TSH neurosecretory dysfunction (TSH-nd) in Down syndrome (DS): low risk of progression to Hashimoto's thyroiditis

Faria, Cláudia Dutra Costantin; Ribeiro, Simone; Kochi, Cristiane; Silva, Aryane Pereira Neves da; Ribeiro, Bruna Natalia Freire; Marçal, Lilian Teixeira; Santos, Felipe Henrique Yyazawa; Eduardo, Calliari Procópio Luis; Monte, Osmar; Longui, Carlos Alberto

doi:10.1590/s0004-27302011000800018

Cited by 10 publications

(4 citation statements)

References 19 publications

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“…A recent study demonstrated that the distribution plot for TSH had a significant shift of the curve to higher values in subjects with DS respect to healthy controls, suggesting that hyperthyrotropinemia is an innate attribute of chromosome 21 trisomy [36]. Moreover, some authors [5,37,38] have proposed that S-HT is probably related to inappropriate secretion of TSH or thyroid insensitivity to TSH, rather than to autoimmune thyroiditis.…”

Section: Discussionmentioning

confidence: 99%

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Ten-Year Longitudinal Study of Thyroid Function in Children with Down's Syndrome

et al. 2014

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Background/Aims: The natural history of thyroid function in children with Down's syndrome is relatively unknown. We hypothesized that in these patients the occurrence of thyroid dysfunction rises during development. Methods: Thyroid function was assessed yearly in 145 children with Down's syndrome, all followed from birth up to 10 years of age. Heteroskedastic binary and ordinary logistic regression for repeated measures was used to evaluate the relationship of thyroid function with continuous time. Results: Congenital hypothyroidism was detected in 7% of cases. The probability of acquired thyroid dysfunction increased from 30% at birth to 49% at 10 years (p < 0.001). The subclinical hypothyroidism was nearly stable during the follow-up. The probability of hypothyroidism increased from 7 to 24% at 10 years (p < 0.001). Positive anti-thyroglobulin antibodies were associated with higher odds of more severe hypothyroidism (odds ratio 3.6). Positive anti-thyroid peroxidase antibodies were a better predictor of more severe hypothyroidism (odds ratio 6.1). Diffuse hypoechogenicity on thyroid ultrasound was found in 34 out of 145 children. Conclusion: The probability of thyroid dysfunction increasing during development is higher than previously reported. Such children should be carefully monitored annually to early identify thyroid dysfunction.

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Section: Discussionmentioning

confidence: 99%

“…The prevalence of ATA in DS children was reported to range from 16% [38] to 39% [39]. Moreover, the increased TSH levels were demonstrated to be positively correlated with TPOab which were already indicated as a key factor in the follow-up of DS subjects [40].…”

Section: Discussionmentioning

confidence: 99%

Ten-Year Longitudinal Study of Thyroid Function in Children with Down's Syndrome

et al. 2014

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“…Notwithstanding, in another original printing ( 47 ), it was found that DS patients with elevated TSH concentration had low risk of progression to Hashimoto’s thyroiditis—10% for males and 6% for females. Similar conclusions that Hashimoto’s thyroiditis in DS children occurs without female predominance were drawn by Aversa et al ( 17 ).…”

Section: Discussionmentioning

confidence: 99%

Subclinical Hypothyroidism as the Most Common Thyroid Dysfunction Status in Children With Down’s Syndrome

et al. 2022

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IntroductionThyroid dysfunctions are one of the most common abnormalities coexisting in children with Down’s syndrome (DS) and have been reported in up to 54% of cases.Aim of the StudyThe purposes of this retrospective study were to investigate the course of subclinical hypothyroidism in children with DS, to evaluate the thyroid function of these subjects in relation to the risk of developing overt thyroid disease and autoimmunity, and to identify clinical and biochemical characteristics of patients prescribed L-T4 therapy in children and adolescents with DS and SH.Material and MethodsThe records of DS patients referred to the Endocrinology Outpatient Clinic between 2010 and 2015 for screening of thyroid function were observed till the end of 2019 June and analyzed retrospectively. The children diagnosed with congenital hypothyroidism, acute lymphoblastic leukemia, and seizures and treated with drugs that may have interfered with thyroid function like lithium, antiepileptic, or iodinated drugs and glucocorticoids were excluded from the study.ResultsThe data of 77 DS patients were collected, evaluated, and analyzed. The study group consisted of 73 patients (32 girls and 41 boys with the mean age at baseline of 3.0 ± 4.5 years). A total of 63/73 (87%) children were diagnosed with SH. The 16/63 (25.4%) patients were followed-up without the treatment (group SH-T0), and therapy with levothyroxine (L-T4) was introduced in 47/63 (74.6%) SH children with a mean dosage of 1.8 ± 1.0 μg/kg/day (group SH-T1). Thyroxine supplementation did not improve growth expressed as ΔhSDS (0.1 ± 1.3, ranged −2.1 to 3.8 in SH-T0 vs. 0.0 ± 0.7, ranged −1.7 to 1.4 in SH-T1, p = 0.96) and ΔBMI Z-score (0.3 ± 0.9, ranged −0.9 to 2.6 in SH-T0 vs. 0.3 ± 1.1, ranged −2.1 to 2.9 in SH-T1, p = 0.65). Positive anti-TPO and anti-TG antibodies were detected in 7/63 (11.1%) DS cases.ConclusionsSH is the most frequent presentation of thyroid gland dysfunction in DS children. A small percentage of patients develop an overt hypothyroidism, particularly in females with mostly positive titer of antithyroid autoantibodies.

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“…Thyroid dysfunctionespecially the SH pattern, which is commonly observed in very young DS infants-may also be of non-autoimmune etiology, suggesting a congenital thyroid alteration, which is directly related to the trisomy condition of chromosome 21. This phenomenon could be explained by a non-pathological shift in the normal range of TSH as a characteristic of DS, which results in a generally mild and transient form of SH at the group level [65,91,141].…”

Section: Down Syndromementioning

confidence: 99%

Hashimoto’s Thyroiditis and Graves’ Disease in Genetic Syndromes in Pediatric Age

Casto

Pepe

Pomi

et al. 2021

Genes

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Autoimmune thyroid diseases (AITDs), including Hashimoto’s thyroiditis (HT) and Graves’ disease (GD), are the most common cause of acquired thyroid disorder during childhood and adolescence. Our purpose was to assess the main features of AITDs when they occur in association with genetic syndromes. We conducted a systematic review of the literature, covering the last 20 years, through MEDLINE via PubMed and EMBASE databases, in order to identify studies focused on the relation between AITDs and genetic syndromes in children and adolescents. From the 1654 references initially identified, 90 articles were selected for our final evaluation. Turner syndrome, Down syndrome, Klinefelter syndrome, neurofibromatosis type 1, Noonan syndrome, 22q11.2 deletion syndrome, Prader–Willi syndrome, Williams syndrome and 18q deletion syndrome were evaluated. Our analysis confirmed that AITDs show peculiar phenotypic patterns when they occur in association with some genetic disorders, especially chromosomopathies. To improve clinical practice and healthcare in children and adolescents with genetic syndromes, an accurate screening and monitoring of thyroid function and autoimmunity should be performed. Furthermore, maintaining adequate thyroid hormone levels is important to avoid aggravating growth and cognitive deficits that are not infrequently present in the syndromes analyzed.

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TSH neurosecretory dysfunction (TSH-nd) in Down syndrome (DS): low risk of progression to Hashimoto's thyroiditis

Cited by 10 publications

References 19 publications

Ten-Year Longitudinal Study of Thyroid Function in Children with Down's Syndrome

Ten-Year Longitudinal Study of Thyroid Function in Children with Down's Syndrome

Subclinical Hypothyroidism as the Most Common Thyroid Dysfunction Status in Children With Down’s Syndrome

Hashimoto’s Thyroiditis and Graves’ Disease in Genetic Syndromes in Pediatric Age

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