TITLE

Dyshormonogenetic goiter and associated non-thyroidal anomalies

AUTHOR(S)
Farooqui, Khalid J.; Rather, Tanveer A.; Masoodi, Shariq R.; Khan, Shoukat H.; Wani, Arshad I.
PUB. DATE
December 2012
SOURCE
Indian Journal of Endocrinology & Metabolism;Dec2012 Supplement, Vol. 16, pS342
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
Background: Dyshormonogenetic goiter (DG) refers to familial goitres owing to an inherited defect in the metabolism of thyroid hormones and accounts for 10-15% of all cases of congenital hypothyroidism. Aim and Objective: To identify dysmorphic features, cardiac and urogenital anomalies in patients with DG following in the pediatric endocrinology clinic. Materials and Methods: Eight adolescents following the pediatric endocrinology clinic for hypothyroidism and associated stigmata were identiied with dyshormonogenesis using 99mTc radionuclide thyroid scintigraphy and conirmation by the Perchlorate discharge test during a 6-month period from January to July 2012. Screening for associated malformations was done using clinical examination, echocardiography and ultrasonography of abdomen. Results: The eight patients (two boys and six girls) had a mean age of 9.87 years. The mean duration of goitre was 36.12 months. Two patients had mental retardation and delayed developmental milestones one of whom had ectopic left kidney on renal scintigraphy. Mitral regurgitation was seen in one patient whereas renal anomalies in the form of ectopic kidney and small/ contracted kidney with grade III hydronephrosis was seen in two patients. Penoscrotal hypospadias was identified in one of the patients who also had small/contracted kidney with grade III hydronephrosis and underwent pyeloplasty for the same. Dysmorphic features in the form of high arched palate, depressed nasal bridge and low set ears was seen in one patient. Conclusion: DG is associated with other extra-thyroidal congenital anomaly, some of which may need to be treated.
ACCESSION #
85601583

 

Related Articles

  • Hashimoto’s Thyroiditis. Takami, Hiroshi; Miyabe, Rika; Kameyama, Kaori // World Journal of Surgery;May2008, Vol. 32 Issue 5, p688 

    Goiters were often associated with iodine deficiency in European mountain areas, with some goiters being quite disfiguring. However, some goiters seem not to be related to iodine deficiency. One of the types of goiter that are unrelated to iodine deficiency is the disease described by Hakaru...

  • Penicillamine.  // Reactions Weekly;11/29/2008, Issue 1230, p29 

    The article presents a case study of several patients who developed hypothyroidism and goiter after being exposed to penicillamine. The first patient received the drug for treatment of Wilson's disease for 15 years, delivered two babies who were noted to have goitrous hypothyroidism after being...

  • endemic goitre. Peters, Michael // BMA A-Z Family Medical Encyclopedia;2004, p266 

    An encyclopedia entry for "endemic goitre" is presented. It is a type of goitre, a swelling of the neck due to enlargement of the thyroid gland, that occurs due to a deficiency of iodine in the diet. Iodine is vital for the production of the thyroid hormones triiodothyronine and thyroxine....

  • Thyroid cancer in toxic and non-toxic multinodular goiter. Cerci, C.; Cerci, S. S.; Eroglu, E.; Dede, M.; Kapucuoglu, N.; Yildiz, M.; Bulbul, M. // Journal of Postgraduate Medicine;Jul-Sep2007, Vol. 53 Issue 3, p157 

    Background: Many authors have claimed that hyperthyroidism protects against thyroid cancer and believed that the incidence of malignancy is lower in patients with toxic multinodular goiter (TMG) than in those with non-toxic multinodular goiter. But in recent studies, it was reported that the...

  • Experimental study on the effects of chronic iodine excess on thyroid function, structure, and autoimmunity in autoimmune-prone NOD.H-2h4 mice. Xiaochun Teng; Zhongyan Shan; Weiping Teng; Chenling Fan; Hong Wang; Rui Guo // Clinical & Experimental Medicine;Mar2009, Vol. 9 Issue 1, p51 

    Iodine is an essential component of thyroid hormones; high intake may lead to thyroid disease. Epidemiologic researches have shown that exposure to iodine may be involved in the onset and development of autoimmune thyroiditis. Iodine may induce hypothyroidism in patients with autoimmune...

  • Expression and significance of IGF-1 and IGF-1R in thyroid nodules. Liu, Ying-Jian; Qiang, Wei; Shi, Jing; Lv, Si-Qing; Ji, Mei-Ju; Shi, Bing-Yin // Endocrine (1355008X);Aug2013, Vol. 44 Issue 1, p158 

    There are limitations in the diagnosis of thyroid nodules, especially follicular lesions, and their pathogenesis remains unclear. Insulin-like growth factor-1 (IGF-1) has been implicated in tumor cell apoptosis, transformation, invasion, and metastasis; however, its role in thyroid nodules is...

  • Clinical: Clinical solutions - Subclinical hypothyroidism.  // GP: General Practitioner;11/6/2009, p26 

    The article presents information on how to treat patient with subclinical hypothyroidism. It mentions that diagnosis should be made only after a confirmatory result on repeat testing within three to six months, which shows Thyrotrophin-stimulating hormone (TSH) are above the reference range. It...

  • Avicenna, the First to Describe Thyroid-Related Orbitopathy. Iraj Nabipour; Albert Burger; Muhammad-Reza Moharreri; Fereidoun Azizi // Thyroid;Jan2009, Vol. 19 Issue 1, p7 

    The history of the association of goiter and orbital disease is discussed. Although Graves and Basedow are credited with the first descriptions of this association, it was described many years earlier between AD 1000 and 1110 by two Persian physicians and philosophers, Avicenna and Al-Jurjani.

  • Changing iodine intake and the effect on thyroid disease. Hall, R.; Lazarus, J.H. // British Medical Journal (Clinical Research Edition);3/21/1987, Vol. 294 Issue 6574, p721 

    Investigates the changing iodine intake and the effect on thyroid disease in Great Britain. Manifestations of iodine deficiency; Prevalence of non-toxic goiter and hyperthyroidism; Resistance of patients to carbimazole.

Share

Read the Article

Courtesy of THE LIBRARY OF VIRGINIA

Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics