Congenital hypothyroidism and thyroid cancer

Penna, Gustavo; Rubio, Ileana G.S.; Brust, Ester Saraiva; Cazarin, Juliana; Hecht, Fábio; Alkmim, Nina Ramalho; Rajão, Kamilla Maria Araújo Brandão; Ramos, Helton Estrela

doi:10.1530/erc-21-0159

Cited by 9 publications

(6 citation statements)

References 89 publications

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“…Congenital hypothyroidism (CH), also known as sporadic cretinism, is caused by the decrease of thyroid hormone levels in the blood circulation of children due to various reasons, and the deficiency of thyroid hormone occurs in the fetal period until after birth; nonspecific symptoms such as feeding difficulties, hypothermia, abdominal distension, constipation, delayed resolution of yellow gangrene, and hair loss and thinning may occur [ 1 , 2 ]. Untreated children may have a low nasal bridge, wide eye spacing, thick lips, and a large and thick tongue that often sticks out of the mouth, and in severe cases, damage to heart, liver, and kidney functions may occur, which will eventually affect the physical and intellectual development of the child and also cause a certain burden to the family and society [ 3 , 4 ].…”

Section: Prefacementioning

confidence: 99%

Serological Characteristics, Etiological Analysis, and Treatment Prognosis of Children with Congenital Hypothyroidism

shen¹,

Ding

2022

Emergency Medicine International

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Objective. The aim of the study is to analyze the serological features, etiology, and prognosis of congenital hypothyroidism (CH) treated with L-thyroxine sodium (L-T4). Methods. A total of 126 CH children in our hospital from June 2015 to January 2020 were selected as the research objects, and L-T4 treatment was given immediately after diagnosis. After diagnosis and 24 months of treatment, laboratory serum thyroid function-related indicators were examined, and thyroid changes were determined by ultrasound. We compared serum thyroxine levels in children with different thyroid changes, compared serum thyroid hormone levels, serum ghrelin levels, and body mass index (BMI) changes in children with CH before treatment and after 24 months of treatment, and analyzed the prognosis of treatment in children. In terms of thyroid changes in 126 CH children, 32 cases (25.40%) had a normal thyroid gland, 16 cases (12.70%) had a hypoplastic thyroid gland, 40 cases (31.75%) had an ectopic thyroid gland, 28 cases (22.22%) had an absent thyroid gland, and 10 cases (7.93%) had an enlarged thyroid gland, with an ectopic thyroid gland being the most common. In terms of serological expression of CH children, the TSH level in children with thyroid dysplasia was significantly higher than that in children with basic normal and T3 and T4 levels were significantly lower than those in children with basic normal ( P < 0.05 ). At the same time, the TSH level in children with thyroid absence, ectopic, and enlargement was increased, while thyroxine (T4) and tri-iodothyronine (T3) levels were decreased compared with those in children with thyroid dysplasia. The difference was statistically significant ( P < 0.05 ). Univariate analysis showed that there were statistically significant differences in birth weight, week of gestation at delivery, maternal age at childbirth, household registration, and a family history of thyroid disease compared between the two groups ( P < 0.05 ); multivariate logistic regression analysis showed that birth weight <2,500 g, maternal age >35 years, rural residence, and a family history of thyroid disease were risk factors for neonatal CH ( P < 0.05 ). Serum thyroid-stimulating hormone (TSH) levels, serum ghrelin levels, and the body mass index of children with CH decreased significantly, and T4 levels increased significantly after 24 months of treatment ( P < 0.05 ). Conclusion. Screening for common causes of CH is conducive to timely detection of children with CH, and L-T4 treatment can effectively improve thyroid function in children.

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Section: Prefacementioning

confidence: 99%

Serological Characteristics, Etiological Analysis, and Treatment Prognosis of Children with Congenital Hypothyroidism

shen¹,

Ding

2022

Emergency Medicine International

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“…The combination of CH and DTC is a rare condition with no established causal relationship. As recently suggested by Penna et al., the long exposure to elevated serum TSH levels, a congenital goiter as well as the presence of stimulating factors or the absence of tumor suppressor genes, the type of mutation and the iodine intake could all be factors involved in the development of DTC in patients with CH due to dyshormonogenesis ( 15 , 16 ). Previous studies have described cases of follicular and papillary thyroid carcinoma in CH patients with TPO mutation and a perfectly controlled thyroid function ( 17 , 18 ) suggesting that genetic and environmental factors other than TSH level might be involved in the development of thyroid cancer in dyshormonogenic multinodular goiter (MNG) and perhaps play a synergic role in the development of DTC.…”

Section: Discussionmentioning

confidence: 90%

Case Report - Multinodular goiter in a patient with Congenital Hypothyroidism and Bannayan-Riley-Ruvalcaba syndrome: the possible synergic role of TPO and PTEN mutation

Vincenzi,

Petralia,

Abbate

et al. 2023

Front. Endocrinol.

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We report the case of a paediatric female patient affected by Bannayan-Riley-Ruvalcaba syndrome (BRRS) and congenital hypothyroidism (CH) with homozygous mutation of the TPO gene. She underwent total thyroidectomy at the age of seven years because of the development of a multinodular goiter. BRRS patients present an increased risk of benign and malignant thyroid disease since childhood because of inactivating mutation of PTEN, an onco-suppressor gene. Instead, homozygous mutations in the TPO gene can be associated with severe forms of hypothyroidism with goiter; previous studies have described cases of follicular and papillary thyroid cancer in CH patients with TPO mutation despite a perfectly controlled thyroid function with Levothyroxine therapy. To our knowledge, this is the first case that describes the possible synergic role of coexisting mutation of both TPO and PTEN in the development of multinodular goiter underlining the importance of a tailored surveillance program in these patients, especially during childhood.

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“…However, these results are inconsistent [41]: Breast cancer and radiation therapy to the supraclavicular lymph nodes are linked to hypothyroidism risk [42]. Elevated TSH, increased reactive oxygen species production, and mutation/polymorphisms of genes have been involved in increased cancer risk or pro-tumoral cell behavior [43]. Therefore, there is a need for more clinical studies in subclinical or clinical hypothyroidism to explore the relationship between lifestyle modification and hypothyroidism prevention.…”

Section: Discussionmentioning

confidence: 99%

Interactions between Polygenetic Variants and Lifestyle Factors in Hypothyroidism: A Hospital-Based Cohort Study

Kim,

Park

2023

Nutrients

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Hypothyroidism is a prevalent endocrine disorder and is associated with a variety of metabolic disturbances. This study aimed to investigate the polygenic variants associated with hypothyroidism risk and the interaction of polygenic risk scores (PRS) with dietary patterns in influencing disease risk in 56,664 participants aged >40 in a hospital-based cohort. The participants were classified as having hypothyroidism (n = 870) diagnosed by a physician and no hypothyroidism (n = 55,794). Genetic variants associated with hypothyroidism were identified using a genome-wide association study (GWAS). Genetic variants interacting with each other were selected using a generalized multifactor dimensionality reduction analysis, and the PRS generated was evaluated for interaction with lifestyle parameters. Coffee, alcohol, meat intake, and a Korean balanced diet were inversely associated with hypothyroidism risk, as were selenium, copper, and manganese intakes. White blood cell (WBC) counts and serum alkaline phosphatase and triglyceride concentrations were positively associated with hypothyroidism risk, as were osteoporosis and thyroid cancer. The GMDR analysis generated a three-single nucleotide polymorphism (SNP) model comprising dual oxidase-1 (DUOX1)_rs1648314; thyroid-stimulating hormone receptor (TSHR)_rs75664963; and major histocompatibility complex, class-II, DQ Alpha-1 (HLA-DQA1)_rs17426593. The PRS derived from the three- and seven-SNP models were associated with a 2.11- and 2.32-fold increase in hypothyroidism risk, respectively. Furthermore, the PRS from the three-SNP model showed interactions with WBC counts, wherein the positive association with hypothyroidism risk was more pronounced in participants with low WBC counts than those with high WBC counts (≥4 × 109 /L). Dietary patterns, such as the plant-based diet (PBD) and the Western-style diet (WSD), along with smoking status, exhibited interactions with the PRS, influencing hypothyroidism risk. In participants with a high PRS, those in the high-PBD, low-WSD, and smoker groups had a higher proportion of hypothyroidism than those in the low-PBD, high-WSD, and non-smoker groups. In conclusion, genetic variants related to immunity and thyroid hormone secretion were linked to hypothyroidism risk, and their PRS interacted with PBD and WSD intake and smoking status. These results contribute to a better understanding of hypothyroidism and its prevention strategies for precision medicine intervention.

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Congenital hypothyroidism and thyroid cancer

Cited by 9 publications

References 89 publications

Serological Characteristics, Etiological Analysis, and Treatment Prognosis of Children with Congenital Hypothyroidism

Serological Characteristics, Etiological Analysis, and Treatment Prognosis of Children with Congenital Hypothyroidism

Case Report - Multinodular goiter in a patient with Congenital Hypothyroidism and Bannayan-Riley-Ruvalcaba syndrome: the possible synergic role of TPO and PTEN mutation

Interactions between Polygenetic Variants and Lifestyle Factors in Hypothyroidism: A Hospital-Based Cohort Study

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