Abstracts & Reference Information for medical practitioners
Thyroid & Zinc issues in Down syndrome.
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Thyroid Laboratory Ranges and Basal Body Temperature
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Total T3 (Triiodothyronine) Age ng/dL nmol/L
Newborn 7.5 - 260 1.16 - 4.00
1-5 years 100 - 2600 1.54 - 4.00
5-10 years 90 - 240 1.39 - 3.70
10-15 years 80 - 210 1.23 - 3.23
> 15 years 155 - 190 1.77 - 2.93
Total T4 (Thyroxine) Age µgr/dL nmol/L
1-3 days 8.2 - 19.9 106 - 256
1 week 6.0 - 15.9 77 - 205
1-12 months 6.1 - 14.9 79 - 192
1-3 years 6.8 - 13.5 88 - 174
3-10 years 5.5 - 12.8 71 - 165
> 10 years 4.2 - 13.0 54 - 167
TSH (Thyroid Stimulating Hormone) Age Normal Range (mIU/L)
2-20 weeks 1 - 28.9
5 months-20 years 0.7 - 6.4
Operational criteria for thyroid disorders Free T4 TSH
Hypothyroidism Low (<9pmol/L) High (>5mU/L)
Hypothytoidism
(subclinical/compensated) Normal (9-24pmol/L) High (>5mU/L)
Hyperthyroidism High (>9pmol/L) Low (<0.5mU/L)
Basal Body Temperature (originated by Dr. Broda Barnes)
The thyroid is the gland most responsible for metabolic rate and, thus, basal temperature.
The normal basal body temperature range is between 97.7° and 98.2° Fahrenheit. Low basal temperatures, below 97.7° F., may reflect hypothyroidism; high basal temperatures, above 98.2° F., may be evidence of hyperthyroidism (or an infection).
The function of the thyroid gland can be determined by measuring the basal body temperature with a thermometer:
Use an oral glass mercury thermometer
Shake the thermometer down before going to bed (be sure that it is shaken down and below 95 degrees) and leave it on the bedside table within easy reach. No waterbed or electric blankets.
Immediately upon awakening, and with as little movement as possible, place the thermometer firmly in the armpit next to the skin (the reading taken by armpit is somewhat lower and somewhat more accurate than by mouth, which may vary with mouth breathers) and leave it in place for 10 minutes (the more you move, the more your basal temperature will be raised, and the less accurate the reading).
Record the readings for three consecutive days.
Menstruating women must take the basal temperature test for thyroid function only on the 1st, 2nd, 3rd or 4th day of menses (preferably beginning on the 2nd day).
Males, pre-pubertal girls, and post-menopausal or non-menstruating women may take basal temperatures any day of the month. Women taking progesterone should not take it the day before and the days that the basal temperatures are taken.
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Source: 1. Nelson's Textbook of Pediatrics, 1999 http://www.altonweb.com/cs/downsyndrome/thyroidlab.html
2. Parle JV, Franklyn JA, Cross KW, Jones SC, & Sheppard, MC (1991). Prevalence and follow-up of abnormal thyrotrophin (TSH) concentrations in the elderly in the United Kingdom. Clinical Endocrinology, 34, 77-83. Revised: February 16, 2000.
Down Syndrome & Thyroid Abstracts Tables
Citation
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Title: Zinc Sulfate Supplementation Improves Thyroid Function in Hypozincemic Down Children
Journal: Biol Trace Elem Res Date of Pub: 1999 Mar
Author: Bucci I, Napolitano G, Giuliani C, Lio S, Minnucci A, Di Giacomo F et al.
Issue/Part/Supplement: 3 Volume: 67 Pagination: 257-68
Abstract: In subjects affected by trisomy 21 (Down syndrome), hypothyroidism is the most common endocrinological deficit. Plasma zinc levels, which are commonly detected below the normal range in Down patients, are related to some endocrinological and immunological functions; in fact, zinc deficiency has been shown to impair immune response and growth rate. Aims of this study were to evaluate (1) the role of zinc deficiency in subclinical hypothyroidism and (2) thyroid function changes in Down children cyclically supplemented with zinc sulfate. Inverse correlations have been observed between age and triiodotironine (T3) and between zinc and thyroid-stimulating hormone (TSH); higher TSH levels have been found in hypozincemic patients at the beginning of the study. After 6 mo of supplementation, an improvement of thyroid function (TSH levels: 3.96 ± 1.84 vs 2.64 ± 1.33 mUI/mL basally and after 6 mo, respectively) was observed in hypozincemic patients. In the second cycle of supplementation, a similar trend of TSH was observed. At the end of the study, TSH significantly decreased in treated hypozincemic subjects (4.48 ± 1.93 vs 2.96 ± 1.20 mUI/mL) and it was no longer different in comparison to normozincemic patients. We suggest zinc supplementation to the diet in hypozincemic Down children as a simple and useful therapeutic tool.
Address: Cattedra di Endocrinologia, Universita G. D'Annunzio, Chieti, Italy
Title: Estudio de la función tiroidea en personas con síndrome de Down [A thyroid function study in subjects with Down's syndrome]
Journal: Aten Primaria Date of Pub: 1999 Feb 15
Author: Castro Lobera A; Linares Garcia-Valdecasas R
Issue/Part/Supplement: 2 Volume: 23 Pagination: 87-90
Abstract: OBJECTIVE: The main objective is to know the application degree of Spanish Health Program for Down Syndrome People respect to thyroid function. The secondary objective is to know the thyroid pathology in our population. DESIGN: Observational, descriptive and crossoverstudy. SETTING: Primary care teams in collaboration with endocrinology services. PARTICIPANTS: Down syndrome people who lived in Albacete in 1993. MEASUREMENTS AND MAIN RESULTS: Survey to Down syndrome parents. Determination of thyroid hormones: T3, T4 and TSH,and thyroid autoantibodies (thyroglobulin and microsomal autoantibodies). RESULTS: 15.5% of our population had been done thyroid analysis before this study. The prevalence of thyroid pathology is 50.6% of the studied population. CONCLUSIONS: Due to low application of this program and its usefulness in thyroid pathology detection, we think that its should be used in primary care.
Address: Delegación Provincial de Sanidad de Albacete
Title: The association of congenital hypothyroidism and congenital gastrointestinal anomalies in Down's syndrome infants
Journal: J Pediatr Endocrinol Metab Date of Pub: 1998 Mar-Apr
Author: Jaruratanasirikul S; Patarakijvanich N; Patanapisarnsak C
Issue/Part/Supplement: 2 Volume: 11 Pagination: 241-6
Abstract: OBJECTIVE: To study the prevalence of congenital hypothyroidism in infants with Down's syndrome and to verify whether there is an association with other congenital defects. METHODS: This is a prospective study of 112 Down patients, less than 1 year of age, who attended Songklanagarind Hospital from January 1991 to December 1996. Free T4 and TSH determinations were performed in all Down infants. Information on karyotype, sex, maternal age and other congenitalanomalies was collected. RESULTS: Congenital hypothyroidism was detected in 17 patients (15.2%); 3 overt congenital hypothyroidism; 6 persistent compensated hypothyroidism; and 8 transient compensated hypothyroidism. Nine of the 20 patients (45%) with congenital gastrointestinal anomalies had congenital hypothyroidism, while 8 out of 92 patients (8.7%) without congenital gastrointestinal anomalies had congenital hypothyroidism. The odds ratio was 8.59 (95% confidence interval 2.4-31.6; p = 0.0001). CONCLUSION: Congenital hypothyroidism has a relatively high prevalence rate in Down infants and tends to occur in Down patients with gastrointestinal anomalies.
Address: Department of Pediatrics, Faculty of Medicine, Prince of Songkla University Hat-Yai, Thailand
Title: Growth Studies in Infants and Children with Down's Syndrome and Elevated Levels of Thyrotropin
Journal: AJDC Date of Pub: 1998
Author: Sharav T, Collins R, Baab P.
Issue/Part/Supplement: Volume: 142 Pagination: 1302-6
Abstract:
Address:
Title: The impact of thyroid autoimmunity in children and adolescents with Down syndrome
Journal: Acta Paediatr Date of Pub: 1997 Oct
Author: Ivarsson SA; Ericsson UB; Gustafsson J; Forslund M; Vegfors P; Annerén G
Issue/Part/Supplement: 10 Volume: 86 Pagination: 1065-7
Abstract: The extent to which autoimmunity contributes to thyroid dysfunction in individuals with Down syndrome (DS) has not been clarified. In this study, we used the same highly sensitive method to detect both thyroid autoantibodies (thyroglobulin and thyroid peroxidaseautoantibodies) in 70 children (32 M and 38 F) with DS, mean age 10.5 y (range 1-19 y). Twenty-seven (39%) of the patients were found to have thyroid autoantibodies, the prevalence of antibody positivity increasing with age. Of the 17 (24%) of the series who were hypothyroid (i.e. high basal TSH level and a low total- or free-T4 level), 11 had thyroid autoantibodies, and another 6 with thyroid autoantibodies became hypothyroid during 13-35 months of follow-up. Thus, the findings suggest that the majority of hypothyroid children with DS suffer from autoimmune thyroid disease.
Address: Department of Paediatrics, University of Lund, University Hospital, Malmo, Sweden
Title: Anomalies du fonctionnement thyroidien des enfants trisomiques 21 [Anomalies of thyroid function in children with Down syndrome]
Journal: Arch Pediatr Date of Pub: 1997 Feb
Author: Toledo C; Alembik Y; Dott B; Finck S; Stoll C
Issue/Part/Supplement: 2 Volume: 4 Pagination: 116-20
Abstract: BACKGROUND: Abnormal thyroid function was shown in children with Down syndrome (DS). This study was undertaken in order to specify these anomalies. POPULATION AND METHODS: Thyroid function of 105 children with DS aged from 3 months to 20 years was studied by evaluation of serum concentration of thyrotropin, free T4 (FT4), free T3 (FT3) andreverse T3 (rT3). Each DS child was matched to a control of the same age. RESULTS: The mean concentration of thyrotropin of children with DS was increased while the mean concentration of rT3 of the DS children was significantly decreased compared with the controls, as was the ratio rT3/TSH. When DS children are split into two groups, those with and those without increased thyrotropinemia, a significant decrease in the ratio rT3/TSH appeared in DS children with increased thyrotropinemia whereas there is no difference between these two groups regarding to level of FT4, FT3, rT3 and zincemia. However, in all DS children serum zinc levels were lower than in controls. Thyrotropin levels rapidly normalized after thyroxin treatment. CONCLUSION: One half of the children with DS have increased thyrotropinemia and all have a decreased rT3.
Address: Institut de Puericulture, CHU, 23, Strasbourg, France
Title: Short-term prognosis of depression in adults with Down's syndrome: association with thyroid status and effects on adaptive behaviour
Journal: J Intellect Disabil Res Date of Pub: 1996 Feb
Author: Prasher VP, Hall W
Issue/Part/Supplement: 1 Volume: 40 Pagination: 32-8
Abstract: Findings for Down's syndrome adults with depression were compared to those for non-depressed Down's syndrome controls. Mean age of onset of depression was 30.1 years, the majority of subjects were female and biological more so than psychotic symptoms were presenting features. No statistically significant association between depression and thyroid dysfunction was found. For the depressed group, scores for level of adaptive functioning were significantly lower and those for maladaptive behaviour significantly higher. At one-year follow-up, although some improvement was found, the majority of depressed subjects were still symptomatic. The short-term prognosis for depression in adults with Down's syndrome appears to be poor but possibly better the earlier the age of onset.
Address: Department of Psychiatry, University of Birmingham, Queen Elizabeth Psychiatric Hospital, England
Title: Natural course of subclinical hypothyroidism in Down's syndrome: prospective study results and therapeutic considerations
Journal: J Endocrinol Invest Date of Pub: 1995 Jan
Author: Rubello D; Pozzan GB; Casara D; Girelli ME; Boccato S; Rigon F; Baccichetti C; Piccolo M; Betterle C; Busnardo B
Issue/Part/Supplement: 1 Volume: 18 Pagination: 35-40
Abstract: Pathogenesis, natural course and therapeutic management of subclinical hypothyroidism (SH) in Down's syndrome (DS) remain object of debate in literature. In the present study thyroid function, antithyroid antibody (ATA) prevalence and serum lipid concentrations were investigated in a group of 344 Down patients (DP) and data were compared with those obtained from a control group of 257 age and sex matched healthy subjects. Thyroid function and ATA prevalence were also studied in 120 parents of DP. SH prevalence was clearly higher in DP (32.5% of cases) than in controls (1.1%) and parents (0%). Similarly, ATA prevalence was higher in DP (18% of cases) than in controls (5.8%) and parents (6.6%). In spite of this, no correlation was found in DP between SH and ATA prevalences, since ATA were detected in 18.7% of SH-DP and in 15.8% of euthyroid DP. Thus, circulating ATA were not detected in the majority of SH-DP. No significant differences regarding T4, FT4, T3 and serum lipid levels among SH and euthyroid DP and controls were found. Moreover, TSH levels were only slightly increased, generally less than 10microU/ml, in most cases of SH-DP. Follow-up was longer than 24 months (range 2-7 years, mean 3.1) in a group of 201 DP: two different patterns of SH course were observed, mainly depending on the presence or the absence of circulating ATA. In particular, 35.7% of ATA-positive SH-DP developed a clinically evident thyroid disease (overt hypothyroidism or hyperthyroidism), while no similar case was recorded among ATA-negative SH-DP.
Address: Thyroid Center, General Hospital, Padova, Italy
Title: Thyroid function and plasma immunoglobulins in subjects with Down's syndrome (DS) during ontogenesis and zinc therapy
Journal: J Endocrinol Invest 1994 Jun;17(6):385-90 Date of Pub: 1994 Jun
Author: Šustrová M; Strbak V
Issue/Part/Supplement: 6 Volume: 17 Pagination: 385-90
Abstract: Thyroid function parameters and immunoglobulin concentrations in sera of outpatients with Down's syndrome (DS, n = 110) of different ages (DS1 = 1-9 years; DS2 = 6-15; DS3 = 15-35) were compared with those of age-matched controls (n = 110). Although mean serum TSH was higher in all DS groups, thyroid hormone concentrations were significantly lower only in DS3. In DS1, a notable frequency rate of high T4 and T3 was found. Serum concentrations of thyroxine binding globulin (TBG) were significantly higher in all DS groups. Free T4 and T3 indexes, calculated as the ratio of total hormone: TBG concentrations, were lower in all DS groups. IgA serum concentrations were significantly higher in all DS groups, IgA was higher in DS1 and DS2. Serum zinc levels were lower in all DS groups. Repeated examination after one year revealed lower T4 and higher TSH in DS patients treated with zinc during this interval as compared to values observed before treatment. Our results suggest a high occurrence rate of complex immune and endocrine disorders with thyroid dysregulation in DS patients, with zinc deficiency playing a considerable role.
Address: Department of Clinical Immunology, Children's Hospital, Bratislava, Slovakia
Title: Modulation of the neuroendocrine system and immune functions by zinc supplementation in children with Down's syndrome
Journal: J Trace Elem Electrolytes Health Dis Date of Pub: 1993 Dec
Author: Licastro F; Mocchegiani E; Masi M; Fabris N
Issue/Part/Supplement: 4 Volume: 7 Pagination: 237-9
Abstract: Plasma levels of TSH, T4, T3, and reversal T3 (rT3) were measured in 51 children with trisomy of the chromosome 21 and in 15 controls. Levels of TSH were higher in children with DS than in controls and rT3 levels were decreased. However, T3 and T4 levels were in the normal range. Plasmic zinc and thymulin, a zinc-dependent thymichormone, were also decreased. After dietary supplementation with ZnSO4, levels of plasmic zinc, thymulin, TSH and rT3 were restored. A follow up of DS children one year after the cessation of zinc therapy showed that plasma levels of zinc decreased and TSH lightly increased. Zinc deficiency may play a crucial role in the pathogenesis of thyroid gland disfunction which leads to the autoimmune hypothyroidism often observed in this syndrome.
Address: Department of Experimental Pathology, University of Bologna, Italy
Title: Zinc affects the metabolism of thyroid hormones in children with Down's syndrome: normalization of thyroid stimulating hormone and of reversal triiodothyronine plasmic levels by dietary zinc supplementation
Journal: Int J Neurosci Date of Pub: 1992 Jul-Aug
Author: Licastro F; Mocchegiani E; Zannotti M; Arena G; Masi M; Fabris N
Issue/Part/Supplement: 1-4 Volume: 65 Pagination: 259-68
Abstract: Levels of circulating thyroid stimulating hormone (TSH), tetraiodothyronine (T4), 3,5,3'-triiodothyronine (T3), and 3,3',5'triiodothyronine (reversal T3 or rT3) were measured in 25 children with trisomy of chromosome 21, also known as Down's syndrome (DS), and in 14 normal children. In subjects with DS TSH levels were increased, while plasmic levels of rT3 were decreased. No alteration in T3 and T4 levels was observed. Before zinc supplementation, plasmic levels of zinc and thymulin, a zinc dependent thymic hormone, were significantly decreased in DS children. After four months of dietary supplementation with zinc sulphate, a normalization of plasmic zinc, thymulin and TSH levels was observed. Plasmic levels of rT3 significantly increased, and after zinc treatment no difference was detectable between DS children and normal children. Clinical evaluation of the health status of DS children showed that zinc supplementation decreased the incidence of infectious diseases and improved school attendance. Thus, the increased efficiency of the immune system and the normalization of some endocrine parameters by zinc supplementation suggests that zinc deficiency may play a crucial role in some of the pathological manifestations associated with the syndrome, such as infections and malfunctioning of the thyroid gland.
Address: Department of Experimental Pathology, University of Bologna, Italy
Title: La funzionalita tiroidea in bambini affetti da sindrome di Down [Thyroid function in children with Down's syndrome]
Journal: Minerva Pediatr Date of Pub: 1992 Jan-Feb
Author: Colombo ML; Bona G; Quaglia P; Zaffaroni M; Maina DLuotti D
Issue/Part/Supplement: 1-2 Volume: 44 Pagination: 11-6
Abstract: The aim of the present study was to evaluate thyroid function in 45 Down's syndrome patients in order to verify the hypothesis of an increased risk of thyroid disorders associated with trisomy 21. A patient with subclinical hypothyroidism (TSH 16.6 microU/ml; T4 6.4 micrograms/dl) was diagnosed in a group of 28 subjects with Down's syndrome studied at a mean age of 6 years and 5 months using T3, T4, FT3, FT4, TSH assays and clinical examination. T4 and TSH values were also measured in 10 of these children at the neonatal screening. One infant presented transient neonatal hyperthyrotropinemia but later became euthyroid. The analysis of thyroid hormone values at the neonatal screening of other 17 subjects with Down's syndrome did not reveal other cases with thyroid function disorders. The results of this study highlight that altered thyroid functions are evident in children with trisomy 21 associated with heart anomalies. A careful clinico-endocrinological follow-up of patients with Down's syndrome is recommended in order to ensure an early diagnosis of thyroid function disorders and/or autoimmune diseases which might complicate the evolution of trisomy and negatively affect outcome.
Address: Divisione Universitaria di Pediatria, Ospedale S. Luigi Gonzaga, Orbassano, Torino
Title: Effect of thyroid stimulating hormone on adaptive behaviour in Down's syndrome
Journal: J Ment Defic Res Date of Pub: 1991 Dec
Author: Bhaumik S; Collacott RA; Garrick P; Mitchell C
Issue/Part/Supplement: 6 Volume: 35 Pagination: 512-20
Abstract: Patients with Down's syndrome are particularly vulnerable to the development of both hypothyroidism and Alzheimer's disease. Both hypothyroidism and Alzheimer's disease may be associated with elevated serum concentrations of thyroid stimulating hormone. In a group of institutionalized Down's syndrome patients with normal thyroid function, global scores of ability were higher than in a group of patients with elevated thyroid stimulating hormone levels in the presence of normal T3 and T4. The actual concentrations of thyroid stimulating hormone were shown to be significantly and inversely correlated with scores of global abilities. If these findings are reproducible, the authors believe that thyroid stimulating hormone estimation may provide confirmatory evidence of clinical dementia in this group of mentally handicapped individuals.
Address: Frith Hospital, Leicester, England
Title: Hormonal and biochemical disturbances in Down's syndrome
Journal: J Ment Defic Res Date of Pub: 1991 Jun
Author: Hestnes A, Stovner LJ, Husoy O, Folling I, Fougner KJ, Sjaastad O
Issue/Part/Supplement: 3 Volume: 35 Pagination: 179-93
Abstract: Clinical and laboratory endocrine variables in 29 adult institutionalized patients with Down's syndrome were compared with those of matched controls consisting of other mentally retarded patients from the same institution. Of the clinical variables, testes volume and body height were significantly lower in patients with Down's syndrome than in control patients. The thyroid function tests documented a higher average TSH level in Down's syndrome than in other mentally retarded patients. However, there was no clear-cut correlation between TSH and thyroid hormone levels. The data indicate that there is a tendency towards primary thyroid dysfunction in Down's syndrome. In addition, there is some evidence indicating a relative failure of TSH secretion. In male patients, estradiol was elevated compared to controls. FSH and LH also seemed slightly higher in the study group, but the differences only reached statistical significance when patients on chronic medication were omitted. Prolactin was significantly greater in the Down's syndrome patients than in the controls, both over the entire sample and in the subgroup of men with Down's syndrome, with P-values of around 0.001. The elevation of prolactin was not due to medication and did not correlate to thyroid function or difficulties during blood sampling. In females, the difference was not statistically significant. Laboratory tests that may be associated with endocrine disease or might indicate disease which could influence the endocrine status, were also included in this study. Compared with the controls, ESR, creatinine and uric acid levels were higher in Down's syndrome patients, while albumin was lower, all with P-values lower than 0.001. Vitamin B12 was moderately lower in Down's syndrome patients than in controls (P less than 0.05).
Address: Hallsetheimen, Central Institution for the Mentally Retarded, Klaebu, Norway
Title: Age-related patterns of thyroid-stimulating hormone response to thyrotropin-releasing hormone stimulation in Down syndrome
Journal: Am J Dis Child Date of Pub: 1991 Feb
Author: Sharav T; Landau H; Zadik Z; Einarson TR
Issue/Part/Supplement: 2 Volume: 145 Pagination: 172-5
Abstract: Thyroid function in subjects with Down syndrome was studied using the thyrotropin-releasing hormone test. Forty-seven infants and children with Down syndrome were investigated. Ages ranged from 1 month to 7 years; there were 26 boys and 21 girls. Fourteen of the subjects with Down syndrome who had an exaggerated thyroid-stimulating hormone response to thyrotropin-releasing hormone stimulation had two or more annual follow-up tests. The remaining 33 subjects who only underwent one thyrotropin-releasing hormone test were compared with 22 age-matched controls (11 boys and 11 girls). Mean basal thyroxine 4 andtriiodothyronine 3 values were in the normal ranges. All thyroid antibody titers were negative. Mean basal thyroid-stimulating hormone levels of subjects with Down syndrome were significantly higher than those of controls for all ages, even though there was a decline in thyroid-stimulating hormone levels in both groups. Peak thyroid-stimulating hormone response levels were significantly greater in the subjects with Down syndrome than in the controls. Longitudinal study of the 14 children with Down syndrome with an exaggerated thyroid-stimulating hormone response showed that the response remained exaggerated until the third year of life, when it declined to normal levels. Thyroid dysfunction during the growth spurt of infancy or delayed maturation of the hypothalamic pituitary thyroid axis are proposed mechanisms.
Address: Jerusalem Child Development Center, Israel
Title: Thyroid function in Down syndrome
Journal: Research in Developmental Disabilities Date of Pub: 1991
Author: Pueschel SM; Jackson IM; Giesswein P; Dean MK; Pezzullo JC
Issue/Part/Supplement: 3 Volume: 12 Pagination: 287-96
Abstract: The thyroid function of 181 patients with Down syndrome was investigated. When compared with a control group of 163 children we found T4 and FT4 levels to be significantly lower and T3 and TSH levels to be significantly higher in the Down syndrome population. Of the 181 patients with Down syndrome, 29 (16%) showed evidence of either uncompensated or compensated hypothyroidism: 11 (6%) had both low T4 and high TSH levels, 14 (8%) had only high TSH values, and 4(2%) had only low T4 values. One of the patients with Down syndrome had a significantly elevated T4 level. Studying different age groups, we observed a decline of the mean T4, FT4, T3, FT3, and TBG values with advancing age. T4, T3, and TSH blood levels obtained in 1988 were slightly but not significantly lower when compared with values from 1985. Because thyroid dysfunctions in patients with Down syndrome are more common than in the general population, periodic thyroid hormone function tests should be performed in persons with Down syndrome in particular as they advance in age. Thus, individuals with significantly abnormal results can be identified early before clinical symptoms become manifest. If patients with Down syndrome are found to have a thyroid hormone disorder, appropriate treatment should be forthcoming, which in turn will enhance their quality of life.
Address: Department of Pediatrics, Rhode Island Hospital
Title: Mandibular and Dental Development Subsequent to Thyroid Therapy in a Boy with Down's Syndrome. Report of a Case
Journal: J Dent Child Date of Pub: 1991
Author: Reuland-Bosma, W.; Dibbets, J.M.H.
Issue/Part/Supplement: Volume: 58 Pagination: 64-68
Abstract: Down's syndrome goes together with retarded growth, leading to shortness in stature, characteristic development of the face and a delayed dental development. Additional growth retardation because of hypothyroidism, which is often present, may therefore remain unnoticed. However, the dentist can recognize timely hypothyroidism by a substantially delay in the transition of the dentition and less so in delay in dental age compared to chronological age. On a panoramic radiograph a retained deciduous dentition and a permanent dentition of which the apices were in close proximity to the lower border of the mandible was observed. After the diagnosis hypothyroidism, treatment with thyroid hormone was started and catch up growth in body length and mandibular jaw development was observed. The vertical height of the corpus continued to be small. The progression of the dental age was not accelerated. The transition of the dentition however accelerated considerably. Several events in general about eruption of teeth and growth of the mandible could be noted and are summarized as follows: 1. The dentist should be alert on diagnosing hypothyroidism in Down's syndrome children. 2. Dental age is more or less independent of thyroid hormone therapy and is more closely related to the effect of the syndrome 3. root formation is independent of occlusal drift 4. eruption and root formation are separately regulated phenomena 5. the growth processes of the mandible may be regulated locally at different sites under influence of different endocrine hormones.
Address: School of Dental Medicine of Marburg, Department of Orthodontics
Title: A five-year longitudinal study of thyroid function in children with Down syndrome
Journal: Dev Med Child Neurol 1993 May;35(5):396-401 Date of Pub: 1991
Author: Selikowitz M
Issue/Part/Supplement: 5 Volume: 35 Pagination: 396-401
Abstract: The thyroid function and health status of 101 children with Down syndrome were assessed annually for five years. One child had congenital hypothyroidism at entry to the study. During the study period, eight more developed compensated hypothyroidism. Five of 10 children with compensated hypothyroidism still had the condition at the end of the study, it resolved spontaneously in four and one child developed uncompensated hypothyroidism. There were no significant differences in growth and development between those with compensated hypothyroidism and those with normal thyroid function. Two children developed transient rises in thyroxine, associated with elevations in thyroid-stimulating hormone (TSH). A large proportion of thyroid dysfunction in children with Down syndrome is transient and may be related to inappropriate secretion of TSH or thyroid insensitivity to TSH, rather than to auto-immune thyroiditis.
Address: Tumbatin Developmental Clinic, Prince of Wales Children's Hospital, Randwick, Australia
Title: Autoimmune thyroiditis associated with mild "subclinical" hypothyroidism in adults with Down syndrome: a comparison of patients with and without manifestations of Alzheimer disease
Journal: Am J Med Genet Date of Pub: 1990 Jun
Author: Percy ME; Dalton AJ; Markovic VDCrapper McLachlan DR; Gera E; Hummel JT; Rusk AC; Somerville MJ; Andrews DFWalfish PG
Issue/Part/Supplement: 2 Volume: 36 Pagination: 148-54
Abstract: Serum tests of thyroid function were compared in Down syndrome (DS) patients with and without manifestations of Alzheimer disease (AD). Relative to control individuals, DS patients had, overall, lower meantotal T4 (P = 0.070) and T3f (P = 0.015), higher T3U (P = 0.013) and TSH (P = 0.020), no difference in free T4, and higher thyroid antithyroglobulin (ATA) (P = 0.033) and antimicrosomal autoantibody (AMA) titres (P = 0.0097). Similar trends were apparent in DS males and females, and in DS patients off all drugs. In an analysis of case/control pairs with corrections for age and sex, DS patients with AD manifestations (n = 9) had significantly lower T3 (P = 0.029) and higher AMA (P = 0.043) than paired control individuals, whereas DS patients without AD manifestations (n = 20) had significantly lower T3 (P = 0.013) but higher ATA (P = 0.0065). T3 was significantly lower in the DS patients with AD manifestations than in the unaffected (P = 0.0013). These data suggest that autoimmune thyroiditis associated with a mild "subclinical" form of hypothyroidism is common in adult DS patients and more pronounced inpatients with AD manifestations than in those without. This "subclinical" hypothyroidism may contribute to cognitive deficits in ageing DS patients.
Address: Department of Obstetrics and Gynaecology, University of Toronto, Canada
Title: Down's syndrome and thyroid disorder
Journal: J Ment Defic Res Date of Pub: 1990 Apr
Author: Dinani S; Carpenter S
Issue/Part/Supplement: 2 Volume: 34 Pagination: 187-93
Abstract: The thyroid status of 106 adults with Down's syndrome was assessed. Six were previously diagnosed as hypothyroid and were already receiving thyroxine. A further 37 patients showed abnormal thyroid function. Biochemical evidence of hypothyroidism (T4 less than 50 nmol/l and T.S.H. greater than 4 mu/less than) was found in one person. Six patients were found to have an unequivocally elevated T.S.H. but normal T4 (T4 greater than 50 nmol/l and T.S.H. greater than 20 mu/l) and 29 were found to have a modest elevation of T.S.H.but normal T4 concentration (T4 greater than 50 nmol/l and T.S.H. between 4 and 20 mu/l). There was one patient with mildthyrotoxicosis (T4 = 180 nmol/l and T.S.H. less than 0.1 mu/l). Clinical findings were of little use in making a diagnosis of hypothyroidism in this group of patients. A raised level of thyroid microsomal auto-antibodies was found in about a third of the patients, this occurred more commonly in females and slightly more often in those with a raised thyroid stimulating hormone. The importance of this is discussed. Recommendations for regular biochemical screening are made.
Address: Department of Psychiatry, Brentry Hospital, Bristol, England
Title: Thyroid function in patients with Down syndrome: preliminary results from non-institutionalized patients in the Veneto region
Journal: Am J Med Genet Suppl Date of Pub: 1990
Author: Pozzan GB; Rigon F; Girelli ME; Rubello DBusnardo B; Baccichetti C
Issue/Part/Supplement: Volume: 7 Pagination: 57-8
Abstract: We investigated thyroid function of 108 home-reared Down syndrome (DS) patients. Five had overt hypothyroidism, 2 were hyperthyroid, and 33 had high TSH values with an exaggerated response to TRH test despitehormone levels in the normal range. This finding indicated subclinical hypothyroidism. Antithyroid antibodies (antimicrosome andantithyroglobulin) were present in 13 patients. At the same time we investigated 73 parents: only one mother was hypothyroid andantithyroid autoantibodies were found in only 8% of Down syndrome parents.
Address: Department of Pediatrics, University of Padua, Italy
Title: Relationship of autoimmunity to thyroid dysfunction in children and adults with Down syndrome
Journal: Am J Med Genet Suppl Date of Pub: 1990
Author: Zori RT; Schatz DA; Ostrer H; Williams CA; Spillar R; Riley WJ
Issue/Part/Supplement: Volume: 7 Pagination: 238-41
Abstract: The extent to which autoimmunity contributes to thyroid dysfunction in Down Syndrome (DS) individuals has not been clarified. We studied 61 persons (34 males and 27 females) with DS (age 5 months to 48 years)for the presence of thyroid autoantibodies (thyroid microsomalantibodies and thyroglobulin antibodies), pancreatic islet cell autoantibodies, gastric parietal cell autoantibodies, andadrenocortical autoantibodies. Thyroid function was determined by measurement of TSH. HLA-A, B and -DR typing was performed on 52 subjects. Forty of 61 subjects (66%) had thyroid dysfunction: elevated TSH values (greater than 5 mcIU/ml) were found in 35 of 61 individuals; 3 subjects had previously documented Hashimotothyroiditis and were on therapy for hyperthyroidism; and 2 persons had Graves disease. No age or sex variation was detected. Seventeen (28%) subjects had thyroid autoantibodies. Fifteen of the 17 had thyroid dysfunction. Twelve of 25 subjects (48%) over 10 years with thyroid dysfunction had thyroid autoantibodies compared to only 3 of 15 (20%) under the age of 10 years. However, children less than of 10 years tended to have higher TSH values. Only 1 individual who had thyroid antibodies had gastric parietal cell autoantibodies present. Islet cell and adrenocortical autoantibodies were not found in any individuals. Neither thyroid dysfunction nor thyroid autoantibodies correlated with any HLA allele. These findings suggest that thyroid dysfunction in individuals with DS of all ages is a common heterogeneous disorder which cannot be solely explained on the basis of autoimmunity. We recommend that thyroid function be followed closely whether or not thyroid autoantibodies are present.
Address: Department of Pediatrics, University of Florida, Gainesville 32610
Title: Is zinc deficiency a cause of subclinical hypothyroidism in Down syndrome?
Journal: Ann Genet 1990 Date of Pub: 1990
Author: Napolitano G; Palka G; Lio S; Bucci I; De Remigis P Stuppia L; Monaco F
Issue/Part/Supplement: 1 Volume: 33 Pagination: 9-15
Abstract: In Down syndrome there is a high incidence of overt or subclinical hypothyroidism as well as some immunological defects, early thymicinvolution associated to low serum zinc levels. Zinc supplementation to the diet has been reported to transiently improve thymic function; moreover thymic function has been shown to be in relation with the pituitary-thyroid axis. The aim of this study was to evaluate if, in Down patients, zinc therapy could improve also thyroid function, by determining serum levels of total and free thyroid hormones and basal TSH levels. In 52 patients studied, we found a high incidence of subclinical hypothyroidism (30%); in 17 patients treated with zinc sulphate we showed a reduction of FT3. More significantly, we detected 9 patients with low zinc levels in which zinc supplementation improved thyroid function, thus reducing the incidence of subclinical hypothyroidism.
Address: Chairs of Endocrinology, University G. d'Annunzio, Chieti, Italy
Title: Anomalies de la fonction thyroidienne chez les enfants trisomiques 21 [Anomalies in thyroid function in children with trisomy 21]
Journal: J Genet Hum Date of Pub: 1989 Dec
Author: Stoll C; Alembik Y; Dott B; Finck S
Issue/Part/Supplement: 4-5 Volume: 37 Pagination: 389-93
Abstract: Thyroid function of 60 children with Down (DS) aged 3 months to 16 years was studied by evaluation of serum concentration of ultra-sensitive thyroid stimulating hormone (TSH), free T4 and T3 (FT4, FT3), total T4 and T3 (T4 and T3) and reverse T3 (rT3). Each DS child was matched to a control of the same age. The concentration of TSH was increased in DS children while the concentration of rT3 of the DS children was significantly decreased compared to the controls as was the ratio rT3/TSH. These results showed that thyroid function of DS children is abnormal.
Address: Institut de Puericulture, Centre Hospitalo-Universitaire, Strasbourg, France
Title: Thyroid Dysfunction in Individuals with Down Syndrome
Journal: Arch Intern Med Date of Pub: 1989 Sep
Author: Friedman DL; Kastner T; Pond WS; O'Brien DR
Issue/Part/Supplement: 9 Volume: 149 Pagination: 1990-3
Abstract: A group of 138 community-based patients with Down syndrome were examined for evidence of autoimmune thyroid dysfunction at the time of their referral for routine health care services provided as part of a model program. Twenty-eight patients (20.3%) were found to have previously unrecognized hypothyroidism, and 2 patients (1.4%) had previously unrecognized hyperthyroidism. In addition, 66 patients were tested for thyroid autoantibodies, and 26 were found to have positive antimicrosomal and/or antithyroglobulin antibody test results. There was no statistically significant association between age or sex and the mean thyrotropin value or the presence of thyroid autoantibodies. The relationship between the mean thyroxine level and sex was mildly significant. Of the patients with hypothyroidism, 78.5% were female, and most were between the ages of 30 and 50 years. However, a higher-than-expected number of patients with autoimmune hypothyroidism were under age 30 years. These findings highlight the lack of adequate health care services available to persons with Down syndrome who live in the community. All persons with Down syndrome must undergo regular clinical and laboratory screening for the presence of thyroid disease.
Address: Developmental Disabilities Center, Morristown Memorial Hospital, NJ 07960
Title: Growth studies in infants and children with Down's syndrome and elevated levels of thyrotropin
Journal: Am J Dis Child Date of Pub: 1988 Dec
Author: Sharav T; Collins RM Jr; Baab PJ
Issue/Part/Supplement: 12 Volume: 142 Pagination: 1302-6
Abstract: A retrospective survey of 147 patients with Down's syndrome (age range, 4 months to 27 years) showed that 60% had a thyrotropin (TSH) level higher than 5.7 mU/L in the presence of high or normal thyroxine levels. The remaining 40% of the group had low to normal TSH values. High TSH levels were predominant in patients under 4 years of age (94 children), ie, during the phase of active growth,and showed a declining trend with increasing age. All 94 infants had delayed growth of all parameters including head circumference, height, and weight, as compared with normal infants, and growth was particularly retarded in patients with TSH levels greater than 5.7mU/L. Thyroid dysfunction, expressed as a high TSH concentration, is associated with growth retardation in children with Down's syndrome who are younger than 4 years.
Address: Hadassah-WIZO-Canada Research Institute, Jerusalem, Israel
Title: Fonction thyroidienne et trisomie 21 exces de TSH et deficit en rT3 [Thyroid function and trisomy 21. TSH increase and rT3 deficiency]
Journal: Ann Genet Date of Pub: 1988
Author: Lejeune J; Peeters M; de Blois MC; Bergere MGrillot A; Rethore MO; Vallee G; Izembart M; Devaux JP
Issue/Part/Supplement: 3 Volume: 31 Pagination: 137-43
Abstract: An excess of thyrotropin (TSH) with normal levels of tetraiodothyronine (T4) and of 3,5,3'-triiodothyronine (T3) was confirmed in the serum of 78 trisomy 21 children. A severe deficiency of 3,3',5'-triiodo- thyronine (rT3 or reverse T3) was observed and the decrease of the rT3/TSH ratio was highly significant. These new facts suggest that the rT3 deficiency plays a peculiar role in trisomy 21 (maybe through the regulation of one or few steps of monocarbons' metabolism). A systematic control of thyroid function (including the patient's rT3 level) is mandatory for the follow-up of every trisomy 21 patient.
Address: Institut de Progenese, Centre Claude Bernard sur les Maladies del'Intelligence, Paris
Title: Thyroid function in young children with Down syndrome
Journal: Am J Dis Child Date of Pub: 1986 May
Author: Cutler AT; Benezra-Obeiter R; Brink SJ
Issue/Part/Supplement: 5 Volume: 140 Pagination: 479-83
Abstract: A retrospective review of thyroid function tests (TFTs) was performed on 49 young children (aged 4 months to 3 years) with Down syndrome compared with age-matched controls screened for hypothyroidism because of developmental delay or failure to thrive. Three of the 49 children with Down syndrome had congenital hypothyroidism; of the three, one had Hirschsprung's disease and two had duodenal atresia. Thyroiditis was uncommon, with only two children having thyroid antibodies present: one had acquired hypothyroidism and the other acquired hyperthyroidism. Twenty-seven percent of the Down syndrome cohort had mildly increased thyrotropin (TSH) and normal thyroxine levels. When compared with children with Down syndrome who had normal TFTs, no significant differences in sex, growth rate, maternal age, associated anomalies, developmental or specific thyroid symptoms were present. Transient elevations of TSH level were common in children with Down syndrome whether or not TSH values were initially normal or elevated. Routine neonatal and sequential thyroid screening in young children with Down syndrome is warranted.
Address:
Title: Thyroid dysfunction in Down syndrome
Journal: Am J Dis Child Date of Pub: 1985 Jun
Author: Pueschel SM; Pezzullo JC
Issue/Part/Supplement: 6 Volume: 139 Pagination: 636-9
Abstract: We investigated the thyroid function of 151 patients with Down syndrome. Compared with a control group of 89 siblings nearest in age to their brother or sister with Down syndrome, the mean thyroid-stimulating hormone (TSH) value was significantly higher in patients with Down syndrome than in subjects without Down syndrome. However, the mean thyroxine (T4) levels in both groups were nearly the same. In the Down syndrome group there was a trend for TSH values to increase and for T4 values to decrease with advancing age. Of the 151 patients with Down syndrome, ten had both significantly elevated TSH levels (greater than or equal to 9.5 microU/mL) and significantly decreased T4 levels (less than or equal to 5.5 micrograms/dL), 21 had only abnormally high TSH values, seven had only markedly increased T4 levels (greater than or equal to 12.0 micrograms/dL), and three had only significantly decreased T4 levels. The intellectual function of patients with both abnormal TSH and T4 levels was significantly lower (mean IQ, 41.7) than that of Down syndrome patients with only increased TSH values (mean IQ, 53.8) and that of Down syndrome patients with normal thyroid function (mean IQ, 55.3). This study provides further evidence that there is an increased prevalence of thyroid dysfunction in patients with Down syndrome.
Address:
Title: Abnormalities of thyroid function in infants with Down syndrome
Journal: J Pediatr Date of Pub: 1984 Apr
Author: Fort P; Lifshitz F; Bellisario R; Davis J; Lanes R; Pugliese M; Richman R; Post EM; David R
Issue/Part/Supplement: 4 Volume: 104 Pagination: 545-9
Abstract: We describe 12 of 1130 infants with Down syndrome in whom various degrees of thyroid dysfunction were detected by neonatal screening. These aberrations were confirmed subsequently in 11 patients. In eight of 11 children, persistent primary hypothyroidism, was diagnosed, whereas in the remaining three patients transient thyroid abnormalities were noted. The twelfth patient died and could not be retested. We found an incidence of persistent primary congenital hypothyroidism in infants with Down syndrome of 1:141, or about 28 times more than in the general population. The cause of thyroid aberrations in these infants remains unclear; none of the studied patients had agenesis or ectopia of the thyroid gland. On initial screening most infants with Down syndrome had only mild biochemical abnormalities, with gradual decompensation occurring thereafter. Infants with Down syndrome are therefore at high risk for congenital hypothyroidism and should have careful follow-up to prevent further deterioration of their mental development or growth.
Address:
Title: Studies on thyroid and hypophysary thyrotrophic hormone (TSH) in Down syndrome
Journal: Arq Neuropsiquiatr Date of Pub: 1977 Mar
Author: Schmidt BJ; Carvalho N; Krynski S; Ortega C; Liberman J; Kamei ME
Issue/Part/Supplement: 1 Volume: 35 Pagination: 1-5
Abstract: Serum TSH was studied in 22 patients with Down syndrome, from 4 to 15 years old. In 6 of these patients radioidine uptake by thyroid gland after 2 and 24 hours of administration and clearance rates before and after TSH stimulus (10 mul-IM) were measured. Results show that serum TSH was normal in 17 patients and above normal limits in 5 patients. Thyroid uptake after 2 hours as well clearance rates, both below normal, had a response to TSH stimulus with normal or below values. These data along with previous reports, suggest, that in children with Down syndrome, there is a thyroid dysfunction in which a slow response to TSH stimulus seems to be the basic defect.
Address: http://www.altonweb.com/cs/downsyndrome/thyroidab.html
Revised: January 10, 2000.