Given the variability in clinical presentation in all patients with RTH, it is difficult to classify patients as having purely PRTH or RTH, as some patients with the identical Tr beta mutation may present with either PRTH or RTH. [endocrinologyadvisor.com]

Thyroid autoantibodies are frequently present. TSH-R Ab are specific but anti-TPO and anti-TG may also be present. In clinical practice, anti-TPO is often measured, as measurement of TSH-R Ab is not readily available. [ocw.tufts.edu]

Newborns with congenital hyperthyroidism due to maternal Graves' disease seem to present significant transitory ocular manifestations more frequently, but again no infiltrative ophtalmopathy requiring specific therapy is present. [thieme-connect.com]

She may be euthyroid or even hypothyroid at present. On examination either the signs of thyrotoxicosis are present or the past stigmata of Grave's in form of ophthalmopathy or scar of thyroid surgery are present. [ijem.in]

[ edit ] The syndrome can present with variable symptoms, even between members of the same family harboring the same mutation. [1] Typically most or all tissues are resistant to thyroid hormone, so despite raised measures of serum thyroid hormone the [en.wikipedia.org]

• Goiter

  Toxic multinodular goiter Toxic multinodular goiter (Plummer disease) accounts for 15-20% of thyrotoxicosis cases (see the image below). It occurs more commonly in elderly individuals, especially those with a long-standing goiter. [emedicine.medscape.com]

  Orpha Number: 424 Disease definition Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism (see this term) characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, [rarediseases.info.nih.gov]

  And Lee, SL, "Toxic Nodular Goiter: Toxic Adenoma and Toxic Multinodular Goiter" in Endocrinology and Metabolism Clinics of North America, M. Kaplan (ed), 27(1998)151-168. [ocw.tufts.edu]

  Other chapters discuss such important topics as thyroid dysfunction during pregnancy and postpartum, thyroid disease in children and the elderly, the evaluation and management of nodular goiter, the worldwide problem of iodine deficiency and its eradication [books.google.com]

  […] in the neonatal period or nodular goiter later on. [karger.com]

• Euthyroid

  Loss-of-function mutations are responsible for rare forms of congenital hypothyroidism and euthyroid hyperthyrotropinemia. [journals.lww.com]

  Indeed, the mother of our patient remained euthyroid after menopause. [nejm.org]

  Their phenotype varies from euthyroid hyperthyrotropinemia (compound heterozygous) to severe congenital hypothyroidism (homozygous) with thyroid hypoplasia. [endocrine-abstracts.org]

  The mother may have been treated with 131 I or a subtotal thyroidectomy in the past and may be euthyroid or she may be receiving thyroid replacement therapy at the time of her pregnancy, but she still can be producing high titers of TSI. [neoreviews.aappublications.org]

  The involvement of the eyes is usually transitory in newborns as well as in children and adolescents and the symptoms usually disappear when euthyroidism is restored. [thieme-connect.com]

• Thyroid Nodule

  […] i VAR_011545 631 F → L in HTNA; gain of function; found in toxic thyroid nodules and hyperfunctioning thyroid adenomas. 1 Natural variant i VAR_011546 632 T → A in HTNA; found in toxic thyroid nodules and hyperfunctioning non-adenomatous nodules. 1 Natural [uniprot.org]

  39 THE THYROID NODULE 374 HORMONE ERNEST L MAZZAFERRI 402 THYROID HORMONE RESISTANCE KENNETH D BURMAN 428 THYROID FUNCTION TESTS 329 and LEONARD WARTOFSKY 440 THYROID SONOGRAPHY COMPUTED and MARTIN 1 SURKS 454 ABNORMAL THYROID FUNCTION TEST 47 THYROID [books.google.com]

  TSHR mutations are found in autonomously functioning thyroid nodules (AFTN), toxic multinodular goiter (TMNG) and hyperfunctioning thyroid adenomas (HTA). [genecards.org]

  Gain-of-function mutations cause toxic thyroid nodules and autosomal dominantly inherited nonautoimmune hyperthyroidism. Loss-of-function mutations are responsible for rare forms of congenital hypothyroidism and euthyroid hyperthyrotropinemia. [journals.lww.com]

  Moreover, mutations L677V and T620I identified in hot thyroid carcinomas and previously characterized in CHO and in 3T3-Vill cell lines, respectively, F666L identified in a patient with hot thyroid nodules, I691F in a family with nonautoimmune hyperthyroidism [endocrine-abstracts.org]

• Asymptomatic

  First, all index patients should be analysed for the presence/absence of a thyroid-stimulating hormone (TSH) receptor (TSHR) germline mutation, and if they display a TSHR germline mutation, all other family members including asymptomatic and euthyroid [karger.com]

  Most patients are euthyroid and asymptomatic, with a normal sized thyroid gland. Only a subset of patients develop hypothyroidism and present a hypoplastic thyroid gland. [genecards.org]

  The patient is asymptomatic and physical examination was unremarkable except for presence of a barely palpable thyroid gland and a pulse of 105. No tremor was demonstrated. There was no exophthalmos or pretibial myxedema. [endotext.org]

  Screening Routine TFT screen in an asymptomatic subject is controversial [16] though this was proposed by the American Thyroid Association in 2000 [17]. [austinpublishinggroup.com]

  The advent of the sensitive TSH assay allows for the diagnosis of subclinical disease in asymptomatic patients. The results of the TSH assay will determine which further investigations will need to be performed. [patient.info]

• Myxedema

  Typical features of Graves disease such as exophthalmia, myxedema, antibodies anti-TSH receptor and lymphocytic infiltration of the thyroid gland are absent. [genecards.org]

  There was no exophthalmos or pretibial myxedema. At that time she was referred to an endocrinlogist who suggested instituting PTU tx. [endotext.org]

  Pretibial myxedema: pathophysiology and treatment options. Am J Clin Dermatol 6: 295‐309, 2005. 29. Fatourechi V. Thyroid dermopathy and acropachy. Best Pract Res Clin Endocrinol Metab 26: 553‐565, 2012. 30. [comprehensivephysiology.com]

  These patients may be depressed, appear apathetic and may even be diagnosed as having myxedema (hypothyroidism). The most common cause of thyrotoxicosis in this population is a toxic multinodular goiter with mild thyrotoxicosis. [ocw.tufts.edu]

  Typical features of Graves disease such as exophthalmia, myxedema, antibodies anti-TSH receptor and lymphocytic infiltration of the thyroid gland are absent. Belongs to the G-protein coupled receptor 1 family. [mybiosource.com]

• Vomiting

  She has had intermittent vomiting which would not be described as hyperemesis. Note, during her first two uneventful pregnancies no vomiting was experienced. [endotext.org]

  This was her third pregnancy, the first and second having resulted in early miscarriage accompanied by severe nausea and vomiting. She again reported severe nausea and vomiting and had recently lost 5 kg in weight. [nejm.org]

  Clinically presentation occurs with high fever, tachycardia, delirium, psychosis, restlessness, prostration, nausea, vomiting, and abdominal pain. Apathy, stupor and coma may occur. [ocw.tufts.edu]

• Nausea

  This was her third pregnancy, the first and second having resulted in early miscarriage accompanied by severe nausea and vomiting. She again reported severe nausea and vomiting and had recently lost 5 kg in weight. [nejm.org]

  Clinically presentation occurs with high fever, tachycardia, delirium, psychosis, restlessness, prostration, nausea, vomiting, and abdominal pain. Apathy, stupor and coma may occur. [ocw.tufts.edu]

• Jaundice

  Thyroid, 10th Edition, 2012 ) Diagrams / tables Images hosted on other servers: Pedigree of families with thyroid dysgenesis PAX8 mutation in thyroid hypoplasia Clinical features Athyreosis and severe hypoplasia manifest as congenital hypothyroidism: Jaundice [pathologyoutlines.com]

  Other features of neonatal hyperthyroidism like jaundice, hepatosplenomegaly, thrombocytopenia [ 41 ] and respiratory symptoms (such as apnea and asphyxia) [ 41, 45, 46, 47 ] were also observed in some patients. [karger.com]

• Irritability

  The central nervous system signs are irritability restlessness, jitteriness and restlessness. Eye signs are periorbital edema, lid retraction and exophthalmos. [ijem.in]

• Confusion

  Occasionally the antibodies get confused and attack the body’s own tissues, causing autoimmune disease. [thyroid.org]

[…] athyreosis should be differentiated from severe hypoplasia and ectopic thyroid either clinically (by scintiscan) or postmortem Thyroid dysgenesis is often being a part of complex syndrome with extrathyroid comorbidities, which needs further diagnostic workup [pathologyoutlines.com]

• Lymphocytic Infiltrate

  Typical features of Graves disease such as exophthalmia, myxedema, antibodies anti-TSH receptor and lymphocytic infiltration of the thyroid gland are absent. [genecards.org]

  Typical features of Graves disease such as exophthalmia, myxedema, antibodies anti-TSH receptor and lymphocytic infiltration of the thyroid gland are absent. Belongs to the G-protein coupled receptor 1 family. [mybiosource.com]

More Symptoms of Familial hyperthyroidism due to mutations in TSH receptor » Diagnosis See also related information on diagnosis: Diagnosis of Hyperthyroidism Treatments See also the following treatment articles: Treatments for Hyperthyroidism Causes [familydiagnosis.com]

Make the best clinical decisions with an enhanced emphasis on evidence-based practice and expert opinions on treatment strategies. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography. [books.google.com]

Patients receiving amiodarone (pre-treatment, then every six months until off treatment for a year) or lithium (pre-treatment, every six to twelve months whilst on treatment). Following neck irradiation (annual TFTs). [patient.info]

Thyroid cancer represents 6% of new cancer cases in women, and 60% of affected individuals are under age 55.1 Although most thyroid cancers are the well-differentiated, papillary, or follicular subtypes that carry a good prognosis, papillary thyroid cancers [targetedonc.com]

Differentiated Thyroid Cancer (DTC) has a relatively favourable prognosis if treated and monitored properly. The clinical use of thyroid testing in a general practice has increased by 50% over the last decade [5]. [austinpublishinggroup.com]

[…] avoid the negative consequences of persistent or relapsing hyperthyroidism. (2) Immediate treatment of overt neonatal hyperthyroidism with methimazole (not propylthiouracil because of its association with severe liver injury) is recommended for a good prognosis [karger.com]

One recurrent tentation when dealing with pathogenic mutation in human disease, is to try to correlate genotype and phenotype, with the hope there could be a kind of genetic prognosis following the genetic diagnosis. [em-consulte.com]

The etiology of persistent neonatal hyperthyroidism was clarified by the discovery of an activating germ-line mutation in the thyroid-stimulating hormone (TSH) receptor in 1995. [neoreviews.aappublications.org]

Multiple etiologies can lead to a common clinical state of “thyrotoxicosis,” which is a consequence of the high thyroid hormone levels and their action on different tissues of the body. [comprehensivephysiology.com]

Note=Defects in TSHR are found in patients affected by hyperthyroidism with different etiologies. [genecards.org]

For reasons that remain somewhat unclear, but are presumably related to the etiology of hyperemesis in this setting, beta-blocking agents rapidly improve the symptoms and signs. [endotext.org]

Hashimoto K, 1998 The etiology of isolated thyroid stimulating hormone deficiency. Intern Med 37: 231-232. 2. Shuman CR, 1953 Hypothyroidism due to thyrotropin deficiency without other manifestations of hypopituitarism. [hormones.gr]

[…] hyperthyroidism - Resistance to thyroid stimulating hormone Classification (Orphanet): - Rare circulatory system disease - Rare endocrine disease - Rare genetic disease - Rare renal disease Classification (ICD10): - Endocrine, nutritional and metabolic diseases - Epidemiological [csbg.cnb.csic.es]

Genatlas disease for TSHR Gene hypothyroidism,congenital,with high TSH,TSH unresponsiveness (TSHR defect in few cases),including thyroid hypoplasia Relevant External Links for TSHR Genetic Association Database (GAD) TSHR Human Genome Epidemiology (HuGE [genecards.org]

Epidemiology/Pathophysiology Graves' disease is the most common form of hyperthyroidism accounting for 60-70% of all cases. It occurs in up to 3% of the population. [ocw.tufts.edu]

[…] dysgenesis (dysthyroidosis, thyroid dysgenetic disorder) is a collective term for various anomalies in the anatomic development of the thyroid, including thyroid gland proper abnormalities (agenesis, hemiagenesis and hypoplasia) and ectopic thyroid tissue Epidemiology [pathologyoutlines.com]

Iodine‐induced hyperthyroidism: Occurrence and epidemiology. Thyroid 8: 83‐100, 1998. 86. Sundaraiya S, Dizdarevic S, Miles K, Quin J, Williams A, Wheatley T, Zammitt C. [comprehensivephysiology.com]

Epidemiology/Pathophysiology Graves' disease is the most common form of hyperthyroidism accounting for 60-70% of all cases. It occurs in up to 3% of the population. [ocw.tufts.edu]

Thyroid stimulating hormone receptor (TSHR) and its endogenous ligand thyroid stimulating hormone (TSH) are pivotal factors in physiologic function and pathophysiology of benign and malignant thyroid diseases. [targetedonc.com]

[…] show absence of the left lobe with a left:right ratio of 4:1 ( J Clin Endocrinol Metab 1981;52:247 ) Thyroid hemiagenesis has several variations: absent lobe, absent lobe and isthmus, absent isthmus, absent both lateral lobes with remaining isthmus Pathophysiology [pathologyoutlines.com]

[…] iodine-sufficient country with low prevalence of toxic adenomas. 54 In some patients with multinodular goiter and two zones of autonomy at scintigraphy, a different mutation of the TSH receptor was identified in each nodule. 55 – 58 This finding indicates that the pathophysiologic [clinicalgate.com]

The pathophysiologic mechanism is believed to be promiscuous stimulation of the thyrotropin receptor by the excess chorionic gonadotropin. 4,5 The explanation for this stimulation is the close structural relations between chorionic gonadotropin and thyrotropin [nejm.org]

[…] in a term newborn suggests hypothyroidism of prenatal onset ( Braverman, Cooper: Werner & Ingbar's The Thyroid, 10th Edition, 2012 ) Prognostic factors Early diagnosis and treatment (not later than 3 months of age) of hypothyroidism are critical to prevent [pathologyoutlines.com]

The outlook for this preventable cause of growth restriction and intellectual disability has been transformed by newborn screening. [ 21 ] [patient.info]

This is not a purely academic problem, in that presymptomatic diagnosis in children of affected families may prevent the developmental or psychological complications associated with infantile or juvenile hyperthyroidism. [clinicalgate.com]

Thionamides Thionamides (propylthiouracil [PTU] and methimazole) inhibit thyroid hormone synthesis through inhibition of thyroidal peroxidase, prevention of oxidation of trapped iodine, inhibition of coupling of iodotyrosines, inhibition of conversion [ocw.tufts.edu]

Maternal TSI > 350-500% ( n < 125%) and maternal TBII > 40-70% ( n < 10-15%) before delivery have successfully predicted neonatal thyrotoxicosis., [17] Treatment is effective in controlling fetal thyrotoxicosis and preventing fetal death. [ijem.in]