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Congenital Non-Goitrous Hypothyroidism Type 1

RTSH


Presentation

  • CHNG1 presents with a range of severity: most patients are euthyroid and asymptomatic, with a thyroid gland of normal size, while a subset of patients develop hypothyroidism and have a hypoplastic thyroid gland.[medical-dictionary.thefreedictionary.com]
  • A rationalisation of the 1350 boxes used throughout the book gives a simpler and clearer presentation of the various categories.[books.google.de]
  • Family history of hypothyroidism or goiter is present in 20% of cases. Lack of circulating thyroid hormone activates TSH secretion, which causes overstimulation and hyperplasia of defective thyroid gland.[pathologyoutlines.com]
  • It presents variable severity depending on the completeness of the defect. 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.[uniprot.org]
  • It presents with a range of severity: most patients are euthyroid and asymptomatic with a normal sized thyroid gland; a subset of patients develop hypothyroidism and present with a hypoplastic thyroid.[newmedicalterms.com]
Euthyroid
  • CHNG1 presents with a range of severity: most patients are euthyroid and asymptomatic, with a thyroid gland of normal size, while a subset of patients develop hypothyroidism and have a hypoplastic thyroid gland.[medical-dictionary.thefreedictionary.com]
  • Among the patients with TSHR mutations, there is a spectrum of clinical severity, such that some subjects can be: Fully compensated and are euthyroid with elevated TSH (euthyroid hyperthyrotropinemia); Partially compensated where the TSH elevation cannot[endocrinologyadvisor.com]
  • We report a prenatally diagnosed case of fetal goiter in a euthyroid mother, and review crucial points in the management of fetal thyroid disease.[e-kjp.org]
  • 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.[uniprot.org]
  • It presents with a range of severity: most patients are euthyroid and asymptomatic with a normal sized thyroid gland; a subset of patients develop hypothyroidism and present with a hypoplastic thyroid.[newmedicalterms.com]
Fatigue
  • Common signs and symptoms of hypothyroidism include fatigue; weakness; weight gain; coarse, dry hair; dry, rough, pale skin; hair loss; intolerance to the cold; muscle cramps; constipation; depression; irritability; memory loss; abnormal menstrual cycles[fortherecordmag.com]
  • With early onset of the disease signs may be indistinct and go undetected such as general fatigue, slight weight gain from fluid retention and decreased metabolism, dry skin, or cold sensitivity.[physio-pedia.com]
  • Both chronically high blood glucose and hyperthyroidism can cause weight loss despite good appetite, weakness, and fatigue.[diabetesselfmanagement.com]
  • At first, you may notice general symptoms including: fatigue lethargy sensitivity to cold depression muscle weakness Because the thyroid hormones control the metabolism of all your cells, you might also gain weight.[healthline.com]
  • A child with an underactive thyroid may experience fatigue, weight gain, constipation, decreased growth, and a host of other issues.[chop.edu]
Asymptomatic
  • CHNG1 presents with a range of severity: most patients are euthyroid and asymptomatic, with a thyroid gland of normal size, while a subset of patients develop hypothyroidism and have a hypoplastic thyroid gland.[medical-dictionary.thefreedictionary.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.[uniprot.org]
  • It presents with a range of severity: most patients are euthyroid and asymptomatic with a normal sized thyroid gland; a subset of patients develop hypothyroidism and present with a hypoplastic thyroid.[newmedicalterms.com]
  • Sixty-five to eighty percent of cases occurred in females. 2 Although it is difficult to detect asymptomatic thyroid ectopy, post-mortem studies have suggested that 7-10% of adults may harbor asymptomatic thyroid tissue along the path of the thyroglossal[hormones.gr]
Physician
  • Recognition of the abnormality is sufficient to confirm to the physician and patient that their defect is compensated and no further treatment is required.[endocrinologyadvisor.com]
  • *Medscape Business of Medicine Academy Survey, September 2015 Learn from Experienced Professionals Courses were developed especially for physicians by business health experts and experienced physicians.[medscape.org]
  • The Research Unit of the Royal College of Physicians of London, the Endocrinology and Diabetes Committee of the Royal College of Physicians of London, and the Society for Endocrinology. BMJ. 1996;313(7056):539–544. 21.[aafp.org]
  • The disorder was originally described by Japanese physician Hakaru Hashimoto and thus is often referred to by his name: Hashimoto’s thyroiditis. CLT is more common in girls than in boys, and in adolescents more than pre-adolescents.[chop.edu]
  • New ‘In Adolescence’ boxes recognise the fact that many chronic disorders begin in childhood and become the responsibility of physicians practising adult medicine.[books.google.de]
Chronic Fatigue Syndrome
Reduced Fetal Movement
  • At 31 weeks gestation, considerable polyhydramnios and fetal hypothyroidism persisted (amniotic TSH: 5.3 mIU/L (NR Outcome and follow-up At 31   3 weeks gestation, an obstetric scan was performed for reduced fetal movements, which revealed an intrauterine[edmcasereports.com]
Long Arm
  • (These two articles discuss the linkage of the long arm of Chromosome 15 with kindreds having RTSH without known mutations in the TSHR.[endocrinologyadvisor.com]
  • The open reading frames of the THOX1 and THOX2 genes are divided among 33 exons, spanning 36 and 22 kb, respectively, on the long arm of chromosome 15. All 33 coding exons for both genes were PCR-amplified from genomic DNA of the patients.[nejm.org]
  • Another form of TSH resistance is dominantly inherited and has been linked to the long arm of chromosome 15 [ 42 ]. Resistance occurs in the absence of a TSH receptor mutation and can again cause thyroid hypoplasia [ 43 ].[ojrd.biomedcentral.com]
Short Arm
Cognitive Defect
  • Fetal hypothyroidism is associated with motor and cognitive defects, delayed bone maturation, and impaired neurological development.[e-kjp.org]

Workup

  • […] in a young individual (often diagnosed due to routine screening of newborns for congenital hypothyroidism) Radiologic evaluation includes thyroid ultrasound and scintiscan Correlation of clinical signs with laboratory and ancillary tests Laboratory workup[pathologyoutlines.com]
  • […] lateral radiograph of the knee may be obtained to look for the distal femoral epiphysis; this ossification center appears at about 36 weeks' gestation, and its absence in a term or postterm infant indicates prenatal effects of hypothyroidism. [16] See Workup[emedicine.medscape.com]

Treatment

  • Management and treatment of the Disease 1. TSHR Mutations Fully compensated: This requires no treatment.[endocrinologyadvisor.com]
  • Hypothyroid patients require some form of prescription drug treatment, whether a synthetic T4 only treatment ( levothyroxine, Synthroid, Tirosint), a T3 treatment (liothyronine/Cytomel), a combination of synthetic T4 and T3, a natural desiccated thyroid[holtorfmed.com]
  • Treatment of fetal hypothyroid goitre requires optimization of maternal thyroid status including minimizing doses of antithyroid drugs, followed by either conservative management with neonatal levothyroxine administration, or direct fetal treatment in[edmcasereports.com]
  • […] function in order for early treatment to be initiated if necessary.[radiopaedia.org]
  • If you had hyperthyroidism (or overactive thyroid), your treatment may have left you with hypothyroidism. A common treatment for hyperthyroidism is radioactive iodine. This treatment destroys the thyroid.[healthline.com]

Prognosis

  • […] have evidence of delayed bone maturation may be accompanied by increased fetal movement hyperthyroid goitres more likely to have central vascularization may have evidence of a fetal tachycardia may have evidence of advanced bone maturity Treatment and prognosis[radiopaedia.org]
  • Without treatment patients die at birth, otherwise prognosis is excellent with thyroid hormone supplementation (1). Follicular adenoma can occur in thyroids with DG (5).[path.upmc.edu]
  • A large-scale study is necessary for monitoring therapeutic efficacy and long-term prognosis.[e-kjp.org]
  • Thankfully, the prognosis of thyroid cancer is good for children. If you are a parent of a child who has thyroid disease, the complications can seem alarming.[verywell.com]
  • Prognosis [ edit ] Most children born with congenital hypothyroidism and correctly treated with thyroxine grow and develop normally in all respects.[en.wikipedia.org]

Etiology

  • Sequencing of the PAX8 gene confirms the etiology of this form of RTSH.[endocrinologyadvisor.com]
  • Unresolved questions The underlying etiology of thyroid dysgenesis remains largely unknown.[ojrd.biomedcentral.com]
  • Our data in subjects with congenital hypothyroidism of different etiologies, suggest that serum T 9 determina-tions are useful in the differential diagnosis of congeni-tal hypothyroidism before a thyroid scan is performed.[docslide.us]
  • The etiology can be genetic or environmental, or a combination of both; treatment is based on severity and causality.[icd10data.com]
  • Note Defects in TSHR are found in patients affected by hyperthyroidism with different etiologies.[genecards.org]

Epidemiology

  • "The Epidemiology of Thyroid Disease". British Medical Bulletin. vol. 99. 2011. pp. 39-51.[clinicaladvisor.com]
  • "Epidemiology of congenital hypothyroidism". Experimental and Clinical Endocrinology & Diabetes. 105 Suppl 4: 19–23. doi : 10.1055/s-0029-1211926. PMID 9439909. Harris, KB; Pass, KA (July 2007).[en.wikipedia.org]
  • 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]
  • However, studies have reported a change in the epidemiology, with a doubling in incidence to around 1 in 1500 live newborns. [1, 2] This is thought to be due in part to an increase in congenital hypothyroidism with thyroid gland-in-situ (GIS). [3] Lower[emedicine.medscape.com]
  • CH is also known by certain other names, such as: CHT Cretinism Congenital Myxedema Endemic Cretinism (iodine deficiency) Congenital Hypothyroidism Epidemiology CH is a rare disorder, occurring in almost 1 in every 3000 to 4000 individuals.[hxbenefit.com]
Sex distribution
Age distribution

Pathophysiology

  • 912 Seiten Werner & Ingbar’s The Thyroid: A Fundamental and Clinical Text, 10th Edition has been extensively revised and streamlined to deliver the most comprehensive coverage of the thyroid including anatomy, development, biochemistry, physiology, pathophysiology[books.google.de]
  • In conclusion, here we discussed remarkable advances in the understanding of the pathophysiology the CH as well as in the identification of the mutations responsible for the disease.[clinical-and-molecular-endocrinology.imedpub.com]
  • 15%) after thyroid dysgenesis F M (2:1) Mean age at surgery is 16 years (range varies from neonates to sixth decade), with 80% cases occur before 25 years No racial or ethnic predilection ( Thyroid 2011;21:13 ) Sites Diffuse involvement of both lobes Pathophysiology[pathologyoutlines.com]
  • Pathophysiology Autoimmune thyroid disease can be caused by multiple autoantibodies. All thyroid antibodies can be seen in all forms of autoimmune thyroid disease, in varying degrees of specificity.[clinicaladvisor.com]
  • This work was supported by grants from Universidad de Buenos Aires (BIn the last decade, remarkable advances have been078/2008 to H.M.T.) and CONICET (PIP 112-2000801-0054/2009made in the understanding of the pathophysiology the to C.M.R. and H.M.T.).[vdocuments.com.br]

Prevention

  • If tests are positive, they can take measures to prevent the disease from progressing.[medicalnewstoday.com]
  • Congenital Hypothyroidism Prevention Although dietary iodide supplementation helps to prevent cretinism and endemic goiter, it does not assist in protecting the child from sporadic CH.[hxbenefit.com]
  • Introduction Congenital hypothyroidism (CH) occurs in approximately 1 in 4,000 newborns worldwide and is one of the most common causes of preventable mental retardation in children [1].[alliedacademies.org]
  • Medicines such as amiodarone, lithium, interferon alpha, and interleukin-2 can prevent the thyroid gland from being able to make hormone normally.[thyroid.org]
  • It is also one of the most common preventable causes of cognitive and motor deficits. Prevention of CH is based on carrier identification, genetic counseling and prenatal diagnosis.[clinical-and-molecular-endocrinology.imedpub.com]

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