Cargando…

Congenital hypothyroidism due to thyroglobulin deficiency: a case report with a novel mutation in TG gene

Congenital hypothyroidism (CH) is the most common endocrine disorder in neonates and infants with an incidence of one in 2,000 to one in 4,000 newborns. Primary CH can be caused by thyroid dysgenesis and thyroid dyshormonogenesis. CH due to a TG gene mutation is one cause of thyroid dyshormonogenesi...

Descripción completa

Detalles Bibliográficos
Autores principales:	Heo, Seung, Jang, Ja-Hyun, Yu, Jeesuk
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Korean Society of Pediatric Endocrinology 2019
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6790875/ https://www.ncbi.nlm.nih.gov/pubmed/31607114 http://dx.doi.org/10.6065/apem.2019.24.3.199

Ejemplares similares

A Novel Mutation in the Thyroglobulin Gene Resulting in Neonatal Goiter and Congenital Hypothyroidism in an Eritrean Infant
por: Stern, Eve, et al.
Publicado: (2022)

MON-270 Diagnostic Exome Sequencing in Children with Permanent Congenital Hypothyroidism
por: Kim, Jisun, et al.
Publicado: (2019)

Association of Cytotoxic T-Lymphocyte Antigen 4 (CTLA4) and Thyroglobulin (TG) Genetic Variants with Autoimmune Hypothyroidism
por: Patel, Hinal, et al.
Publicado: (2016)

A novel mutation in the TG gene (G2322S) causing congenital hypothyroidism in a Sudanese family: a case report
por: Watanabe, Y., et al.
Publicado: (2018)

Neonatal Dyshormonogenetic Goiter with Hypothyroidism Associated with Novel Mutations in Thyroglobulin and SLC26A4 Gene
por: Calcaterra, Valeria, et al.
Publicado: (2021)

Congenital Primary Hypothyroidism with the Homozygous Nonsense Mutation P.K1374* in the Thyroglobulin Gene and a Normal-sized Thyroid Gland on Levothyroxine Replacement
por: Mizokami, Tetsuya, et al.
Publicado: (2019)

Persistent goiter with congenital hypothyroidism due to mutation in DUOXA2 gene
por: Jung, So Yoon, et al.
Publicado: (2020)

MON-265 Congenital Hypothyroidism and Bilateral Ptosis Due to a Novel TSHR Gene Mutation
por: Marinescu, Andreea, et al.
Publicado: (2019)

Targeted Next-Generation Sequencing of Congenital Hypothyroidism-Causative Genes Reveals Unexpected Thyroglobulin Gene Variants in Patients with Iodide Transport Defect
por: Bernal Barquero, Carlos Eduardo, et al.
Publicado: (2022)

Hypertrichosis due to Congenital Hypothyroidism
por: Zaki, Syed Ahmed, et al.
Publicado: (2011)

Is it possible to predict hypothyroidism after thyroid lobectomy through thyrotropin, thyroglobulin, anti-thyroglobulin, and anti-microsomal antibody?
por: Cho, Jin Seong, et al.
Publicado: (2011)

Congenital Central Hypothyroidism due to a Homozygous Mutation in the TSHβ Subunit Gene
por: Grünert, Sarah Catharina, et al.
Publicado: (2011)

Clinical impact of thyroglobulin (Tg) and Tg autoantibody (TgAb) measurements in needle washouts of neck lymph node biopsies in the management of patients with papillary thyroid carcinoma
por: Martins-Costa, M. Cecilia, et al.
Publicado: (2017)

Severe Congenital Hypothyroidism Due to a Novel Deep Intronic Mutation in the TSH Receptor Gene Causing Intron Retention
por: Larrivée-Vanier, Stéphanie, et al.
Publicado: (2020)

Clinical and molecular characteristics of congenital hypothyroidism with DUOX2 mutations
por: Kim, Yoo-Mi, et al.
Publicado: (2013)

Analysis of the T354P mutation of the sodium/iodide cotransporter gene in children with congenital hypothyroidism due to dyshormonogenesis
por: Miranzadeh-Mahabadi, Hajar, et al.
Publicado: (2016)

Thyroglobulin Gene Mutation with Cold Nodule on Thyroid Scintigraphy
por: Kahara, Toshio, et al.
Publicado: (2012)

Sotos syndrome with a novel mutation in the NSD1 gene associated with congenital hypothyroidism
por: Verma, Arushi, et al.
Publicado: (2021)

High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism
por: Makretskaya, Nina, et al.
Publicado: (2018)

Intrauterine death following intraamniotic triiodothyronine and thyroxine therapy for fetal goitrous hypothyroidism associated with polyhydramnios and caused by a thyroglobulin mutation
por: Vasudevan, Pradeep, et al.
Publicado: (2017)

Serum thyroglobulin evaluation on LC-MS/MS and immunoassay in TgAb-positive patients with papillary thyroid carcinoma
por: Nishihara, Eijun, et al.
Publicado: (2021)

Possible added value of thyroglobulin antibody (TgAb) testing in the evaluation of thyroidal status of subjects with overweight or obesity
por: Fierabracci, P., et al.
Publicado: (2022)

Two siblings with congenital central hypothyroidism caused by a novel mutation in the IGSF1 gene
por: Oguma, Makiko, et al.
Publicado: (2018)

Intra‐amniotic levothyroxine infusions in a case of fetal goiter due to novel Thyroglobulin gene variants
por: Pollé, Olivier G., et al.
Publicado: (2021)

Thyroid Peroxidase Gene Mutation in Patients with Congenital Hypothyroidism in Isfahan, Iran
por: Hashemipour, Mahin, et al.
Publicado: (2012)

Two novel mutations in TTN of a patient with congenital myopathy: A case report
por: Jang, Joon Young, et al.
Publicado: (2019)

Whole-Exome Sequencing in Congenital Hypothyroidism Due to Thyroid Dysgenesis
por: Larrivée-Vanier, Stéphanie, et al.
Publicado: (2022)

A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the SALL1 gene
por: Choi, Won Ik, et al.
Publicado: (2010)

Congenital hypothyroidism
por: Rastogi, Maynika V, et al.
Publicado: (2010)

Congenital hypothyroidism
por: Agrawal, Pankaj, et al.
Publicado: (2015)

Laboratory indicators of hypothyroidism and TgAA-positivity in the Eurasian dog breed
por: Schlipf, Martina, et al.
Publicado: (2023)

Free Thyroxine Concentrations by Equilibrium Dialysis and Chemiluminescent Immunoassays in 13 Hypothyroid Dogs Positive for Thyroglobulin Antibody
por: Randolph, J.F., et al.
Publicado: (2015)

Congenital hypothyroidism due to thyroid ectopy not detected in neonatal screening – case report
por: Stępniewska, Anna, et al.
Publicado: (2023)

Prognostic Value of Basal Serum Thyroglobulin Levels, but Not Basal Antithyroglobulin Antibody (TgAb) Levels, in Patients with Differentiated Thyroid Cancer
por: Neshandar Asli, Isa, et al.
Publicado: (2014)

Thyroglobulin Measurement in Needle Aspiration for Detection of Recurrences and Neck Metastases in Patients with Differentiated Thyroid Carcinoma: Significance of Anti-Tg Antibodies
por: Blažeković, Ivan, et al.
Publicado: (2020)

DUOX2 Mutations Are Frequently Associated With Congenital Hypothyroidism in the Korean Population
por: Park, Kyoung-Jin, et al.
Publicado: (2016)

A Novel Mutation in Thyroid Peroxidase Gene Causing Congenital Goitrous Hypothyroidism in a German-Thai Patient
por: Sriphrapradang, Chutintorn, et al.
Publicado: (2016)

A Novel Homozygous Mutation of Thyroid Peroxidase Gene Abolishes a Disulfide Bond Leading to Congenital Hypothyroidism
por: Yakou, Fumiyoshi, et al.
Publicado: (2020)

A Novel Mutation Causing Pseudohypoparathyroidism 1A with Congenital Hypothyroidism and Osteoma Cutis
por: Lubell, Tamar, et al.
Publicado: (2009)

Novel non-synonymous mutations of PAX8 in a cohort of Chinese with congenital hypothyroidism
por: Qian, Fang, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_8tshgj67cmj3orddc0ge6snf6i