Endocrinological Evaluations of a Neurofibromatosis Type 1 Cohort: Is it Necessary to Evaluate Autoimmune Thyroiditis in Neurofibromatosis Type 1?

Güler, Serhat; Yeşil, Gözde; Önal, Hasan

doi:10.4274/balkanmedj.2015.1717

Cited by 9 publications

(13 citation statements)

References 23 publications

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“…Most of the previous authors proposed this as the most plausible mechanism behind the development of autoimmune thyroid disease in children with NF1, as these CD4+ T cells play an important role in the development of autoimmunity. Our case has a unique presentation in the sense that he developed hypothyroidism in the absence of any evidence of autoimmunity and had the youngest age of presentation at five years, compared to all published cases [3]. Moreover, at least 13-23% of children with NF1 have short stature and the growth velocity significantly improved with thyroid hormone replacement in our case, thereby indicating a need for screening for hypothyroidism in NF1 children with short stature.…”

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confidence: 56%

“…The co-existence of hypothyroidism in children with neurofibromatosis type-1 (NF1) has only been described in a few anecdotal case reports in existing literature [1,2]. Only one study to date has systematically evaluated thyroid abnormalities in children with NF1 and did not find an increased incidence as compared to the normal population [3]. Few case reports of concomitant occurrence of various autoimmune thyroid diseases like Hashimoto's thyroiditis and Graves' disease, as well as thyroid neuroendocrine tumors and other thyroid neoplasms like C-cell hyperplasia, medullary and papillary thyroid carcinoma, have been reported in adults with NF1 [4,5].…”

mentioning

confidence: 99%

“…Neurofibromin is a GTPase-activating protein that downregulates p21-ras proto-oncogene. The loss of function of neurofibromin in NF1 patients leads to uncontrolled cell growth and increased tumor formation [3]. Reduced neurofibromin production leads to decreased Fas ligand expression, which subsequently prevents apoptosis of CD4+ T cells.…”

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confidence: 99%

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Neurofibromatosis Type-1 and Hypothyroidism

Panda

Sharawat

2020

Indian J Pediatr

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confidence: 56%

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confidence: 99%

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Neurofibromatosis Type-1 and Hypothyroidism

Panda

Sharawat

2020

Indian J Pediatr

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“…The neurofibromatosis type I (NF-1) gene encodes neurofibromin -a GTPase-activating protein that downregulates the cellular p21-ras proto-oncogene [23]. It is expressed in neurons, the adrenal medulla, in endothelial and glial cells [24].…”

Section: Resultsmentioning

confidence: 99%

Apoptosis and Cell Cycle Pathway-Focused Genes Expression Analysis in Patients with Different Forms of Thyroid Pathology

Bilous¹,

Pavlovych²,

Krynytska³

et al. 2020

Open Access Maced J Med Sci

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BACKGROUND: Thyroid hormones are key regulators of essential cellular processes including proliferation, differentiation, and finally apoptosis. AIM: The aim of study was to detect changes in the expression of apoptosis and cell cycle pathway-focused genes in patients with different forms of thyroid pathology. PATIENTS AND METHODS: 36 patients with thyroid pathology were enrolled in the study. We used the pathway-specific real-time PCR array (Neurotrophins and Receptors RT2 Profiler PCR Array, QIAGEN, Germany) to identify and verify apoptosis and cell cycle pathway-focused genes expression in patients with postoperative hypothyroidism, hypothyroidism as a result of autoimmune thyroiditis (AIT) and AIT with elevated serum an anti-thyroglobulin (anti-Tg) and anti-thyroid peroxidase (anti-TPO) antibodies. RESULTS: It was shown that patients with elevated serum anti-Tg and anti-TPO antibodies and with hypothyroidism resulting from AIT had a significantly lower expression of FAS, TGFB, TP53, TGFA, while the expression of CD40 was increased. The mRNA levels of BCL2 and BAX decreased in the patients with elevated serum anti-Tg and anti-TPO antibodies and increased in the patients with hypothyroidism resulting from AIT and postoperative hypothyroidism. The patients with hypothyroidism resulting from AIT and postoperative hypothyroidism had significantly lower expression of HSPB1. NF1 expression did not change in all groups of patients. CONCLUSION: The results of this study demonstrate that AIT and hypothyroidism affect the mRNA-level expression of apoptosis and cell cycle pathway-focused genes in gene specific manner and that these changes to gene expression can be responsible for the apoptosis signs and symptoms associated with thyroid pathology.

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“…Various lesions in the thyroid gland such as papillary carcinoma, follicular carcinoma and neurofibromas of the thyroid gland, in association to NF1 have been also described [13]. In the studied group, in one woman the surgery has been performed due to retrosternal toxic nodular goiter which caused the impression of the trachea.…”

Section: Discussionmentioning

confidence: 99%

Clinical manifestations of neurofibromatosis type 1 – a diagnostic and management challenge

Dabrowska

Zwolak

2018

Polish Journal of Public Health

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Introduction. Neurofibromatosis type 1 (NF1), caused by mutation of the tumour-suppressor gene encoding neurofibromin, is an autosomal dominant disorder affecting various organs. Aim. The aim of the study was to discuss the clinical symptoms of NF1 based on seven cases of the disease with regard to the literature. Material and methods. We analyzed retrospectively patients with NF1 (4 females and 3 males) aged 19-52 who were treated at Endocrinology Department between 2003 and 2017. The diagnosis was made in childhood (4 patients) or in adolescence (3 cases), based on clinical symptoms and genetic tests. Results. Five patients had a positive family history of NF1, two cases represented spontaneous mutation. All of analyzed subjects presented café-au-lait spots and neurofibromas on the body. We observed neurological disorders such as: epilepsy (2 patients), Arnold-Chiari malformation (1 man), benign brain neoplasms (2 persons). Optic gliomas appeared in two cases. Tumours were also found in other organs, including the uterus (2 women), the lung, the adrenals, the pituitary and the parathyroid gland (with signs of primary hyperparathyroidism) – each tumour in another patient. Four subjects suffered from cognitive impairment. Skeletal manifestations of neurofibromatosis type 1 such as scoliosis (1 man) and short stature (6 patients) have been noted as well. Five patients presented thyroid disorders – hypothyroidism due to Hashimoto’s disease (4 patients), toxic nodular goiter (1 woman). Other clinical symptoms e.g. vitiligo, alopecia areata and coarctation of aorta have also been found. Conclusions. Variety of clinical symptoms causes that NF1 still remains a diagnostic and management challenge for many physicians. Therefore, multidisciplinary approach is needed to optimize patients’ treatment.

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Endocrinological Evaluations of a Neurofibromatosis Type 1 Cohort: Is it Necessary to Evaluate Autoimmune Thyroiditis in Neurofibromatosis Type 1?

Cited by 9 publications

References 23 publications

Neurofibromatosis Type-1 and Hypothyroidism

Neurofibromatosis Type-1 and Hypothyroidism

Apoptosis and Cell Cycle Pathway-Focused Genes Expression Analysis in Patients with Different Forms of Thyroid Pathology

Clinical manifestations of neurofibromatosis type 1 – a diagnostic and management challenge

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