scholarly journals Compound heterozygosity for a novel hemizygous missense mutation and a partial deletion affecting the catalytic core of the H2O2-generating enzyme DUOX2 associated with transient congenital hypothyroidism

2010 ◽  
Vol 31 (4) ◽  
pp. E1304-E1319 ◽  
Author(s):  
Candice Hoste ◽  
Sabrina Rigutto ◽  
Guy Van Vliet ◽  
Françoise Miot ◽  
Xavier De Deken
Keyword(s):  
Missense Mutation ◽  
Congenital Hypothyroidism ◽  
Compound Heterozygosity ◽  
Partial Deletion ◽  
Catalytic Core ◽  
Transient Congenital Hypothyroidism

scholarly journals Unusual cause of congenital hypothyroidism in a term infant

2021 ◽  
Vol 14 (2) ◽  
pp. e237930
Author(s):  
Hester Vlaardingerbroek
Keyword(s):  
Congenital Hypothyroidism ◽  
East Asian ◽  
Neurodevelopmental Outcome ◽  
Daily Basis ◽  
Term Infant ◽  
Pregnancy And Lactation ◽  
Transient Congenital Hypothyroidism ◽  
Dutch Family

Both insufficient and excessive maternal iodine consumption can result in congenital hypothyroidism. In East Asian cultures, seaweed is traditionally consumed in high quantities by peripartum women as it is thought to improve lactation. We present a case of transient congenital hypothyroidism due to maternal seaweed consumption at a daily basis during pregnancy and lactation in a Dutch family without Asian background. This case highlights that even in families of non-Asian background, high maternal intake of iodine-rich seaweed occurs and can result in transient or permanent hyperthyrotropinemia in the neonate with risk of impaired neurodevelopmental outcome if untreated.

scholarly journals Thyroid Gene Mutations in Pregnant and Breastfeeding Women Diagnosed With Transient Congenital Hypothyroidism: Implications for the Offspring’s Health

2021 ◽  
Vol 12 ◽  
Author(s):  
Maria C. Opazo ◽  
Juan Carlos Rivera ◽  
Pablo A. Gonzalez ◽  
Susan M. Bueno ◽  
Alexis M. Kalergis ◽  
...  
Keyword(s):  
Thyroid Hormone ◽  
Thyroid Hormones ◽  
Congenital Hypothyroidism ◽  
Gene Mutations ◽  
Genetic Variations ◽  
Hormone Deficiency ◽  
Iodide Transport ◽  
Transport Defect ◽  
Pregnancy And Lactation ◽  
Transient Congenital Hypothyroidism

Fetus and infants require appropriate thyroid hormone levels and iodine during pregnancy and lactation. Nature endorses the mother to supply thyroid hormones to the fetus and iodine to the lactating infant. Genetic variations on thyroid proteins that cause dyshormonogenic congenital hypothyroidism could in pregnant and breastfeeding women impair the delivery of thyroid hormones and iodine to the offspring. The review discusses maternal genetic variations in thyroid proteins that, in the context of pregnancy and/or breastfeeding, could trigger thyroid hormone deficiency or iodide transport defect that will affect the proper development of the offspring.

scholarly journals Goitrous Congenital Hypothyroidism and Hearing Impairment Associated with Mutations in the TPO and SLC26A4/PDS Genes

2006 ◽  
Vol 91 (7) ◽  
pp. 2678-2681 ◽  
Author(s):  
Nicole Pfarr ◽  
Guntram Borck ◽  
Andrew Turk ◽  
Ulrike Napiontek ◽  
Annerose Keilmann ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Hearing Impairment ◽  
Congenital Hypothyroidism ◽  
Sensorineural Deafness ◽  
Primary Hypothyroidism ◽  
Thyroid Peroxidase ◽  
Compound Heterozygous ◽  
Sequence Variant ◽  
Organification Defect

Abstract Context: Pendred syndrome (PS) and thyroid peroxidase (TPO) deficiency are autosomal-recessive disorders that result in thyroid dyshormonogenesis. They share congenital hypothyroidism, goiter, and an iodide organification defect as common features. Whereas the hallmark of PS is sensorineural deafness, other forms of congenital hypothyroidism may also lead to hearing impairment. Therefore, a definite diagnosis may be difficult and require molecular genetic analyses. Case Report: The propositus presented at birth with primary hypothyroidism and goiter. He also had congenital bilateral moderate hearing loss, and PS was suspected. Methods: We sequenced the SLC26A4/PDS and TPO genes in the propositus and tested familial segregation of mutations in all available family members who were phenotypically normal. The functional consequences of the identified pendrin mutation (p.R776C) were studied in vitro. Results: Sequencing of the SLC26A4/PDS gene revealed a single monoallelic missense mutation in the propositus (p.R776C). This mutation, which was inherited from his unaffected mother, has previously been identified in an individual with deafness and an enlarged vestibular aqueduct. Sequencing of the TPO gene revealed compound heterozygosity for a novel nonsense mutation (p.Q235X) and a known missense mutation (p.Y453D). The mutant pendrin (p.R776C) retained its ability to transport iodide in vitro. Conclusions: These results show that the propositus carries three sequence variants in two genes: a monoallelic SLC26A4/PDS sequence variant and compound heterozygous TPO mutations. Our study illustrates that if only a single heterozygous SLC26A4/PDS mutation is found in a patient with goiter and deafness, other genetic explanations should be considered.

scholarly journals OUTCOME OF 3 SIBLINGS WITH ANTIBODY-MEDIATED TRANSIENT CONGENITAL HYPOTHYROIDISM

1993 ◽  
Vol 33 ◽  
pp. S92-S92
Author(s):  
D Pacaud ◽  
C Huot ◽  
A Gattereau ◽  
R S Brown ◽  
J Glorieux ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Transient Congenital Hypothyroidism

scholarly journals Transient Congenital Hypothyroidism Alters Gene Expression of Glucose Transporters and Impairs Glucose Sensing Apparatus in Young and Aged Offspring Rats

2017 ◽  
Vol 43 (6) ◽  
pp. 2338-2352 ◽  
Author(s):  
Hanieh Gholami ◽  
Sajad Jeddi ◽  
Azita Zadeh-Vakili ◽  
Khadije Farrokhfall ◽  
Fatemeh Rouhollah ◽  
...  
Keyword(s):  
Carbohydrate Metabolism ◽  
Congenital Hypothyroidism ◽  
Glucose Transporter ◽  
Glucose Transporters ◽  
Glucose Sensing ◽  
Hormone Deficiency ◽  
Gene Expressions ◽  
Glut4 Expression ◽  
Increased Risk ◽  
Transient Congenital Hypothyroidism

Background/Aims: Transient congenital hypothyroidism (TCH) could disturb carbohydrate metabolism in adulthood. Aging is associated with increased risk of type 2 diabetes. This study aims to address effects of TCH on mRNA expressions of glucose transporters (GLUTs) and glucokinase (GcK) in islets and insulin target tissues of aged offspring rats. Methods: The TCH group received water containing 0.025% 6-propyl-2-thiouracil during gestation. Offspring from control and TCH groups (n=6 in each group) were followed until month 19. Gene expressions of GLUTs and GcK were measured at months 3 and 19. Results: Compared to controls, aged TCH rats had higher GLUT4 expression in heart (4.88 fold) and soleus (6.91 fold), while expression was lower in epididymal fat (12%). In TCH rats, GLUT2 and GcK expressions in islets were lower in young (12% and 10%, respectively) and higher in aged (10.85 and 8.42 fold, respectively) rats. In addition, liver GLUT2 and GcK expressions were higher in young (13.11 and 21.15 fold, respectively) and lower in aged rats (44% and 5%, respectively). Conclusion: Thyroid hormone deficiency during fetal period impaired glucose sensing apparatus and changed glucose transporter expression in insulin-sensitive tissues of aged offspring rats. These changes may contribute to impaired carbohydrate metabolism.

scholarly journals Treatment and follow-up of children with transient congenital hypothyroidism

2005 ◽  
Vol 6 (12) ◽  
pp. 1206-1209 ◽  
Author(s):  
Ru-lai Yang ◽  
Zhi-wei Zhu ◽  
Xue-lian Zhou ◽  
Zheng-yan Zhao
Keyword(s):  
Congenital Hypothyroidism ◽  
Transient Congenital Hypothyroidism

Permanent and transient congenital hypothyroidism in preterm infants

2011 ◽  
Vol 101 (4) ◽  
pp. e179-e182 ◽  
Author(s):  
Ramesh Srinivasan ◽  
Sundeep Harigopal ◽  
Steve Turner ◽  
Tim Cheetham
Keyword(s):  
Preterm Infants ◽  
Congenital Hypothyroidism ◽  
Transient Congenital Hypothyroidism
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