Cargando…

Familial Non-autoimmune Hyperthyroidism in Family Members Across Four Generations Due To a Novel Disease-causing Variant in The Thyrotropin Receptor Gene

Activating disease-causing variants in the thyrotropin-receptor (TSHR) gene are associated with familial or sporadic congenital non-autoimmune hyperthyroidism. Familial non-autoimmune hyperthyroidism (FNAH) is a rare form of hyperthyroidism with 41 families reported so far in the TSHR gene mutation...

Descripción completa

Detalles Bibliográficos
Autores principales:	Malej, A, Avbelj Stefanija, M, Bratanič, N, Trebušak Podkrajšek, K
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Sciendo 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8009563/ https://www.ncbi.nlm.nih.gov/pubmed/33816077 http://dx.doi.org/10.2478/bjmg-2020-0022

Ejemplares similares

Clinical, Genetic and Immunological Characteristics of Paediatric Autoimmune Polyglandular Syndrome Type 1 Patients in Slovenia
por: BRATANIC, Nina, et al.
Publicado: (2015)

Central TSH Dysregulation in a Patient with Familial Non-Autoimmune Autosomal Dominant Hyperthyroidism Due to a Novel Thyroid-Stimulating Hormone Receptor Disease-Causing Variant
por: Suput Omladic, Jasna, et al.
Publicado: (2021)

Multifocal gastric adenocarcinoma in a patient with LRBA deficiency
por: Bratanič, Nina, et al.
Publicado: (2017)

Childhood Osteoporosis and Presentation of Two Cases with Osteogenesis Imperfecta Type V
por: BRATANIC, Nina, et al.
Publicado: (2015)

Hypercholesterolemia in Two Siblings with Resistance to Thyroid Hormones Due to Disease-Causing Variant in Thyroid Hormone Receptor (THRB) Gene
por: Pajek, Maja, et al.
Publicado: (2020)

Novel Insights Into Monogenic Obesity Syndrome Due to INPP5E Gene Variant: A Case Report of a Female Patient
por: Drole Torkar, Ana, et al.
Publicado: (2021)

Long-Term Follow-Up of Three Family Members with a Novel NNT Pathogenic Variant Causing Primary Adrenal Insufficiency
por: Krasovec, Tjasa, et al.
Publicado: (2022)

Case Report: Multiple prolactinomas in a young man with Kallmann syndrome and familial hypocalciuric hypercalcemia
por: Jensterle, Mojca, et al.
Publicado: (2023)

GNRHR-related central hypogonadism with spontaneous recovery – case report
por: Šmigoc Schweiger, Darja, et al.
Publicado: (2022)

MON-264 Familial Neonatal Nonautoimmune Hyperthyroidism Due To A Thyrotropin Receptor Gene Mutation (A619G).
por: Taha, Doris, et al.
Publicado: (2019)

A Novel Splice-Site Deletion in the POU1F1 Gene Causes Combined Pituitary Hormone Deficiency in Multiple Sudanese Pedigrees
por: Hassan, Samar S., et al.
Publicado: (2022)

Medium-chain acyl-CoA dehydrogenase deficiency: Two novel ACADM mutations identified in a retrospective screening
por: Smon, Andraz, et al.
Publicado: (2018)

Genetic and clinical characteristics including occurrence of testicular adrenal rest tumors in Slovak and Slovenian patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
por: Saho, Robert, et al.
Publicado: (2023)

Molecular description of non-autoimmune hyperthyroidism at a neonate caused by a new thyrotropin receptor germline mutation
por: Biebermann, Heike, et al.
Publicado: (2011)

Sporadic Nonautoimmune Neonatal Hyperthyroidism Due to A623V Germline Mutation in the Thyrotropin Receptor Gene
por: Aycan, Zehra, et al.
Publicado: (2010)

Severe thyrotoxicosis in an infant revealing familial nonautoimmune hyperthyroidism with a novel (C672W) stimulating thyrotropin receptor germline mutation
por: Oliver‐Petit, Isabelle, et al.
Publicado: (2017)

Pathogenetic Role of Thyrotropin Receptor Antibody in the Development of Hyperthyroidism Following Primary Hypothyroidism
por: Shong, Young Kee, et al.
Publicado: (1989)

Discovering the Unexpected with the Utilization of NGS in Diagnostics of Non-syndromic Hearing Loss Disorders: The Family Case of ILDR1-Dependent Hearing Loss Disorder
por: Kovač, Jernej, et al.
Publicado: (2017)

Report of a family with three generations of undiagnosed familial nonautoimmune hyperthyroidism
por: Stephenson, Alexandra, et al.
Publicado: (2021)

Non-alcoholic fatty liver disease in a pediatric patient with heterozygous familial hypobetalipoproteinemia due to a novel APOB variant: a case report and systematic literature review
por: Molk, Neza, et al.
Publicado: (2023)

Antigen-Specific Immunotherapy with Thyrotropin Receptor Peptides in Graves' Hyperthyroidism: A Phase I Study
por: Pearce, Simon H.S., et al.
Publicado: (2019)

The Influence of Treatment with PCSK9 Inhibitors and Variants in the CRP (rs1800947), TNFA (rs1800629), and IL6 (rs1800795) Genes on the Corresponding Inflammatory Markers in Patients with Very High Lipoprotein(a) Levels
por: Levstek, Tina, et al.
Publicado: (2022)

SAT-268 Thyrotropin Secreting Pituitary Adenoma Initially Misdiagnosed as Primary Hyperthyroidism in a Taiwanese Man
por: Lin, Yu-Yi, et al.
Publicado: (2020)

FRI476 Asymptomatic Thyrotropin-secreting Pituitary Microadenoma With Biochemical Secondary Hyperthyroidism: A Diagnostic Conundrum
por: Al-Naqeeb, Ghadah, et al.
Publicado: (2023)

IL‐6‐specific autoantibodies among APECED and thymoma patients
por: Kärner, Jaanika, et al.
Publicado: (2016)

Novel GRHL2 Gene Variant Associated with Hearing Loss: A Case Report and Review of the Literature
por: Trebusak Podkrajsek, Katarina, et al.
Publicado: (2021)

Conversion of autoimmune hypothyroidism to hyperthyroidism
por: Furqan, Saira, et al.
Publicado: (2014)

Telomere Attrition in Chronic Kidney Diseases
por: Levstek, Tina, et al.
Publicado: (2023)

Special Issue “Genetics and Epigenetics in Endocrine Disorders”
por: Trebušak Podkrajšek, Katarina, et al.
Publicado: (2023)

Targeting TNF and Its Family Members in Autoimmune/Inflammatory Disease
por: Desplat-Jégo, Sophie, et al.
Publicado: (2014)

Familial interstitial lung disease in four members of one family: a case series
por: Alhamad, Esam H
Publicado: (2009)

An A627V-activating mutation in the thyroid-stimulating hormone receptor gene in familial non-autoimmune hyperthyroidism
por: Shin, Jung Hyun, et al.
Publicado: (2020)

Case report: A rare case of thyrotropin-secreting pituitary macroadenoma with diffuse calcification presenting with hyperthyroidism and literature review
por: Yan, Huiying, et al.
Publicado: (2023)

An Intron c.103-3T>C Variant of the AMELX Gene Causes Combined Hypomineralized and Hypoplastic Type of Amelogenesis Imperfecta: Case Series and Review of the Literature
por: Leban, Tina, et al.
Publicado: (2022)

Bereaved family members’ perceptions of the quality of end-of-life care across four types of inpatient care settings
por: Stajduhar, Kelli, et al.
Publicado: (2017)

Early Discovery of Children With Lysosomal Acid Lipase Deficiency With the Universal Familial Hypercholesterolemia Screening Program
por: Sustar, Ursa, et al.
Publicado: (2022)

Dataset on amelogenesis-related genes variants (ENAM and ENAM interacting genes) and on human leukocyte antigen alleles (DQ2 and DQ8) distribution in children with and without molar-incisor hypomineralisation (MIH)
por: Hočevar, Luka, et al.
Publicado: (2020)

The Association of Thyrotropin and Autoimmune Thyroid Disease in Developing Papillary Thyroid Cancer
por: Lee, I-Shuan, et al.
Publicado: (2017)

Associated autoimmune diseases in patients with multifocal motor neuropathy and their family members
por: Cats, Elisabeth A., et al.
Publicado: (2011)

Prioritization of family member sequencing for the detection of rare variants
por: Sippy, Rachel, et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_iesjlsl8nl7riqqdhlu0f15irm