Thyroid function in patients with Prader-Willi syndrome: an Italian multicenter study of 339 patients

AbstractBackgroundPrader-Willi syndrome (PWS) is a genetic disorder due to loss of expression of paternally transcribed genes of the imprinted region of chromosome 15q11-13. PWS is characterized by peculiar signs and symptoms and many endocrine abnormalities have been described (growth hormone deficiency, hypogonadotropic hypogonadism). The abnormalities of thyroid function are discussed in literature and published data are discordant. The aim of our study was to report the thyroid function in patients with PWS to identify the prevalence of thyroid dysfunction.MethodsThyroid function tests were carried out in 339 patients with PWS, aged from 0.2 to 50 years. A database was created to collect personal data, anthropometric data, thyroid function data and possible replacement therapy with L-thyroxine. Subjects were classified according to thyroid function as: euthyroidism (EuT), congenital hypothyroidism (C-HT), hypothyroidism (HT – high thyroid-stimulating hormone [TSH] and low free thyroxine [fT4]), central hypothyroidism (CE-H – low/normal TSH and low fT4), subclinical hypothyroidism (SH – high TSH and normal fT4), and hyperthyroidism (HyperT – low TSH and high fT4).ResultsTwo hundred and forty-three out of 339 PWS patients were younger than 18 years (71.7%). The prevalence of thyroid dysfunction was 13.6%. Specifically, C-HT was found in four children (1.18%), HT in six patients (1.77%), CE-H in 23 patients (6.78%), SH in 13 patients (3.83%), and HyperT in none. All other subjects were in EuT (86.4%).ConclusionsHypothyroidism is a frequent feature in subjects with PWS. Thyroid function should be regularly investigated in all PWS patients both at the diagnosis and annually during follow-up.

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Management of thyroid disease in pregnancy – Room for improvement in the first trimester

Obstetric Medicine ◽

10.1177/1753495x16629773 ◽

2016 ◽

Vol 9 (3) ◽

pp. 126-129 ◽

Cited By ~ 1

Author(s):

Helen Robinson ◽

Philip Robinson ◽

Michael D’Emden ◽

Kassam Mahomed

Keyword(s):

General Practitioner ◽

Thyroid Function ◽

Thyroid Disease ◽

Thyroid Dysfunction ◽

First Trimester ◽

Antenatal Clinic ◽

Thyroid Stimulating Hormone ◽

Thyroid Function Tests ◽

In Pregnancy ◽

Stimulating Hormone

Background First-trimester care of maternal thyroid dysfunction has previously been shown to be poor. This study evaluates early management of thyroid dysfunction in pregnancy in Australia. Methods Patients reviewed by the Obstetric Medicine team for thyroid dysfunction from 1 January 2012 to 30 June 2013 were included. Data were collected on gestation at referral from the patient’s general practitioner to the antenatal clinic, information provided in the referral letter, thyroid function tests and thyroid medications. Results Eighty-five women were included in the study. At the time of general practitioner referral to antenatal services, 19% of women with preexisting thyroid disease had no thyroid function tested. Forty-three percent had an abnormal thyroid-stimulating hormone defined as being outside the laboratory-specific pregnancy reference range if available, or outside the level of 0.1–2.5 mIu/L in the first trimester, 0.2–3.0 mIu/L in the second trimester and 0.3–3.0 mIu/L in the third trimester. Only 21% of women increased their thyroxine dose prior to their first antenatal clinic review. Conclusion This study highlights that a significant proportion of women with known thyroid disease either have untested thyroid function in the first trimester or a thyroid-stimulating hormone outside of levels recommended by guidelines.

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THYROID FUNCTION TESTS: A REVIEW

10.36106/ijsr/2502260 ◽

2021 ◽

pp. 73-76

Author(s):

Vasudev Sankhla ◽

Aman Deep

Keyword(s):

Thyroid Function ◽

Thyroid Dysfunction ◽

Radioactive Iodine ◽

Thyroid Stimulating Hormone ◽

Thyroid Function Tests ◽

Function Tests ◽

Tsh Secretion ◽

Line Test ◽

Radioactive Iodine Uptake

Thyroid function tests are one of the most common endocrine panels in general practice because a good understanding of when to order them, indications for treatment are important for the optimal treatment of thyroid dysfunction. Thyroid-stimulating hormone (TSH) should be the rst test to be performed on any patient with suspected thyroid dysfunction and in follow-up of individuals on treatment. It is useful as a rst-line test because even small changes in thyroid function are sufcient to cause a signicant increase in TSH secretion. Thyroxine levels may be assessed in a patient with hyperthyroidism, to determine the severity of hyperthyroxinemia. Antithyroid peroxidase measurements should be considered while evaluating patients with subclinical hypothyroidism and can facilitate the identication of autoimmune thyroiditis during the evaluation of nodular thyroid disease. The measurement of TSH receptor antibody must be considered when conrmation of Graves’ disease is needed and radioactive iodine uptake cannot be done.

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Thyroid dysfunction in preeclampsia and related fetomaternal outcomes

International Journal of Reproduction Contraception Obstetrics and Gynecology ◽

10.18203/2320-1770.ijrcog20191944 ◽

2019 ◽

Vol 8 (5) ◽

pp. 1928

Author(s):

Puja Banik ◽

R. K. Praneshwari Devi ◽

Aheibam Bidya ◽

Akoijam Tamphasana ◽

M. Agalya ◽

...

Keyword(s):

Thyroid Function ◽

Thyroid Dysfunction ◽

Birth Asphyxia ◽

Normal Pregnancy ◽

Thyroid Stimulating Hormone ◽

Severe Preeclampsia ◽

Intrauterine Fetal Death ◽

Overt Hypothyroidism ◽

Thyroid Function Tests ◽

Cross Sectional

Background: Changes in thyroid function in normal pregnancy are well-documented but in complicated pregnancy like preeclampsia, very little is known. Studies have shown evidences of hypothyroidism in preeclampsia necessitating thyroid function tests to be done in preeclampsia. The study was done to analyze the fetomaternal outcome of preeclampsia with coexisting thyroid dysfunction.Methods: A cross-sectional analytical study was done over 18 months on 95 preeclamptic patients admitted at the antenatal ward and fetomaternal outcomes were analyzed according to thyroid status.Results: Out of 95 patients with preeclampsia, 42 (44.2%) had thyroid dysfunction. Among these 42 patients, 37 (38.9%) patients had subclinical hypothyroidism, 4 (4.2%) had overt hypothyroidism and 1 (1%) had hyperthyroidism. Severe preeclampsia was seen in 64.3% of the patients with thyroid dysfunction compared with 39.6% in euthyroid patients. The mean thyroid stimulating hormone (TSH) level was significantly higher and means free thyroxine (fT4) level was significantly lower in severe preeclampsia compared with non-severe preeclampsia. Complications like abruption, intrauterine fetal death (IUD), intrauterine growth restriction (IUGR), oligohydramnios, preterm deliveries, postpartum hemorrhage (PPH), low birth weight babies, birth asphyxia in babies and subsequent neonatal intensive care unit (NICU) admissions were significantly higher (p <0.05) in the preeclampsia patients with thyroid dysfunction in comparison with euthyroid ones.Conclusions: Hypothyroidism may be a modifiable risk factor for preeclampsia. Thyroid screening early in pregnancy may be helpful in predicting the occurrence of preeclampsia and timely thyroid hormone administration can reduce the maternal and perinatal morbidity and mortality associated with preeclampsia.

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Relationship between Different Psoriasis Types and Thyroid Dysfunction: A Retrospective Analysis

Scanning ◽

10.1155/2021/1834556 ◽

2021 ◽

Vol 2021 ◽

pp. 1-5

Author(s):

Juan Du ◽

Chunyue Ma ◽

Runnan Wang ◽

Lanmei Lin ◽

Luhui Gao ◽

...

Keyword(s):

Psoriatic Arthritis ◽

Thyroid Function ◽

Thyroid Dysfunction ◽

Thyroid Stimulating Hormone ◽

Thyroid Peroxidase ◽

Thyroid Function Tests ◽

Free Triiodothyronine ◽

Hormone Levels ◽

Significant Difference ◽

Total Thyroxine

Objective. The aim of this study was to investigate the relationship between different psoriasis types and thyroid dysfunction. Methods. The data of patients diagnosed with psoriasis between January 2013 and October 2018 who underwent thyroid function tests were collected. Free triiodothyronine (FT3), free thyroxine (FT4), total triiodothyronine (TT3), total thyroxine (TT4), thyroid-stimulating hormone (TSH), thyroglobulin antibody (TGAb), and thyroid peroxidase antibody (TPOAb) were measured. The thyroid function of patients with psoriasis vulgaris, pustular psoriasis, erythrodermic psoriasis, and psoriatic arthritis was evaluated, and the differences in hormone levels and antibodies in the pituitary-thyroid axis with psoriasis type were analyzed. Results. The data of a total of 468 patients were analyzed in this study. The proportion of normal hormone levels was higher among vulgaris patients ( P < 0.001 ), while the erythrodermic patients were more likely to have decreased FT3 or FT4 but normal TSH ( P < 0.001 ). FT3 levels were lower in pustular patients ( P < 0.05 ), FT4 levels were lower in erythrodermic patients ( P < 0.05 ), and TSH levels were higher in patients with psoriatic arthritis ( P < 0.05 ). TPOAb levels were higher than normal in all patients, but there was no significant difference in the levels of TPOAb and TGAb among 4 types of the patients. Conclusion. Psoriasis is related to thyroid dysfunction, especially in patients with atypical psoriasis types. The possibility of complications should be considered in erythrodermic patients.

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THYROID DYSFUNCTION, RECOVERY, AND PROGNOSIS IN MELANOMA PATIENTS TREATED WITH IMMUNE CHECKPOINT INHIBITORS: A RETROSPECTIVE REVIEW

Endocrine Practice ◽

10.4158/ep-2019-0244 ◽

2020 ◽

Vol 26 (1) ◽

pp. 36-42 ◽

Cited By ~ 5

Author(s):

Mazen Al Mushref ◽

Paul A. Guido ◽

Frances A. Collichio ◽

Dominic T. Moore ◽

David R. Clemmons

Keyword(s):

Thyroid Function ◽

Immune Checkpoint ◽

Immune Checkpoint Inhibitors ◽

Thyroid Dysfunction ◽

Checkpoint Inhibitors ◽

Thyroid Stimulating Hormone ◽

Thyroid Function Tests ◽

Melanoma Patients ◽

Recovery Group ◽

Stimulating Hormone

Objective: To describe thyroid dysfunction, factors associated with thyroid recovery, and survival in melanoma patients treated with immune checkpoint inhibitors that developed thyroid immune-related adverse events (irAEs). Methods: This was a retrospective study in a tertiary center from 2010–2017. We reviewed the charts of patients with melanoma that developed thyroid dysfunction after checkpoint inhibitor therapy. Cases with thyroid irAEs were grouped by recovery of thyroid function at 1 year. We collected a timeline of thyroid function tests, medication exposure, and survival and compared variables between the groups. We studied survival in comparison to a matched group without thyroid dysfunction. Results: A total of 186 melanoma patients received checkpoint inhibitors, and 17 (9%) had thyroid irAEs. Median time to abnormal thyroid-stimulating hormone was 38 days and followed a pattern of thyroiditis. Seven of 17 had thyroid recovery. In the no-recovery group, free thyroxine (T4) was often above 2 ng/dL (5/10 in no recovery, 0/7 in recovery; P = .04). In the recovery group, irAE grade was significantly lower, with 7/7 grade 1 ( P = .004). Exposure to glucocorticoids was associated with recovery (3/10 in no recovery, 6/7 in recovery; P = .049). There was no difference in overall survival between the thyroid dysfunction group and controls, or between those that received glucocorticoids or not. Conclusion: Certain aspects of thyroid irAEs may correlate with thyroid recovery, including grade 1 thyroid irAEs, exposure to glucocorticoids, and peak free T4 levels less than 2 ng/dL. Thyroid irAEs did not appear to be associated with change in survival nor did exposure to glucocorticoids. Abbreviations: ASCO = American Society of Clinical Oncology; CTLA-4 = cytotoxic T-lymphocyte–associated protein 4; irAE = immune-related adverse event; PD-1 = programmed cell death protein 1; T4 = thyroxine; TSH = thyroid-stimulating hormone

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Thyroid Function during Pregnancy

Clinical Chemistry ◽

10.1093/clinchem/45.12.2250 ◽

1999 ◽

Vol 45 (12) ◽

pp. 2250-2258 ◽

Cited By ~ 84

Author(s):

Corinne R Fantz ◽

Samuel Dagogo-Jack ◽

Jack H Ladenson ◽

Ann M Gronowski

Keyword(s):

Thyroid Function ◽

Thyroid Dysfunction ◽

Hyperemesis Gravidarum ◽

Pregnant Patient ◽

Reference Interval ◽

Thyroid Stimulating Hormone ◽

Case Conference ◽

Thyroid Function Tests ◽

Thyroid Activity ◽

Serum Thyroglobulin

Abstract Background: This Case Conference reviews the normal changes in thyroid activity that occur during pregnancy and the proper use of laboratory tests for the diagnosis of thyroid dysfunction in the pregnant patient. Case: A woman in the 18th week of pregnancy presented with tachycardia, increased blood pressure, severe vomiting, increased total and free thyroid hormone concentrations, a thyroid-stimulating hormone (TSH) concentration within the reference interval, and an increased human chorionic gonadotropin (hCG) β-subunit concentration. Issues: During pregnancy, normal thyroid activity undergoes significant changes, including a two- to threefold increase in thyroxine-binding globulin concentrations, a 30–100% increase in total triiodothyronine and thyroxine concentrations, increased serum thyroglobulin, and increased renal iodide clearance. Furthermore, hCG has mild thyroid stimulating activity. Pregnancy produces an overall increase in thyroid activity, which allows the healthy individual to remain in a net euthyroid state. However, both hyper- and hypothyroidism can occur in pregnant patients. In addition, two pregnancy-specific conditions, hyperemesis gravidarum and gestational trophoblastic disease, can lead to clinical hyperthyroidism. The normal changes in thyroid activity and the association of pregnancy with conditions that can cause hyperthyroidism necessitates careful interpretation of thyroid function tests during pregnancy. Conclusion: Assessment of thyroid function during pregnancy should be done with a careful clinical evaluation of the patient’s symptoms as well as measurement of TSH and free, not total, thyroid hormones. Measurement of thyroid autoantibodies may also be useful in selected cases to detect maternal Graves disease or Hashimoto thyroiditis and to assess risk of fetal or neonatal consequences of maternal thyroid dysfunction.

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Stability of thyroid function in older adults: the Birmingham Elderly Thyroid Study

British Journal of General Practice ◽

10.3399/bjgp18x698861 ◽

2018 ◽

Vol 68 (675) ◽

pp. e718-e726 ◽

Cited By ~ 6

Author(s):

Lesley Roberts ◽

Deborah McCahon ◽

Oliver Johnson ◽

M Sayeed Haque ◽

James Parle ◽

...

Keyword(s):

Thyroid Function ◽

Thyroid Dysfunction ◽

Cost Savings ◽

Thyroid Stimulating Hormone ◽

Overt Hypothyroidism ◽

Thyroid Function Tests ◽

Older Individuals ◽

Original Result ◽

Over Time

BackgroundThyroid function tests (TFTs) are among the most requested tests internationally. However, testing practice is inconsistent, and potentially suboptimal and overly costly. The natural history of thyroid function remains poorly understood.AimTo establish the stability of thyroid function over time, and identify predictors of development of overt thyroid dysfunction.Design and settingLongitudinal follow-up in 19 general practices in the UK.MethodA total of 2936 participants from the Birmingham Elderly Thyroid Study (BETS 1) with a baseline TFT result indicating euthyroid or subclinical state were re-tested after approximately 5 years. Change in thyroid-stimulating hormone (TSH), free thyroxine (FT4), and thyroid status between baseline and follow-up was determined. Predictors of progression to overt dysfunction were modelled.ResultsParticipants contributed 12 919 person-years; 17 cases of overt thyroid dysfunction were identified, 13 having been classified at baseline as euthyroid and four as having subclinical thyroid dysfunction. Individuals with subclinical results at baseline were 10- and 16-fold more likely to develop overt hypothyroidism and hyperthyroidism, respectively, compared with euthyroid individuals. TSH and FT4 demonstrated significant stability over time, with 61% of participants having a repeat TSH concentration within 0.5 mIU/L of their original result. Predictors of overt hypothyroidism included new treatment with amiodarone (odds ratio [OR] 92.1), a new diagnosis of atrial fibrillation (OR 7.4), or renal disease (OR 4.8).ConclusionHigh stability of thyroid function demonstrated over the 5-year interval period should discourage repeat testing, especially when a euthyroid result is in the recent clinical record. Reduced repeat TFTs in older individuals is possible without conferring risk, and could result in significant cost savings.

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Detecting Congenital Central Hypothyroidism by Newborn Screening: Difficulty in Distinguishing from Congenital Thyroxine-Binding Globulin Deficiency

Hormone Research in Paediatrics ◽

10.1159/000479367 ◽

2017 ◽

Vol 88 (5) ◽

pp. 331-338 ◽

Cited By ~ 7

Author(s):

Kara J. Connelly ◽

Melinda J. Pierce ◽

Cheryl Hanna ◽

Stephen H. LaFranchi

Keyword(s):

Newborn Screening ◽

Thyroid Function ◽

Thyroid Stimulating Hormone ◽

Pituitary Hormone ◽

Thyroid Function Tests ◽

Free T4 ◽

Central Hypothyroidism ◽

Serum Free ◽

Thyroxine Binding Globulin ◽

Healthy Infants

Background/Aims: Congenital central hypothyroidism (CH-C) can be detected on newborn screening (NBS) by programs using thyroxine (T4)-reflex thyroid-stimulating hormone (TSH) test approach. CH-C must be distinguished from T4-binding globulin (TBG) deficiency. We sought to determine whether thyroid function tests reliably separate CH-C from TBG deficiency. Methods: We analyzed NBS and serum free and total T4, T3 resin uptake (T3RU) or TBG, and TSH for infants in the Northwest Regional NBS Program (NWRSP) between the years 2008 and 2015 with either CH-C or TBG deficiency. Results: We discovered a significant overlap in T3RU and TBG levels amongst 21 cases of CH-C and 250 cases of TBG deficiency. Mean serum TBG levels were lower in CH-C cases (20.3 µg/mL, range 14.2–33.3) than what is reported in healthy infants (28.6 µg/mL, range 19.1–44.6). Serum free T4 was lower in CH-C cases than TBG deficiency but did not always differentiate between the two conditions. Conclusion: CH-C benefits from detection on NBS but must be distinguished from TBG deficiency. The diagnosis of CH-C rests solely on subnormal serum free T4, but is supported by the demonstration of other pituitary hormone deficiencies. As an overlap exists, serum TBG (or T3RU) levels do not play a role in the diagnosis of CH-C.

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Endocrine Dysfunction in Prader-Willi Syndrome: A Review with Special Reference to GH

Endocrine Reviews ◽

10.1210/edrv.22.6.0447 ◽

2001 ◽

Vol 22 (6) ◽

pp. 787-799 ◽

Cited By ~ 167

Author(s):

Pia Burman ◽

E. Martin Ritzén ◽

Ann Christin Lindgren

Keyword(s):

Replacement Therapy ◽

Lean Body Mass ◽

Body Mass ◽

Genetic Disorder ◽

Hormone Replacement ◽

Hypogonadotropic Hypogonadism ◽

Endocrine Disorders ◽

Prader Willi Syndrome ◽

Gh Treatment ◽

Pituitary Dysfunction

Abstract Prader-Willi syndrome is a genetic disorder occurring in 1 in 10,000–16,000 live-born infants. In the general population, approximately 60 people in every 1,000,000 are affected. The condition is characterized by short stature, low lean body mass, muscular hypotonia, mental retardation, behavioral abnormalities, dysmorphic features, and excessive appetite with progressive obesity. Furthermore, morbidity and mortality are high, probably as a result of gross obesity. Most patients have reduced GH secretory capacity and hypogonadotropic hypogonadism, suggesting hypothalamic-pituitary dysfunction. Replacement of GH and/or sex hormones may therefore be beneficial in Prader-Willi syndrome, and several clinical trials have now evaluated GH replacement therapy in affected children. Results of GH treatment have been encouraging: improved growth, increased lean body mass, and reduced fat mass. There was also some evidence of improvements in respiratory function and physical activity. The long-term benefits of GH treatment are, however, still to be established. Similarly, the role of sex hormone replacement therapy needs to be clarified as few data exist on its efficacy and potential benefits. In summary, Prader-Willi syndrome is a disabling condition associated with GH deficiency and hypogonadism. More active treatment of these endocrine disorders is likely to benefit affected individuals.

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The Characteristics of Children with Abnormalities Detected in Thyroid Function Tests, and Distribution of Diagnoses

Journal of Dr Behcet Uz Children s Hospital ◽

10.5222/buchd.2020.57704 ◽

2020 ◽

Author(s):

Elif Çelik ◽

Ayşe Anık

Keyword(s):

Thyroid Function ◽

Thyroid Disease ◽

Correct Diagnosis ◽

Thyroid Function Test ◽

Hashimoto Thyroiditis ◽

Thyroid Stimulating Hormone ◽

Thyroid Function Tests ◽

Test Results ◽

Function Tests ◽

Function Test

INTRODUCTION: Thyroid function tests are among the most frequently implemented laboratory tests in primary, and secondary healthcare institutions. The aim of the present study was to investigate the demographic and clinical characteristics and final diagnosis of children referred by primary and secondary healthcare institutions with the suspicion of an abnormality in thyroid function test and/or with the initial diagnosis of specific thyroid disease. METHODS: A total of two hundred eighty-nine pediatric patients, aged between 4 and 18 years admitted to the outpatient clinics of Behçet Uz Children’s Health and Diseases Hospital between January 2018 and January 2020, were included in the study. The patient data were obtained retrospectively from the hospital records. RESULTS: A total of 66% of the patients who were included in the study were female with a median age of 12 years (8.7-14.4), while 64% of them were pubertal; and 78% of the cases were referred by secondary healthcare institutions. The most common reason for referral was isolated elevation of thyroid stimulating hormone (TSH). A total of 56% of the patients were asymptomatic at the time of admission, and thyroid function test results of 75% of them were within normal limits. When evaluated according to their final diagnoses, the children were normal/healthy (64%), diagnosed with Hashimoto thyroiditis (30%), nodular thyroid disease (3%), Graves disease (2%) and isolated increase of TSH was related to obesity in 5 patients (1%). DISCUSSION AND CONCLUSION: It is essential to evaluate children with abnormal thyroid function test results with detailed history and physical examination. Besides, the thyroid function tests should be performed with reliable and sensitive methods in standardized laboratories to reach the correct diagnosis in these children.

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