Clear Cells Detection in Nodular Thyroid Disease Is Not Always Indicative of Neoplasia: Description of the First Case of Thyroid Involvement in Multisystem Triglyceride Storage Disease

Benelli, Elena; Fiore, Emilio; Giustarini, E.; Romani, Roberta; Pennisi, E.; Pinchera, Aldo; Giani, Carlotta

doi:10.1089/thy.2007.0228

Cited by 3 publications

(2 citation statements)

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“…Dysfunction of these two proteins affects the degradation of triglycerides, and then causes their accumulation in cells with two different phenotypes [56]. Thyroid nodular dystrophy related to intracellular accumulation of triglycerides has been reported in lipid storage disease with the "ichtyosis" phenotype [57] (see Table 3). …”

Section: Dysthyroidismmentioning

confidence: 99%

Endocrine manifestations related to inherited metabolic diseases in adults

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Dobbelaere

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et al. 2012

Orphanet Journal of Rare Diseases

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Most inborn errors of metabolism (IEM) are recessive, genetically transmitted diseases and are classified into 3 main groups according to their mechanisms: cellular intoxication, energy deficiency, and defects of complex molecules. They can be associated with endocrine manifestations, which may be complications from a previously diagnosed IEM of childhood onset. More rarely, endocrinopathies can signal an IEM in adulthood, which should be suspected when an endocrine disorder is associated with multisystemic involvement (neurological, muscular, hepatic features, etc.). IEM can affect all glands, but diabetes mellitus, thyroid dysfunction and hypogonadism are the most frequent disorders. A single IEM can present with multiple endocrine dysfunctions, especially those involving energy deficiency (respiratory chain defects), and metal (hemochromatosis) and storage disorders (cystinosis). Non-autoimmune diabetes mellitus, thyroid dysfunction and/or goiter and sometimes hypoparathyroidism should steer the diagnosis towards a respiratory chain defect. Hypogonadotropic hypogonadism is frequent in haemochromatosis (often associated with diabetes), whereas primary hypogonadism is reported in Alström disease and cystinosis (both associated with diabetes, the latter also with thyroid dysfunction) and galactosemia. Hypogonadism is also frequent in X-linked adrenoleukodystrophy (with adrenal failure), congenital disorders of glycosylation, and Fabry and glycogen storage diseases (along with thyroid dysfunction in the first 3 and diabetes in the last). This is a new and growing field and is not yet very well recognized in adulthood despite its consequences on growth, bone metabolism and fertility. For this reason, physicians managing adult patients should be aware of these diagnoses.

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Section: Dysthyroidismmentioning

confidence: 99%

Endocrine manifestations related to inherited metabolic diseases in adults

Vantyghem

Dobbelaere

Mention

et al. 2012

Orphanet Journal of Rare Diseases

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“…This rare non-lysosomal lipid storage disorder, caused by defects in two triglyceride-associated proteins, results in impaired degradation of triglycerides and causes their accumulation in cells with two different phenotypes ( 54 ). Apart from myopathy, cardiomyopathy, ichthyosis, hepatomegaly or central nervous system involvement, thyroid nodular dystrophy related to intracellular accumulation of triglycerides have been reported ( 55 ). Abnormal lipid metabolism may lead to other endocrine abnormalities such as low leptin and adiponectin levels, a moderate increase in insulin levels at fasting state and even greater increase after oral glucose tolerance test ( 56 ).…”

Section: Thyroidmentioning

confidence: 99%