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A prospective study of thyroid ultrasound scan in the clinically solitary thyroid nodule.

Thyroid ultrasound differentiates solid from cystic lesions, solitary nodules from multinodular and diffuse enlargement, and extrathyroidal lesions. Two hundred consecutive patients with a clinically solitary thyroid nodule were investigated by ultrasound examination, thyroid function test, and thyroid auto-antibodies. Patients with confirmed solitary solid, or mixed solid and cystic nodules underwent surgery as well as those with cysts, multinodular or diffuse goitres with pressure symptoms, recurrent haemorrhage or relapsing hyperthyroidism. Comparison between the ultrasound and ultimate pathological findings in the 101 patients who underwent surgery showed that they were in agreement in 96 cases. The remaining 99 patients with cystic, multinodular or diffuse lesions have been followed up for a mean of two years. Nearly 50% of patients with a clinically solitary thyroid nodule have avoided surgery.

Adolescent↗

Primary empty sella syndrome with panhypopituitarism, diabetes insipidus, and visual field defects.

A 58 year old woman with a history of hypothyroidism was evaluated for marked visual impairment and found to have the primary empty sella syndrome with multiple endocrine abnormalities. Visual field determination revealed preservation of vision only in the left inferior quadrants bilaterally. Failure of growth hormone (hGH), cortisol and prolactin to respond to insulin induced hypoglycaemia (0.1 U/kg), of luteinizing hormone (LH) and follicle stimulating hormone (FSH) to respond to gonadotrophin releasing hormone (GnRH, 100 microgram) and of thyrotrophin (TSH) and prolactin to increase after thyrotrophin releasing hormone (TRH, 500 microgram), confirmed the diagnosis of panhypopituitarism. Following water deprivation with a 9% loss in body weight, her urine osmolality remained at 204 mOsm./kg H2O), indicating that she had posterior pituitary deficiency as well. During surgical exploration, which was performed in an effort to improve her markedly impaired vision, a compromised vascular supply to the left optic nerve and chronic arachnoiditis was demonstrated. This case represents one extreme of functional impairment in a syndrome which is generally considered benign and which rarely requires therapeutic intervention. Our patient is compared to 29 reported cases of the primary empty sella syndrome with visual field defects. The operative findings in eight of these cases are reviewed. The need for a multidisciplinary approach and close follow-up of patients with an empty sella and functional deficits is emphasized. Surgical intervention including lysis of adhesions and chiasmapexy has been effective in selected cases in reversing or stabilizing visual field abnormalities.

Adolescent↗

Relationship between thyroid volume and serum thyroglobulin during long-term suppression with triiodothyronine in patients with diffuse non-toxic goitre.

Twenty-five patients with non-toxic diffuse goitre were studied during and after 12 months of treatment with 60 micrograms triiodothyronine daily in order to see whether a correlation could be found between the reductions of thyroid volume, using ultrasonic scanning, and serum thyroglobulin. Thyroid function tests and thyroid volume determination were performed before treatment and after 3, 6 and 12 months of therapy in 19 patients (group 1). In patients of group 2 (n = 19) the same tests were performed at the end of 12 months treatment and 6 and 12 months after withdrawal. Before treatment all patients had a significantly increased thyroid volume compared to controls matched according to sex, age and body weight (P less than 0.001). Serum thyroglobulin was elevated compared to controls (P less than 0.02), with a significantly positive correlation to the thyroid volume (Spearmann's Rho = 0.52, P less than 0.02). Both serum thyroglobulin and thyroid volume decreased during treatment in the majority of the patients, concomitantly in approximately half of them. After withdrawal of treatment (group 2) serum thyroglobulin showed a median increase of 54% after 6 months and remained unchanged thereafter, whereas the thyroid volume was unchanged after 6 months. These findings might support the concept that the regulation of thyroid growth and of protein synthesis and degradation might be determined by different factors.

Adolescent↗

Clinical and molecular analysis of three Mexican families with Pendred's syndrome.

BACKGROUND: The autosomal recessive Pendred's syndrome is defined by congenital sensorineural deafness, goiter, and impaired iodide organification. It is caused by mutations in the Pendred's syndrome (PDS) gene that encodes pendrin, a chloride/iodide transporter expressed in the thyroid, the inner ear, and the kidney. OBJECTIVE: To perform a detailed clinical and molecular analysis of patients with Pendred's syndrome from four patients from three unrelated Mexican families. METHODS: Thyroid function tests, perchlorate test, thyroid scintigraphy, audiometry, computer tomography and magnetic resonance imaging were performed in all affected individuals. Haplotype analyses were performed using microsatellite markers flanking the PDS locus, and the PDS gene was submitted to direct sequence analysis. RESULTS: All patients presented with sensorineural deafness, Mondini malformations of the cochlea, an enlarged vestibular aqueduct, goiter, and a positive perchlorate test. Two patients were hypothyroid, two individuals were euthyroid. Sequence analysis revealed a complex homozygous deletion/insertion mutation at the end of exon 4 in the index patient of family 1 resulting in a premature stop codon at position 138. In family 2, the affected individuals were compound heterozygous for a splice acceptor mutation (IVS2 -1G>A) and a 1231G>C transversion substituting alanine 411 by proline (A411P). In family 3, the index patient was found to be homozygous for a transversion 412G>T in exon 4 replacing valine 138 by phenylalanine (V138F). CONCLUSIONS: All patients included in this study presented with the classic Pendred syndrome triad and molecular analysis revealed pendrin mutations as the underlying cause. The identification of three novel mutations, one of them of complex structure, expands the spectrum of mutations in the PDS gene and emphasizes that they display marked allelic heterogeneity.

Adolescent↗

Thyroid dysfunction in patients with type 1 diabetes: a longitudinal study.

OBJECTIVE: Cross-sectional studies have reported that the risk of thyroid dysfunction in patients with type 1 diabetes is two- to threefold higher than in the general population. However, longitudinal studies to determine the natural history of thyroid dysfunction in patients with type 1 diabetes are lacking. RESEARCH DESIGN AND METHODS: We analyzed the incidence of thyroid dysfunction over time in a cohort of 58 patients (26 men and 32 women) enrolled in the Diabetes Control and Complications Trial at the University of Tennessee Health Science Center in 1983 and prospectively followed for 18 years. Patients underwent measurement of thyroid function tests (thyroid-stimulating hormone [TSH], thyroxine, and triiodothyronine) every year and thyroid peroxidase (TPO) antibodies at 4-year intervals. RESULTS: A total of 18 patients had hypothyroidism, and 1 patient experienced transient hyperthyroidism. Two subjects developed hypothyroidism 7 and 18 years before the development of diabetes and were excluded from the analysis. The mean age of diagnosis was 19 +/- 2 years for type 1 diabetes and 29 +/- 3 years for hypothyroidism. Hypothyroidism was more common in female (41%) than in male (19%) subjects and in patients with positive TPO antibodies. Patients who were TPO positive were 17.91 times as likely to develop hypothyroidism as patients who were TPO negative (95% CI 3.89-82.54). There were no differences in BMI, lipid profile, and HbA(1c) between patients with and without thyroid dysfunction. CONCLUSIONS: This longitudinal study confirms the association between autoimmune thyroid dysfunction and type 1 diabetes. Our results indicate that all subjects with type 1 diabetes should undergo annual screening by serum TSH measurement to detect asymptomatic thyroid dysfunction, particularly those with positive TPO antibodies.

Autoimmune Diseases↗

Managing thyroid dysfunction in the elderly. Answers to seven common questions.

Despite the high prevalence of thyroid dysfunction in the elderly, there is often considerable delay and difficulty in diagnosis because symptoms are subtle and attributed to normal aging. Atypical presentations also are common. Routine screening of asymptomatic, healthy adults is not recommended; however, physicians should maintain a high index of suspicion and have a low threshold for testing thyroid function. Subclinical abnormalities of thyroid function are even more prevalent than overt disease. Although observational studies have shown that subclinical disease affects function, adverse clinical outcomes have not been demonstrated. In addition, the benefits of treatment of subclinical disease are unclear. Therefore, treatment should be individualized and restricted to high-risk patients. The elderly are vulnerable to the side effects of thyroid replacement and antithyroid medications, which mandates cautious use of drugs and careful dose adjustments.

Adult↗

American Association of Clinical Endocrinologists and Associazione Medici Endocrinologi medical guidelines for clinical practice for the diagnosis and management of thyroid nodules.

Thyroid nodules are common and are frequently benign. Current data suggest that the prevalence of palpable thyroid nodules is 3% to 7% in North America; the prevalence is as high as 50% based on ultrasonography (US) or autopsy data. The introduction of sensitive thyrotropin (thyroid-stimulating hormone or TSH) assays, the widespread application of fine-needle aspiration (FNA) biopsy, and the availability of high-resolution US have substantially improved the management of thyroid nodules. This document was prepared as a collaborative effort between the American Association of Clinical Endocrinologists (AACE) and the Associazione Medici Endocrinologi (AME). Most Task Force members are members of AACE. We have used the AACE protocol for clinical practice guidelines, with rating of available evidence, linking the guidelines to the strength of recommendations. Key observations include the following. Although most patients with thyroid nodules are asymptomatic, occasionally patients complain of dysphagia, dysphonia, pressure, pain, or symptoms of hyperthyroidism or hypothyroidism. Absence of symptoms does not rule out a malignant lesion; thus, it is important to review risk factors for malignant disease. Thyroid US should not be performed as a screening test. All patients with a palpable thyroid nodule, however, should undergo US examination. US-guided FNA (US-FNA) is recommended for nodules > or = 10 mm; US-FNA is suggested for nodules < 10 mm only if clinical information or US features are suspicious. Thyroid FNA is reliable and safe, and smears should be interpreted by an experienced pathologist. Patients with benign thyroid nodules should undergo follow-up, and malignant or suspicious nodules should be treated surgically. A radioisotope scan of the thyroid is useful if the TSH level is low or suppressed. Measurement of serum TSH is the best initial laboratory test of thyroid function and should be followed by measurement of free thyroxine if the TSH value is low and of thyroid peroxidase antibody if the TSH value is high. Percutaneous ethanol injection is useful in the treatment of cystic thyroid lesions; large,symptomatic goiters may be treated surgically or with radioiodine. Routine measurement of serum calcitonin is not recommended. Suggestions for thyroid nodule management during pregnancy are presented. We believe that these guidelines will be useful to clinical endocrinologists, endocrine surgeons, pediatricians, and internists whose practices include management of patients with thyroid disorders. These guidelines are thorough and practical, and they offer reasoned and balanced recommendations based on the best available evidence.

Biopsy, Fine-Needle↗

Comparison of various treatment schedules for accelerating the elimination of radioiodine from the thyroid and the human body.

In 68 euthyroid patients undergoing 131I thyroid function tests the thyroidal, urinary and plasma protein-bound radioactivity has been serially measured for 14 days. The patients were subdivided in controls and 9 groups treated with potassium iodide, carbimazole, potassium perchlorate and TSH, singly or in combination. The aim was to devise a treatment scheme for accelerating the release of iodine from the thyroid and the elimination from the body in cases of accidental radioiodine poisoning if the patient is seen after the radioiodine has already been taken up by the gland. All treatment schedules were effective, but TSH injections gave the best results, especially if combined with carbimazole and potassium perchlorate. This combination is the treatment of choice under these circumstances.

Blood Proteins↗