Age-Related Patterns of Thyroid-Stimulating Hormone Response to Thyrotropin-Releasing Hormone Stimulation in Down Syndrome

Sharav, Teresa; Landau, H; Zadik, Zvi; Einarson, Thomas R.

doi:10.1001/archpedi.1991.02160020064018

Cited by 27 publications

(27 citation statements)

References 17 publications

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“…Criscuolo et al (1986) and Sharav et al, (1991) have suggested that in persons with Down syndrome subclinical primary hypothyroidism could be diagnosed by testing the hypothalamic-pituitary-thyroid pathway by detection of an exaggerated and prolonged TSH response to TRH (thyrotrophin releasing hormone).…”

Section: Clinical Features Of Thyroid Disorders In Down Syndromementioning

confidence: 99%

Down Syndrome and Thyroid Disorders: A Review

Prasher¹

1999

Downs Syndr. Res. Pract.

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Thyroid disorders are common in the Down syndrome population but many specific areas of importance remain to be resolved. A detailed review of previously published case reports and research studies highlighting the clinical association between Down syndrome and thyroid disorders was undertaken. Historical, epidemiological, immunological, diagnostic and treatment issues are addressed. Recommendations for future management and research are considered.

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Section: Clinical Features Of Thyroid Disorders In Down Syndromementioning

confidence: 99%

Down Syndrome and Thyroid Disorders: A Review

Prasher¹

1999

Downs Syndr. Res. Pract.

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“…An increased response of TSH to TRH is observed in DS patients. 14,15 In the cross-sectional study by Sharav et al, 15 this increased response of TSH to TRH showed a gradual decrease, returning to normal at the age Zori et al 5 did not find any correlation between HLA (human leukocyte antigen) system and the presence of thyroid autoantibodies. The pathogenetic mechanism of subclinical hypothyroidism without anti-TPO still remains unclear in DS patients.…”

Section: Discussionmentioning

confidence: 95%

“…8,[11][12][13] Studies have demonstrated an increased response of TSH to thyrotropin-releasing hormone (TRH) in DS patients, 14 and this response pattern persists up to the age of three years. 15 The transient elevation of TSH levels has been documented in children with DS. 7,10 Controversy exists over whether such elevation is a risk factor for impaired intellectual outcome in these children 11 and the cause for such elevation has not been clarified yet.…”

Section: Introductionmentioning

confidence: 99%

Avaliação etiológica da hipertirotropinemia em crianças com síndrome de Down

Dias¹,

Nunes²,

Araújo³

et al. 2005

J. Pediatr. (Rio J.)

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Objective: To study the prevalence of increased TSH level and its probable cause in children with Down s syndrome treated at Policlínica Antônio Cândido. Methods:The data were colleted using medical records of 169 patients. Of these, 46 patients, whose TSH increased at some time during their follow-up, were re-evaluated. In these patients, TSH, free T4, total T4 and thyroid peroxidase autoantibody (anti-TPO) levels were measured. Thyroid ultrasound, iodine-131 scintigraphy, and a perchlorate discharge test were performed.Results: In 169 children, 86 (50.8%) of whom were male, aged between 1-16 years (median 4 years), 67 (39.6%) presented increased TSH levels. Out of these 67 patients, 46 were prospectively studied. In 31 (67.4%) of them serum TSH returned to normal levels; in 11, TSH remained between 5 and 10 µU/ml, three (6.5%) had a TSH level over 10 µU/ml and one (2.2%) had hyperthyroidism. The diagnoses in 34 patients who were fully studied were: goiter in five (14.7%); Hashimoto s thyroiditis in four (5.9%); hypoplasia in three (8.8%) and iodide organification defect in one (2.9%). The increased TSH levels had a statistically positive relationship with anti-TPO (p = 0.02), but not with gender, abnormal ultrasound or scintigraphy findings. TSH levels did not have any relationship with persistent hyperthyrotropinemia. Conclusions:In patients with Down s syndrome, slightly elevated and transient TSH levels are frequently detected. Positive anti-TPO antibody test is a key factor in the follow-up of these patients because of its potential risk of progression to manifest thyroid disease.J Pediatr (Rio J). 2005;81(1):79-84: Down s syndrome, hyperthyrotropinemia, autoimmune thyroid disease, thyrotropin, hyperthyroidism.

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“…She was not on thyroxine replacement. Her thyroid function tests (TFT) and antibody status normalised following delivery [1][2][3][4][5][6].…”

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confidence: 99%

Neonatal Pituitary-Thyroid Axis Dysregulation with Combined Thyroid Hormone and Thyrotropin Resistance in Infant with Trisomy 21 and Maternal Subclinical Hypothyroidism

Ng¹,

Soni²,

Didi³

2017

J Neonatal Biol

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Case ReportA term infant born to a primigravida mother was confirmed to have Trisomy 21. The mother had subclinical hypothydoidism with plasma TSH of 7 mU/L, FT4 of 11 pmol/L and positive TPO antibodies during the third trimester. She was not on thyroxine replacement. Her thyroid function tests (TFT) and antibody status normalised following delivery [1-6].The infant was identified to have raised TSH indicating CH on the neonatal screening program. His TFTs confirmed raised TSH at 30.9 mU/l and T4 of 23.8 pmol/l. The TPO antibodies were absent. Ultrasound scan showed normal appearance of the thyroid gland in the neck (Figure 1). 99mTc-Pertechnetate scan showed uptake within a bilobed structure in the lower neck (Figure 2). Scan time was 5 min and 17 seconds, at the upper limit of normal. No treatment was started as he was clinically well.On day 16 of life, his plasma TSH remained elevated. He had prolonged jaundice and a widely open posterior fontanelle. Levothyroxine replacement was started at 37.5 µg daily as the neonatal screening program in the UK recommends treatment of all infants with congenital hypothyrodism by Day 21. Treatment had to be reduced progressively (Table 1) due to mild features of overtreatment despite raised plasma TSH, similar to what has been well described in RTH. The elevated plasma thyroid hormones (FT4, FT3) failed to normalise plasma TSH. No mutations of TSH receptor were found and urinary iodine levels were reported to be normal.He has remained stable on 12.5 µg of levothyroxine with normal plasma FT4 levels till 2 years of age. His development has been appropriate for children with Trisomy 21 with concerns from his parents. DiscussionPrevalence of thyroid dysfunction is higher in newborns with Trisomy 21 than in general population. Infants can have congenital hypothyroidism as well as subclinical compensated hypothyroidism characterised by elevated TSH levels, but normal plasma thyroxine (FT4) and triiodothyronine (FT3) levels [7,8]. In our case, raised TSH with high plasma FT4 initially could be due to transient thyroid hormone resistance (RTH). In the absence of any known mutations, this phenomenon has been previously described in the literature as case AbstractTrisomy 21 is commonly associated with thyroid problems. Although autoimmune hypothyroidism is the commonest thyroid problem in Trisomy 21, infants with this chromosomal disorder are also known to have dysregulated pituitary thyroid axis. This results in elevated thyrotropin (TSH) levels in absence of autoimmunity and structurally normal thyroid gland. The mechanism for this phenomenon is not clearly understood and it is possible that this may be due to genomic imbalance from trisomy of chromosome 21. Some authors have proposed that thyroid hormone resistance (RTH) might be a contributing factor to this. However, the genes coding for TSH receptor and the two proteins known to be implicated in TSH resistance are normal in patients with Trisomy 21. In newborns, transient hyperthyrotropinaemia is considered to be associated wi...

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Age-Related Patterns of Thyroid-Stimulating Hormone Response to Thyrotropin-Releasing Hormone Stimulation in Down Syndrome

Cited by 27 publications

References 17 publications

Down Syndrome and Thyroid Disorders: A Review

Down Syndrome and Thyroid Disorders: A Review

Avaliação etiológica da hipertirotropinemia em crianças com síndrome de Down

Neonatal Pituitary-Thyroid Axis Dysregulation with Combined Thyroid Hormone and Thyrotropin Resistance in Infant with Trisomy 21 and Maternal Subclinical Hypothyroidism

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