Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress 2023 EHA Congress 2023 ASCO Annual Meeting
Clinical Collections
Advances in Alzheimer’s

At a glance: The ONWARDS insulin icodec trials

A round-up of the ONWARDS phase 3 clinical trials evaluating the novel weekly insulin icodec in people with diabetes.
ADVANCED SEARCH
Log in
Top
Indian Journal of Pediatrics
Published in: Indian Journal of Pediatrics 3/2017

01-03-2017 | Scientific Letter

Resistance to Thyroid Hormone - A Novel Mutation in THRβ-Gene from India

Authors: Subramanian Kannan, Akansha Jain, Ravikesh Tripathy, Shriraam Mahadevan

Published in: Indian Journal of Pediatrics | Issue 3/2017

Login to get access

Excerpt

To the Editor: Resistance to Thyroid Hormone (RTH) is a dominantly inherited disorder (OMIM#188,570) caused by heterozygous mutations in the THRβ-gene (OMIM*190,160) with an incidence of 1 in 40,000 [1, 2]. Among 183 families investigated, THRβ-gene mutations have been identified in 85 % and among them, 28 % occurred de novo [1]. …
Literature
1.
Refetoff S. Resistance to thyroid hormone. In: Braverman L, Utiger R, editors. Werner and Ingbar’s The Thyroid: A Fundamental and Clinical Text. 9th ed. Philadelphia: Williams and Wilkins; 2005. p. 1109–29.
2.
Refetoff S, Dumitrescu AM. Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters and deiodination. Best Pract Res Clin Endocrinol Metab. 2007;21:277–305.CrossRefPubMed
3.
Adams M, Matthews C, Collingwood TN, Tone Y, Beck-Peccoz P, Chatterjee KK. Genetic analysis of 29 kindreds with generalized and pituitary resistance to thyroid hormone. Identification of thirteen novel mutations in the thyroid hormone receptor beta gene. J Clin Invest. 1994;94:506–15.CrossRefPubMedPubMedCentral
4.
Weiss RE, Weinberg M, Refetoff S. Identical mutations in unrelated families with generalized resistance to thyroid hormone occur in cytosine-guanine-rich areas of the thyroid hormone receptor beta gene. Analysis of 15 families. J Clin Invest. 1993;91:2408–15.CrossRefPubMedPubMedCentral
Metadata
Title
Resistance to Thyroid Hormone - A Novel Mutation in THRβ-Gene from India
Authors
Subramanian Kannan
Akansha Jain
Ravikesh Tripathy
Shriraam Mahadevan
Publication date
01-03-2017
Publisher
Springer India
Published in
Indian Journal of Pediatrics / Issue 3/2017
Print ISSN: 0019-5456
Electronic ISSN: 0973-7693
DOI
https://doi.org/10.1007/s12098-016-2239-3

Other articles of this Issue 3/2017

Indian Journal of Pediatrics 3/2017 Go to the issue

Clinical Brief

Dilated Cardiomyopathy as the Only Clinical Manifestation of Carnitine Transporter Deficiency

Scientific Letter

The Expanding Spectrum of Gottron Papules in Juvenile Dermatomyositis

Correspondence

Discrimination in Seeking Medical Care for Female Child from Birth to Adolescence – A Retrospective Study: Correspondence

Picture of the Month

Reversible Vegetative State in a Child Due to Drug Reaction with Eosinophilia and Systemic Symptoms

Original Article

Hand Foot and Mouth Disease Like Illness in Office Practice

Correspondence

Leukemoid Reaction Due to P. falciparum Infection: Correspondence