (n = 12) was classified as CoV-SAT, 9.3% (n = 6) as Vac-SAT and 71.9% as (n = 46) NonCoV-SAT. SARS-CoV-2 RT-PCR tests on the diagnosis of SAT were negative in all, but two patients tested positive five days later, in second testing, performed upon clinical necessity. CoV-SAT and NonCoV-SAT groups were similar in terms of clinical, laboratory, and treatment characteristics. However, symptoms were milder and treatment was easier in Vac-SAT group (p = 0.006). CONCLUSIONS: Total number of SAT cases during the pandemic period was comparable to pre-pandemic period. However, a considerable rate of SARS-CoV-2 exposure in SAT patients was established. COVID-19 presented with SAT, as the first manifestation in three cases. Vaccine-related cases developed in a shorter time period, clinical presentation was milder, and only a few required corticosteroids.


Subject(s)
COVID-19 Vaccines/adverse effects , COVID-19/complications , Thyroiditis, Subacute/epidemiology , Adolescent , Adult , Aged , Aged, 80 and over , COVID-19/epidemiology , COVID-19/prevention & control , Female , Humans , Male , Middle Aged , Pandemics , Prospective Studies , Thyroiditis, Subacute/etiology , Young Adult
3.
Acta Endocrinol (Buchar) ; 17(4): 472-478, 2021.
Article in English | MEDLINE | ID: mdl-35747864

ABSTRACT

Context: Although, many studies have been made on the clinical course of autoimmune thyroiditis, this study focused on women and the factors effecting the natural course such as Selenium. Objective: The study aimed to determine Hashimoto's thyroiditis (HT) clinical course in adults and the factors that could affect it. Design: The study was in a retrospective manner between 2010-2018. Subjects and Methods: 101 patients with HT were followed for 60.7±32.7 months. Biochemical and ultrasonographic data were collected. We investigated whether the age at diagnosis, family history, smoking habits, levothyroxine replacement therapy, and serum selenium (Se) levels influenced the disease course. Results: No relationship was observed between age and thyroid functions, thyroid volumes (TV), and autoantibody (Ab) levels at diagnosis. Ab levels were irrelevant with TV, echogenicity, and nodularity at diagnosis. However, initial TSH levels were significantly associated with anti-TPO levels (p=0.028, r=0.218). In the untreated group, thyroid functions seemed to be stable. TV decreased significantly in both treated and untreated patients (p<0.001). The decrease in TV was significantly higher in the treatment group (p=0.002). In euthyroid and subclinical hypothyroid patients, levothyroxine therapy did not affect the decrease in TV. Ab levels remained stable in untreated patients, but anti-TPO levels significantly decreased in treated patients (p<0.001). Smoking seemed to increase only anti-Tg levels (p=0.009). Family history was not associated with any of the studied parameters. Serum Se level was negatively correlated only with thyroid echostructure and only in treated patients. TV showed a "Gaussian distribution" in all patients at the diagnosis and at the end, independent of levothyroxine treatment. Conclusions: Most euthyroid patients remained euthyroid during five years of follow-up. The decrease in TV was significantly prominent with LT4 treatment. Importantly, TV followed a normal distribution instead of the bimodal distribution that is classically described.

4.
Acta Endocrinol (Buchar) ; 17(3): 337-345, 2021.
Article in English | MEDLINE | ID: mdl-35342477

ABSTRACT

Introduction: Our goal was to evaluate and compare the diagnostic utility of thyroid hormone withdrawal (THW) and recombinant thyroid-stimulating hormone (rhTSH) methods in detecting recurrence/persistence (R/PD) of differentiated thyroid carcinoma (DTC). Methods: The study included 413 patients with DTC who underwent total thyroidectomy and had remnant ablation. DxWBS, s-Tg levels, R/PD were evaluated retrospectively. A s-Tg level≥2 ng/mL was considered as "positive s-Tg". Results: DxWBS and s-Tg levels were evaluated with rhTSH in 116 and THW in 297 subjects, respectively. The sensitivity and specificity of "positive s-Tg" for R/PD in THW group were 77.3% and 92.7%, with 90.3% accuracy, respectively. The sensitivity and specificity of "positive s-Tg" for R/PD in rhTSH group were 58.8% and 100% with 93.9 % accuracy, respectively. An uptake outside thyroid bed at WBS showed a sensitivity of 17.1%, specificity of 100% for R/PD with 89.4% accuracy in THW group. An uptake outside thyroid bed at WBS showed a sensitivity of 7.7%, specificity of 100% for R/PD with 88.8% accuracy in rhTSH group. Conclusion: Method of TSH stimulation did not influence the reliability of DxWBS. The "positive s-Tg level" had a higher sensitivity with THW when compared to rhTSH in detecting R/PD.

5.
Acta Endocrinol (Buchar) ; 16(2): 232-235, 2020.
Article in English | MEDLINE | ID: mdl-33029241

ABSTRACT

An 81-year-old woman presented with a history of essential hypertension for eight years and an asymptomatic multinodular goiter that had been incidentally discovered on neck ultrasonography two years ago and an-isohypoechoic mass lesion located adjacent to the right lobe inferior pole of the thyroid gland. Parathyroid adenoma or lymphadenopathy were the differential diagnosis. After two years, the endocrine surgeon decided to operate her multinodular goiter and her probably benign lesion. Intraoperatively, the blood pressure and pulse rate increased markedly and intravenous antihypertensive treatment was administered. She was discharged after blood pressure control. A 2 mm micromedullary thyroid carcinoma with C-cell hyperplasia located on the left lobe of the thyroid was detected. The aforementioned mass lesion was also reported as typical cervical paraganglioma. Because of concomitant medullary thyroid carcinoma with C-cell hyperplasia and paraganglioma the patient was subjected to genetic counseling and molecular testing for hereditary cancer syndromes. A variation of the succinate dehydrogenase gene D (SDHD) NM_003002.3: c.325C> T (Gln109Term) has been reported as the disease-causing mutation. Herein we present a case diagnosed for neck paraganglioma and medullary thyroid carcinoma after an intraoperative hypertensive crisis.

6.
Br J Nutr ; 115(3): 405-10, 2016 Feb 14.
Article in English | MEDLINE | ID: mdl-26596695

ABSTRACT

I is essential for thyroid hormone synthesis and neurological development. Various changes occur in thyroid hormone metabolism during pregnancy and I requirements increase significantly. The purpose of this study was to investigate I status among pregnant women in Trabzon, formerly a severely I-deficient area but shown to have become I sufficient following mandatory iodisation of table salt based on monitoring studies among school-age children (SAC) in the area. A total of 864 healthy pregnant women with a median age of 28 (25th-75th percentile 17-47) years participated in the study. None of them were using I-containing supplement. All of them were screened for use of iodised salt, obstetric history, thyroid function tests and urinary I concentrations (UIC), and thyroid ultrasonography was performed. Median UIC was 102 (25th-75th percentile=62-143) µg/l. Median UIC of the patients according to trimesters were 122 µg/l at the 1st, 97 µg/l at the 2nd and 87 µg/l at the 3rd trimester. UIC in the 1st trimester was higher compared with the 2nd and 3rd trimesters (P<0·017). Nodules were present in 17·7% of women (n 153). The rate of iodised salt usage among pregnant women was 90·7%. Our study demonstrates that, although the I status among SAC has been rectified, I deficiency (ID) is still prevalent among pregnant women. Current knowledge is in favour of I supplementation in this group. Until the effects of maternal I supplementation in mild ID have been clarified by large-scale prospective controlled trials, pregnant women living in borderline defficient and I-sufficient areas, such as Trabzon city, should receive 100-200 µg/d of I-containing supplements in addition to iodised salt.


Subject(s)
Iodine/blood , Iodine/urine , Nutritional Status , Sodium Chloride, Dietary/administration & dosage , Adolescent , Adult , Dietary Supplements , Dose-Response Relationship, Drug , Fasting , Female , Humans , Iodine/administration & dosage , Pregnancy , Pregnancy Trimesters/drug effects , Pregnancy Trimesters/metabolism , Prospective Studies , Thyroid Gland/metabolism , Thyroid Hormones/blood , Young Adult
7.
Eur Thyroid J ; 2(3): 147-59, 2013 Sep.
Article in English | MEDLINE | ID: mdl-24847448

ABSTRACT

Cervical ultrasound scanning (US) is considered a key examination, by all major thyroid and endocrine specialist societies for the postoperative follow-up of thyroid cancer patients to assess the risk of recurrence. Neck US imaging is readily available, non-invasive, relatively easy to perform, cost-effective, and can guide diagnostic and therapeutic procedures with low complication rates. Its main shortcoming is its operator-dependency. Because of the pivotal role of US in the care of thyroid cancer patients, the European Thyroid Association convened a panel of international experts to review technical aspects, indications, results, and limitations of cervical US in the initial staging and follow-up of thyroid cancer patients. The main aim is to establish guidelines for both a cervical US scanning protocol and US-guided diagnostic and therapeutic procedures in patients with thyroid cancer. This report presents (1) standardization of the US scanning procedure, techniques of US-guided fine-needle aspiration, and reporting of findings; (2) definition of criteria for classification of malignancy risk based on cervical US imaging characteristics of neck masses and lymph nodes; (3) indications for US-guided fine-needle aspiration and for biological in situ assessments; (4) proposal of an algorithm for the follow-up of thyroid cancer patients based on risk stratification following histopathological and cervical US findings, and (5) discussion of the potential use of US-guided localization and ablation techniques for locoregional thyroid metastases.

8.
J Endocrinol Invest ; 32(7): 617-22, 2009 Jul.
Article in English | MEDLINE | ID: mdl-19564718

ABSTRACT

OBJECTIVES: To evaluate the current nationwide iodine status in Turkey by determining urinary iodine concentrations (UIC) and household salt iodine content. A follow- up monitoring study was also conducted in 30 urban areas. METHODS: A school-based survey was conducted in 2007 by using multistage 'proportionate to population size' (PPS) cluster sampling method. The study population was composed of 900 school-age children (SAC) from different urban, suburban, and rural areas. UIC and iodine content of the table salt used at home were analyzed. RESULTS: Median UIC was 107 microg/l (147 in urban, 42 in suburban and rural areas, p<0.001). There were severe iodine deficiency (ID) in 7.2%, moderate and mild ID in 20.6% and 19.3%, of the SAC, respectively. UIC was sufficient (>100 microg/l) in 50% of the study population, whereas it was excessive (>300 microg/l) in 10.5% of them. Of the 900 salt samples, 662 (73.5%) were iodized and 508 samples (56.5%) contained adequately iodized salt (iodine content >15 ppm). UIC of the study population and salt iodine levels correlated well (r=0.42, p<0.001). CONCLUSIONS: Moderate to severe ID still exists in 27.8% of the Turkish population, which is much better compared to 1997 and 2002 surveys (i.e. 58%, 38.9%, respectively). The follow-up monitoring study (in 2007) demonstrated that ID has been eliminated in 20 of 30 cities surveyed, and median UIC was 130 microg/l. ID has been eliminated in most of the urban population, however, it is still an important problem in rural areas and in particular geographical regions, which should be the target of future programs.


Subject(s)
Goiter, Endemic , Iodine/chemistry , Animals , Child , Follow-Up Studies , Goiter, Endemic/epidemiology , Goiter, Endemic/urine , Humans , Iodine/deficiency , Iodine/urine , Nutrition Assessment , Nutritional Status , Population , Sodium Chloride, Dietary , Turkey/epidemiology
9.
Int J Immunogenet ; 36(2): 103-6, 2009 Apr.
Article in English | MEDLINE | ID: mdl-19284444

ABSTRACT

We previously shown that in a Turkish population, the A/G polymorphism in exon 1 of the cytotoxic T cell lymphocyte-associated molecule-4 (CTLA-4) gene is associated with Graves' disease, and that the G allele may contribute to susceptibility for developing Graves' disease. This polymorphism was identified in 197 patients with Hashimoto thyroiditis (HT) (126 women, 71 men; aged, 42.92 +/- 13.4 years) and 98 healthy individuals (56 women, 21 men; aged, 42.27 +/- 13.43 years) in Turkish population. Polymorphisms were analysed using a polymerase chain reaction-restriction fragment length polymorphism method. Frequency of the A/G genotypes was not significantly different in patients with HT when compared with controls in both sexes (P > 0.05). There was no statistical difference in age, sex, cigarette smoking, initial serum thyroid hormone levels, initial goiter size and thyroid autoantibodies among the patients with the three different genotypes (G/G, A/G and A/A). We concluded that A/G polymorphism of CTLA molecule is linked to occurrence of Graves' disease bu not to HT in the Turkish population.


Subject(s)
Antigens, CD/genetics , Graves Disease/genetics , Hashimoto Disease/genetics , Adult , Alleles , CTLA-4 Antigen , Female , Gene Frequency , Genotype , Hashimoto Disease/immunology , Humans , Male , Middle Aged , Polymorphism, Genetic , Sex Factors , Turkey
10.
J Endocrinol Invest ; 29(10): 858-62, 2006 Nov.
Article in English | MEDLINE | ID: mdl-17185892

ABSTRACT

Several single nucleotide polymorphisms (SNP) of the RET gene have been identified in medullary thyroid carcinoma (MTC) patients as well as in the general population. However, the relevance of SNP for MTC patients is still controversial, whether these allelic variants play other interacting, predisposing or modifying roles in clinical behavior of MTC. The aim of this work is to elaborate allelic frequencies of the RET proto-oncogene polymorphisms in Turkish sporadic MTC patients and to demonstrate if there is an association between SNP and the clinical disease features, specifically the age at onset of MTC and lymph node involvement at diagnosis. We analyzed the allelic frequencies of SNP of the exon 11, 13, 14 and 15 of the RET proto-oncogene in blood samples from 50 sporadic MTC patients, using the polymerase chain reaction methodology followed by DNA sequencing. The observed allelic frequencies were 24% for G691S polymorphism in exon 11, 29% for L769L polymorphism in exon 13, 5% for S836S polymorphism in exon 14, and 26% for S904S polymorphism in exon 15. These frequencies are similar to those reported in other countries. We did not observe any significant association of all four SNP with the age at onset of MTC. Our results indicate a possible association between the presence of lymph node involvement at the time of diagnosis (extent of disease) and L769L or S836S polymorphism. However, it is not possible to draw definitive conclusions that these two polymorphisms play a significant role in clinical behavior of MTC. Further studies are needed to evaluate the role of this polymorphism in the clinical behavior of MTC.


Subject(s)
Carcinoma, Medullary/genetics , Polymorphism, Single Nucleotide/genetics , Proto-Oncogene Proteins c-ret/genetics , Thyroid Neoplasms/genetics , Adult , Age of Onset , Carcinoma, Medullary/pathology , DNA, Neoplasm/genetics , Exons/genetics , Female , Gene Frequency/genetics , Humans , Lymphatic Metastasis/genetics , Male , Middle Aged , Proto-Oncogene Mas , Thyroid Neoplasms/pathology , Turkey
11.
J Endocrinol Invest ; 29(9): 771-5, 2006 Oct.
Article in English | MEDLINE | ID: mdl-17114906

ABSTRACT

Gastrin and pentagastrin stimulate thyroid C cells and elevate serum calcitonin levels. Gastrin levels may be elevated when histamine-2 receptor blockers (H2RB) and/or proton pump inhibitors (PPI) are used, or in patients with pernicious anemia (PA). This study was designed to investigate the long-term effects of elevated gastrin levels on serum calcitonin levels. We conducted a pentagastrin stimulation test to evaluate C cell reserves in patients who had been using PPI and/or H2RB for an extended period, as well as in patients with PA. We compared the results with a healthy control group of similar age and sex. A total of 40 controls (26 women, 24 men) and 25 patients (15 women, 10 men) using H2RB and/or PPI, and 37 patients (24 women, 13 men) with PA were enrolled. The groups were similar in terms of mean age and sex distribution. Mean fasting gastrin levels, and mean baseline and pentagastrin-stimulated calcitonin levels were significantly higher in the H2RB+PPI and PA groups than in controls. No significant differences were observed between the H2RB+PPI and PA groups. There was no correlation between gastrin and calcitonin levels. However, mean calcitonin levels were significantly higher in subjects with high baseline gastrin levels than in controls. The prevalence of autoimmune thyroid disease was 32% in the PA group. Patients with PA and thyroiditis had significantly higher baseline gastrin levels than patients with PA only (p<0.01). PA with autoimmune thyroid disease had also significantly higher baseline and pentagastrin-stimulated calcitonin levels than did PA patients without autoimmune thyroid disease. In conclusion, chronic elevated gastrin levels led to elevated calcitonin levels. Further histopathological studies showing C cell hyperplasia are needed to confirm the mechanism of this relationship.


Subject(s)
Calcitonin/metabolism , Gastrins/blood , Adult , Anemia, Pernicious/blood , Anemia, Pernicious/etiology , Calcitonin/blood , Female , Gastric Juice/drug effects , Gastrins/pharmacology , Gastritis, Atrophic/blood , Gastritis, Atrophic/complications , Hematologic Tests/methods , Histamine Antagonists/therapeutic use , Humans , Male , Middle Aged , Pentagastrin/pharmacology , Proton Pump Inhibitors , Thyroid Gland/cytology , Thyroid Gland/drug effects , Time
12.
J Endocrinol Invest ; 29(4): 363-6, 2006 Apr.
Article in English | MEDLINE | ID: mdl-16699305

ABSTRACT

Pheochromocytoma may infrequently lead to dilated cardiomyopathy, which may reverse partially or completely after treatment. Progressive dyspnea, palpitations, and paroxysmal attacks of severe hypertension leading to cardiac failure had developed in a 25-yr-old woman. Chest radiography and echocardiography revealed a massive 4-chamber dilatation of the heart with an ejection fraction of 12%. Twenty-four-h urinary vanillylmandelic acid and metanephrine levels were elevated. Magnetic resonance imaging detected a large mass lesion in the right adrenal gland. Oral glucose tolerance testing revealed diabetes mellitus. Medical drug therapy with alpha-blocker, angiotensin converting enzyme inhibitor, beta-blocker, digoxin, and diuretic rapidly improved her cardiac condition. Repeat echocardiogram showed that the left ventricular function had improved substantially. The clinical condition of excess catecholaminemia (and thus, arterial hypertension and the abnormality of the glucose metabolism) subsided with complete resolution of the congestive heart failure following the surgical removal of the tumor. Evaluation for medullary thyroid carcinoma (MTC) revealed an elevated calcitonin level demonstrated by fine needle aspiration biopsy. There were no biochemical evidences for primary hyperparathyroidism. Multiple endocrine neoplasia 2 (MEN 2A) syndrome was diagnosed. An overwhelming secretion of catecholamine might cause severe cardiomyopathy and impair glucose metabolism, as evidenced by the improvement of both conditions following the medical treatment of catecholaminemia and surgical resection of the tumor.


Subject(s)
Adrenal Gland Neoplasms/complications , Cardiomyopathy, Dilated/etiology , Multiple Endocrine Neoplasia Type 2a/complications , Pheochromocytoma/complications , Adrenal Gland Neoplasms/surgery , Adult , Cardiomyopathy, Dilated/chemically induced , Diabetes Mellitus/etiology , Female , Glucose Tolerance Test , Humans , Metanephrine/urine , Pheochromocytoma/surgery , Vanilmandelic Acid/urine
13.
Eat Weight Disord ; 11(4): e127-32, 2006 Dec.
Article in English | MEDLINE | ID: mdl-17272944

ABSTRACT

To describe the comparative efficacy of orlistat and sibutramine in an obesity management program, with specific attention to compliance and weight regains after noncompliance. We prospectively evaluated 182 obese patients who were randomized to treatment with orlistat (n=98) or sibutramine (n=84) along with the diet and exercise prescriptions. Compliance (or compliant patient) was defined as adherence to scheduled visit times (at 3- month intervals) and following the prescribed drug regimen. A telephone survey was conducted in case of noncompliance. Significant body weights improvements were seen in both treatment groups. Patients lost a mean of 7.6+/-2.8% and 10.5+/-2.9% of initial body weights after a mean drug use of 8.8+/-5.7 and 8.3+/-3.7 months in the orlistat and sibutramine groups, respectively (p<0.05 vs. initial body weight). Patients in the sibutramine group lost more weight than the orlistat group (p<0.05). A total of 102 patients (56%) were compliant (53.1% in the orlistat group and 59.5% in the sibutramine group). Factors associated with compliance included weight reduction of more than 5% in the first 3 months and adherence to physical activity. Higher initial body weight, prior anti-obesity therapy, number of concurrent medications, and comorbidity were associated with noncompliance. Weight regains in noncompliant patient were a mean of 5.2+/-5.1 kg after a mean period of 9.2+/-4.2 months in the orlistat group, and a mean of 6.1+/-3.8 kg after a mean period of 9.1+/-3.9 months in the sibutramine group (p<0.05 vs. last visit for both groups, p>0.05 between groups). Both drugs in an obesity management program can achieve substantial weight loss. However, noncompliance and rebound weight regain after noncompliance are considerable problems.


Subject(s)
Anti-Obesity Agents/therapeutic use , Cyclobutanes/therapeutic use , Lactones/therapeutic use , Obesity/drug therapy , Adult , Appetite Depressants/therapeutic use , Combined Modality Therapy , Diet, Reducing , Exercise Therapy , Female , Humans , Male , Middle Aged , Orlistat , Patient Compliance , Prospective Studies , Weight Gain , Weight Loss
14.
J Endocrinol Invest ; 28(9): 806-9, 2005 Oct.
Article in English | MEDLINE | ID: mdl-16370559

ABSTRACT

OBJECTIVE: Medullary thyroid carcinoma (MTC) frequently occurs in a sporadic form, but a substantial number of cases are hereditary and appear as part of the multiple endocrine neoplasia type 2 (MEN2) syndromes. Germline mutations in ret proto-oncogene have been shown to be the underlying cause of MEN2 syndromes. DESIGN: We carried out a multi-center study that aimed to perform mutational analysis of so called sporadic MTC patients. METHODS: Fifty-six MTC patients verified by histopathologic examination were subjected to genetic analysis. Exon 10, 11, 13, 14, 15 and 16 of the ret gene were analyzed by DNA sequencing and restriction enzyme digestion method. RESULTS: Among 56 apparently sporadic MTC patients, we identified 6 (10.7%) ret germline mutation carriers. Three individuals carried mutations at codon 634 in exon 11, one at codon 618 in exon 10, and two at codon 804 in exon 14. Identification of the predisposition gene mutation has allowed DNA-based strategy for direct mutation detection in patients with apparently sporadic MTCs. A substantial number of patients with apparently sporadic MTC carried germline mutations and 50% of their first degree relatives are expected to have or to develop MTC and/or other endocrine tumors. CONCLUSIONS: These results indicate the importance of careful genetic surveillance of any patient with apparently sporadic MTCs.


Subject(s)
Carcinoma, Medullary/genetics , Germ-Line Mutation , Proto-Oncogene Proteins c-ret/genetics , Thyroid Neoplasms/genetics , Adult , Exons , Female , Heterozygote , Humans , Male , Middle Aged , Pedigree , Proto-Oncogene Mas , Turkey/ethnology
15.
J Endocrinol Invest ; 28(8): 734-7, 2005 Sep.
Article in English | MEDLINE | ID: mdl-16277170

ABSTRACT

We hereby present a rare variant of multiple endocrine neoplasia type 2A (MEN2A) associated with a rare skin disease primary cutaneous lichen amyloidosis and discrete malignant pheochromocytoma in both adrenal glands and pancreatic tail, and interestingly accompanied ganglioneuroma located in retroperitoneum in a 34-yr-old female. The presence of composite tumor of pheochromocytoma and ganglioneuroma arising in the adrenal glands has been described previously in MEN2A and in sporadic cases. The patient displayed classical signs and symptoms of catecholamine excess. Biochemical screening proved pheochromocytoma. Computed tomography revealed multiple mass lesions in both adrenal glands. It also showed a large heterogeneous mass that clearly discriminated from right adrenal gland in retroperitoneal location. After surgical exploration, both adrenal glands and the suspicious mass in pancreatic tail were removed successfully together with subtotal resection of the retroperitoneal tumor. Histopathologic examinations confirmed the presence of pheochromocytoma in both adrenal glands as well as pancreatic lesion. A retroperitoneal ganglioneuroma was also present. Symptomatic and biochemical evidence of pheochromocytoma subsided after the operation. Further evaluation for medullary thyroid carcinoma and primary hyperparathyroidism confirmed MEN2A. Mutation analysis of the ret proto-oncogene revealed a missense point mutation at position 634 in exon 11, which gives rise to the substitution of a cysteine codon with a tyrosine residue.


Subject(s)
Adrenal Gland Neoplasms/pathology , Ganglioneuroma/pathology , Multiple Endocrine Neoplasia Type 2a/pathology , Pheochromocytoma/secondary , Retroperitoneal Neoplasms/pathology , Adult , Amyloidosis/complications , Female , Humans , Proto-Oncogene Mas , Retroperitoneal Neoplasms/secondary
16.
J Endocrinol Invest ; 26(2): 128-31, 2003 Feb.
Article in English | MEDLINE | ID: mdl-12739739

ABSTRACT

Incidence of nodular thyroid disease as well as that of functioning thyroid nodules (FTN) increases dramatically in iodine deficient (ID) areas. Cancer is extremely rare in FTN; thus, some do not routinely biopsy and treat them with radioactive iodine (RAI) straight away or follow-up. The outcome of 296 patients followed or treated at our institution for solitary or multiple FTN were retrospectively evaluated. Hospital records of 224 female, 72 male patients, with a mean +/- SD age of 54.9 +/- 12.4 yr and followed for 22 (0-156) months were examined. 175 patients had solitary, 121 had multiple hot or warm nodules. 230 (77.7%) of the patients received RAI treatment. 402 fine needle aspiration biopsies (FNABs) were performed on 260 patients and on 343 FTN (381 benign and 21 suspicious diagnoses). Eleven of the patients were operated for suspicious FNAB results and 10 were followed-up. Only one nodule turned out to be malignant. Malignancy is extremely rare in functioning thyroid nodules (0.34%) and some of malignant cases could be predicted by their suspicious clinical features. Routine practice of treating FTN with RAI therapy is reasonable in clinically low-risk patients. FNAB is reserved for cases with suspicious clinical features, resulting in fewer surgeries and reduced cost.


Subject(s)
Biopsy, Fine-Needle , Goiter, Endemic/pathology , Iodine Radioisotopes/therapeutic use , Iodine/deficiency , Thyroid Nodule/pathology , Female , Goiter, Endemic/surgery , Humans , Male , Middle Aged , Retrospective Studies , Thyroid Nodule/radiotherapy , Thyroid Nodule/surgery
17.
J Endocrinol Invest ; 25(3): 224-8, 2002 Mar.
Article in English | MEDLINE | ID: mdl-11936463

ABSTRACT

Endemic goiter is an important public health problem in Turkey. Legislation for mandatory iodization of household salt was passed in July 1999. Current study is aimed at ascertaining the goiter prevalence and iodine nutrition in school-age children (SAC) living in known endemic areas of Turkey. Sonographic thyroid volumes (STV) and urinary iodine concentrations (UIC) of 5,948 SAC from 20 cities were measured between 1997-1999. STV of 31.8% of the SAC examined stayed above the upper-normal limits for the same age and gender recommended by the World Health Organization (WHO). Goiter prevalence ranged between 5 to 56% and median UIC ranged between 14 to 78 microg/l, indicating severe to moderate iodine deficiency (ID) in 14 and mild ID in 6 of the cities surveyed. Neither of the cities was found to have sufficient median UIC levels. The current study shows that endemic goiter is an important public health problem and iodine nutrition is inadequate nationwide. It also provides reliable scientific evidence and shows the need for a controlled and effective iodine supplementation program nationwide. Mandatory iodization of household salt seems to be the essential measure taken for the moment, additional measures may be needed in the near future.


Subject(s)
Goiter/epidemiology , Iodine/administration & dosage , Iodine/deficiency , Nutritional Status , Child , Endemic Diseases , Female , Humans , Iodine/urine , Male , Thyroid Gland/diagnostic imaging , Turkey/epidemiology , Ultrasonography
18.
Biol Trace Elem Res ; 79(2): 121-30, 2001 Feb.
Article in English | MEDLINE | ID: mdl-11330518

ABSTRACT

Iodine deficiency (ID) and related disorders are still major, yet unresolved health concerns. Recently, in a systematic survey of school-age children (SAC), we reported severe to moderate ID, in Ankara and three cities from Black Sea region of Turkey. The current study attempted to evaluate selenium (Se) status, thiocyanate (SCN-) overload, and their possible contribution to the goiter endemics and thyroid hormone profile observed in these cities. Thyroid ultrasonography was performed and serum Se, SCN(-), thyroid hormones, sensitive TSH (sTSH) levels, and, urinary iodine concentrations (UICs) were determined from 251 SAC (9-11 yr old). Thyroid volumes (TVs) exceeding recommended upper normal limits and median UIC indicated goitre endemics and moderate to severe ID in the areas studied. Mean serum SCN(-) concentrations were found to be greater than the controls from the literature. The UIC/SCN(-) ratio was found to be lowest in Bayburt and Trabzon denoting that SCN(-) overload may contribute to the goiter endemics. Serum Se concentrations represent a marginal deficiency in the four areas studied. No significant correlations between serum Se concentrations and the other parameters studied (i.e., TV, SCN(-), thyroid hormones, sTSH, UIC) was detected. In conclusion, this study showed that selenium is also marginally deficient in the iodine-deficient endemic areas studied, but this has little or no impact on the thyroid hormone profile and the goiter endemics. SCN(-) overload may contribute to the endemics, especially for the areas where iodine is severely deficient. An effective iodine supplementation program will not only resolve the goiter endemics but also the consequence of SCN(-) overload as well in the endemic goiter areas studied.


Subject(s)
Goiter/blood , Selenium/blood , Thiocyanates/blood , Age Factors , Child , Female , Goiter/prevention & control , Humans , Iodine/urine , Male , Thyroglobulin/blood , Thyroid Gland/diagnostic imaging , Thyroid Hormones/blood , Thyrotropin/blood , Ultrasonography
19.
Clin Rheumatol ; 20(6): 401-5, 2001.
Article in English | MEDLINE | ID: mdl-11771522

ABSTRACT

Twenty patients with fibromyalgia syndrome (FMS) and 20 matched healthy controls were subjected to an exercise stress test above their anaerobic threshold. Serum samples for the measurement of growth hormone (GH), insulin-like growth factor-1 (IGF-1), prolactin (PRL), adrenocorticotrophic hormone (ACTH) and cortisol were taken prior to and after the test at 30-min intervals. Compared to the controls, the patients with FMS displayed significantly lower basal GH levels and slightly, though significantly, higher prolactin levels. Following the exercise test there was a significant increase in the mean GH level in the patient group (P = 0.0474) and a significant decrease in the control group (P = 0.0286) 1 hour after the exercise. A slight decrease in ACTH levels in the control group was observed (P = 0.0002), but there was no significant change in FMS patients. Cortisol levels were significantly lower in both groups after the exercise (P = 0.0001). These results suggest the possibility of a perturbation in hormonal response to exercise in patients with FMS.


Subject(s)
Adrenocorticotropic Hormone/metabolism , Exercise Test , Exercise/physiology , Fibromyalgia/physiopathology , Human Growth Hormone/metabolism , Hydrocortisone/metabolism , Insulin-Like Growth Factor I/metabolism , Prolactin/metabolism , Adult , Anaerobic Threshold , Circadian Rhythm , Exercise Therapy , Female , Fibromyalgia/therapy , Humans , Hydrocortisone/blood , Hypothalamo-Hypophyseal System/metabolism , Middle Aged , Pituitary-Adrenal System/metabolism
20.
J Endocrinol Invest ; 23(2): 74-7, 2000 Feb.
Article in English | MEDLINE | ID: mdl-10800758

ABSTRACT

In an epidemiological study carried out in eight different inland and coastal areas from northern part of Cyprus Island 625 School Age Children (SAC) aged 9 and 10 years, underwent thyroid ultrasonography for determination of thyroid volume (TV). Urinary iodine concentration (UIC) was measured from morning urine samples taken from all of the children. Mean TV was 3.2+/-1.0 ml, 3.3+/-0.8 ml and 3.8+/-1.1 ml, 3.7+/-1.1 ml for 9- and 10-year-old girls and boys respectively. None of the SAC had TV exceeding recommended upper limits for their age and gender. Median UIC of the whole group was 120 microg/l (11-900 microg/l) and only 12.6% of the SAC had UIC below 50 microg/l indicating adequate iodine intake. In this first epidemiological survey conducted in the northern part of the Cyprus Island, iodine status was found to be satisfactory and goiter does not pose a public health problem at the time of the study. Periodical surveys are required especially for the regions which have marginally adequate values and for a coastal region with a significantly higher median value of UIC compared to the others (ie 458 microg/l) (p<0.001).


Subject(s)
Iodine/metabolism , Thyroid Gland/anatomy & histology , Child , Cyprus/epidemiology , Female , Humans , Iodine/urine , Male , Nutritional Status , Thyroid Gland/diagnostic imaging , Ultrasonography
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