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Background: Oculocutaneous albinism (OCA) is a heterogeneous autosomal recessive disorder characterized by reduced or absent melanin synthesis. Its prevalence is approximately one in 17,000 individuals worldwide. OCA causes a complete or partial absence of pigment in the skin, hair, and eyes. Reduction of melanin in the eyes results in reduced visual acuity, photophobia, and nystagmus. To our knowledge, the coexistence of albinism and thyroid autoimmune diseases has not been reported. Case Report: A 37-year-old male with OCA came to our observation for a familial history of autoimmune thyroiditis. He complained with mild asthenia. His brother was affected by OCA and autoimmune thyroiditis. Physical examination revealed the presence of fair skin, platinum white hair, and hypopigmentation of the iris. Laboratory data revealed the presence of subclinical hypothyroidism with positive serum anti-thyroid antibodies. Neck ultrasonography showed a markedly heterogeneously hypoechoic pattern of the thyroid, with a honeycomb-like appearance. Discussion: In the majority of cases, OCA in Caucasians is caused by mutations in the tyrosinase gene. The tyrosinase peptide is normally expressed on the surface of melanocytes, although recent studies have shown its presence in thyroid follicular epithelial cells of patients with Hashimoto’s thyroiditis. Therefore, although the mechanism is unclear, the present case report may suggest a pathogenetic link between OCA and Hashimoto’s thyroiditis.
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This review focuses on two different topics: (a) iodine and autoimmune thyroid disease (AITD) and (b) AITD and papillary thyroid carcinoma (PTC). Iodine intake modifies the expression of thyroid diseases and has been associated with induction of AITD. Thyroglobulin (Tg) is an important target in iodine-induced autoimmune response due to post-translational modifications of iodinated Tg, as suggested in animal models. We have shown that the unmasking of a cryptic epitope on Tg contributes to iodine-induced thyroid autoimmunity in humans. The relationship between AITD and PTC has been suggested in many studies. The presence of two different mechanisms has been hypothesized, one typical of AITD and the other of an immune reaction to PTC. We have shown that in AITD, the pattern of Tg recognition by anti-Tg antibodies (TgAb) is ‘restricted' to the immunodominant regions of Tg, while in patients with non-AITD, such as nodular goiter and PTC devoid of thyroid lymphocytic infiltration at histology, TgAb show a less restricted epitopic pattern and bind also to other regions of Tg. Thyroid function may also affect the frequency of PTC, the risk of cancer increasing with serum TSH levels. We have shown that this mechanism, rather than thyroiditis per se, plays a major role in the association of PTC with Hashimoto's thyroiditis, as a consequence of the autoimmune process leading to a progressive increase of serum TSH in these patients.
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Background: Graves’ orbitopathy (GO) is believed to be the consequence of autoimmunity against antigens that are present both in the thyroid and orbital tissues. Massive release of thyroid antigens causes the appearance or deterioration of GO in patients with Graves’ hyperthyroidism (GH), as it occurs following radioiodine treatment. In theory, a similar release of autoantigens may occur at the eye level, for example due to an orbital trauma or surgical manipulation. To our knowledge, this is the first report of a case of de novo appearance of GO and then GH after an eye trauma, possibly reflecting spreading of autoantigens and activation of the immune system against shared orbital and thyroid antigens. Case Report: An otherwise healthy, 57-year-old man presented 6 months after the appearance of a monolateral right orbitopathy, which occurred 40 days after a trauma in the ipsilateral eye. His thyroid function was normal, with positive serum anti-TSH receptor autoantibodies. The thyroid was normal on ultrasound. A month later he developed hyperthyroidism and orbitopathy in the left eye. Discussion: The development of GO after an eye trauma may reflect tissue damage with release of autoantigens and consequent autoimmunity in a predisposed individual (our patient had a familial history of autoimmune thyroid disease). The subsequent development of hyperthyroidism is in keeping with the hypothesis that GH and GO are due to autoimmunity against antigens present both in the thyroid and in orbital tissues.
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Background: Recently, there has been a trend to reduce the use of radioiodine remnant ablation (RRA) in patients with low-risk (LR) and intermediate-risk (IR) differentiated thyroid cancer (DTC). Objectives: The aim of this paper was to evaluate the diagnostic role of whole-body scan (ptWBS) performed after RRA in LR and IR DTC patients. Methods: We analyzed 545 DTC patients treated with total thyroidectomy and RRA in hypothyroidism followed by a ptWBS. Neck ultrasound (US) and serum thyroglobulin measurement were performed. According to the American Thyroid Association guidelines, patients were classified as LR (n = 345) and IR (n = 200). Results: In addition to the thyroid remnant, the ptWBS showed the presence of further areas of <sup>131</sup>I uptake in 16/545 (2.9%) cases. ptWBS showed laterocervical lymph node metastases in 11/16 patients (10/11 were also detected by US), mediastinal uptake in 1/16, lung metastases in 3/16, and bone metastases in 1/16. Only 6/545 (1.1%) metastases were detected by ptWBS alone. After 7.8 years, 8/16 patients were free of disease, and 8 had persistent disease: 4 “biochemical” and 4 “structural.” Remission was achieved in 3 cases after one single <sup>131</sup>I course, in 1 case after surgery, and in the last 4 cases after several <sup>131</sup>I courses. Conclusions: The ptWBS diagnostic role was clinically relevant for the therapeutic strategies of our patients only in 1.1% of the cases. The cost-effectiveness of performing RRA and ptWBS in all LR and IR patients to find 1–2% of the cases with distant metastases remains controversial.
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Introduction: In the last few years, immune checkpoint inhibitors (ICPis) have become a common treatment of cancer. ICPis are associated with peculiar immune side effects, termed immune-related adverse events (irAEs). Thyroid disfunction is a common irAE, but clinical manifestation, severity, and pathogenesis can be variable. While destructive thyroiditis and hypothyroidism are the most common thyroid irAEs induced by ICPis, autoimmune hyperthyroidism (Graves’ disease) is rare. We describe a case of a Graves’ disease induced by anti-PD-1 therapy and we review the previous reports on this issue. Case Presentation: A 51-year-old man developed an overt autoimmune hyperthyroidism 2 months after he had started nivolumab (anti-PD-1) therapy for a metastatic non-small cell lung cancer. Although TSH-receptor autoantibodies (TRAb) were negative, the persistence of hyperthyroidism, the hypervascular pattern at thyroid ultrasound, and the high uptake at thyroid scintigraphy were all features suggestive of Graves’ disease. Methimazole was started with the prompt restoration of euthyroidism. TRAb remained undetectable during the entire follow-up. Conclusions: Autoimmune hyperthyroidism can be induced by anti-PD-1 treatment. TRAb were negative in both cases of nivolumab-induced Graves’ disease described to date. A correct differential diagnosis between destructive thyroiditis and autoimmune hyperthyroidism is crucial for the appropriate treatment.
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Background: The pathogenesis of the extrathyroidal manifestations of Graves’ disease (GD) is not fully clarified. According to the most common hypothesis, they would reflect an autoimmune reaction against antigens constitutively expressed by the thyroid and by the extrathyroidal affected tissues. According to another hypothesis, the so-called Kriss’ hypothesis, soluble autoantigens released from the thyroid would reach the affected tissues, where they would become the target of the immune system. In this regard, a shift in gravity during sleep may favour antigen deposition. Case Report: A 59-year old man with GD came to our observation because of a dermopathy. He had been treated with radioactive iodine for Graves’ hyperthyroidism and with glucocorticoids and orbital decompression for a bilateral Graves’ orbitopathy (GO). The patient complained of a monolateral, untreated dermopathy, affecting the left leg and hand. At physical examination the skin of the left pretibial area and of the dorsal surface of the left hand appeared red and thickened, with an orange peel aspect. Interestingly, the patient reported that he usually slept laying on the left side of his body. Discussion: The observation of a patient with a monolateral dermopathy somehow reports to the Kriss’ hypothesis, especially in view of the patient’s habit of sleeping on the same side as dermopathy was present. Of course, this does not represent a proof that the Kriss’ hypothesis is correct, but it carries an element in favour of it. The fact that GO was bilateral is somehow against it, but does not exclude this possibility.
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Objectives: There is a general belief that Graves’ orbitopathy (GO) is a “chronic” disease, namely that patients’ eyes do not return to how they were before GO appeared. Here, we investigate this issue from both the patient’s and the physician’s point of view. Study Design: We studied the disappearance of GO, regardless of treatment, in all consecutive patients with a GO history of at least 10 years who came for a follow-up visit over a period of 5 years. Patients underwent an ophthalmological examination and were asked to answer a questionnaire on self-perception related to GO. Results: We studied 99 consecutive patients with a GO duration ≥10 years. Between the first and the last observation, patients received several types of treatment for their thyroid disease and/or for GO. At the end of follow-up, GO was considered disappeared based on objective criteria in 8 patients (∼8%) and based on subjective criteria in 24 patients (∼24%). When we considered both subjective and objective criteria, only 2 patients (∼2%) had all criteria fulfilled and could be considered as GO-free. Conclusions: GO is a chronic disease in the vast majority of patients. Even after a very long time since its onset, complete disappearance is rare, although a minority of patients believe they do not have GO anymore and an even lower proportion do not have relevant GO signs. Our findings have obvious implications in patient management and counseling.
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Introduction
Medullary thyroid cancer (MTC) is a rare endocrine tumor, which can be sporadic or familial, as a component of multiple endocrine neoplasia 2 (MEN2). Overall, 10% of MTC cases have already developed at presentation or will develop metastasis during follow-up. Testicular metastases are exceptional and only one case of unilateral testis involvement by metastatic MTC has been already reported in literature. We described the first known case of asymptomatic bilateral testicular MTC metastases, discovered incidentally at testicular ultrasound (US) performed for unrelated reasons.
Case presentation
A Latin American 32-year-old man with MEN 2A syndrome and metastatic MTC underwent andrological and urological examination due to premature ejaculation. US imaging showed two symmetrical hypoechoic lesions involving both testes. Suspecting a bilateral testicular cancer, the patient underwent excision biopsy of both testicular lesions. Histopathology and immunohistochemical examinations documented metastatic MTC of both testicular lesions.
Conclusion
Beyond its rarity, testis should be considered as a potential metastatic site of MTC, especially in patients with advanced disease.
Established facts
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Distant metastases are present at the diagnosis in 10–15% of patients with medullary thyroid carcinoma (MTC).
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Testicular metastases are anecdotal. Only one case of unilateral testis involvement by metastatic MTC has been reported in the literature.
Novel insights
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Testis should be considered as a possible site of metastases in patients with diffuse metastatic MTC.
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Testicular ultrasound could be considered as an useful tool for the evaluation and follow-up of metastatic MTC.
