FOXE1 Polyalanine Tract Length Polymorphism in Patients with Thyroid Hemiagenesis and Subjects with Normal Thyroid

Szczepanek, Ewelina; Ruchała, Marek; Szaflarski, Witold; Budny, Bartłomiej; Kilinska, Lidia; Jaroniec, Malgorzata; Niedziela, Marek; Zabel, Maciej; Sowiński, Jerzy

doi:10.1159/000322874

Cited by 32 publications

(35 citation statements)

References 33 publications

(37 reference statements)

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“…Advanced maternal age, trisomy 22 and FOXE1 polyalanine tract length polymorphism have been found to be associated with thyroid hemiagenesis [4]. It is found more commonly in females with female: male ratio of 3:1.…”

Section: Discussionmentioning

confidence: 99%

Thyroid Hemiagenesis: Role of an Oncologist

Vd¹,

Nair²,

Datta³

et al. 2015

JCR

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Abstract:Thyroid hemiagenesis is a rare congenital anomaly in which one lobe of thyroid fails to develop; which may or may not be associated with failure of development of the isthmus. Most of the patients remain asymptomatic. Thyroid pathologies are more common in these patients than the normal population. Euthyroid cases without any above mentioned disorders need reassurance for the patient. Importance of this case lies in two important things. First thyroid hemiagenesis is associated with increased incidence of other associated disorders including malignancy. Hence close follow up is essential. Secondly, when in euthyroid status, proper patient counselling and avoidance of unnecessary surgery are of paramount importance to avoid permanent hypothyroidism.

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Section: Discussionmentioning

confidence: 99%

Thyroid Hemiagenesis: Role of an Oncologist

Vd¹,

Nair²,

Datta³

et al. 2015

JCR

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“…Genetic components affect the development, positioning and size of the thyroid gland in some cases of thyroid dysgenesis. Several gene mutations including TTF-1, TTF-2, PAX8 and FOXE1, which are related to the development of the thyroid gland have been identified in some cases of thyroid dysgenesis, however the pathogenesis of these disorders still remains largely unknown [9,10]. …”

Section: Discussionmentioning

confidence: 99%

22q11.2 Microduplication with Thyroid Hemiagenesis

Kim

Yoo

et al. 2013

Horm Res Paediatr

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Background: Chromosome 22q11.2 microduplications are extremely rarely detected; in comparison, the deletion of same region, known as the DiGeorge/velocardiofacial syndrome, occurs more frequently. Thyroid anomalies commonly occur in patients with 22q11.2 deletion syndrome, however few reports of thyroid anomalies associated with 22q11.2 microduplication have been published thus far. Case Report: We present a case of a male infant who was prenatally diagnosed with 22q11.2 microduplication and was found to have congenital hypothyroidism due to thyroid hemiagenesis after birth. Moreover, the baby had bilateral hearing impairment, bilateral cryptorchidism, and a rotated penis. At the age of 2 years, the infant was euthyroid with levothyroxine replacement, but he showed significant developmental delay. Conclusions: To our knowledge, this is the first case of congenital hypothyroidism with thyroid hemiagenesis in a patient showing 22q11.2 microduplication. Thyroid dysgenesis could be an additional clinical feature shared by the 22q11.2 microduplication and deletion syndrome, suggesting that the duplication and deletion of a gene may result in a common phenotype. Thyroid dysgenesis should be considered in the evaluation and management of patients with this genomic disorder.

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“…(8) . In the analyzed group (40 individuals with thyroid hemiagenesis aged 12 -79 years), the familial form was observed in 6 individuals from 3 families.…”

Section: Discussionmentioning

confidence: 99%

“…Recently, reports prepared by a Polish group of investigators have been published; they present the results of the fi rst systematic analysis of a large cohort (n = 40) of subjects with thyroid hemiagenesis (7) . The authors have also undertaken an attempt at assessing the role of FOXE1-polyalanine expansion in the genetic background of thyroid hemiagenesis (8) .…”

Section: Introductionmentioning

confidence: 99%

Thyroid developmental anomalies among first-degree relatives of children with thyroid dysgenesis and congenital hypothyroidism

Tylek-Lemanskaz¹,

Wyrobek²,

Grodzicka³

et al. 2012

Journal of Pediatric Endocrinology and Metabolism

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Background: Thyroid dysgenesis (TD) is usually sporadic.In approximately 2 % -8 % of TD cases, familial TD has been identifi ed. Aims: The aim of this study is to defi ne the prevalence of thyroid developmental anomalies in fi rst-degree relatives of children with TD-caused congenital hypothyroidism (CH). Methods: The investigation included 102 relatives of 33 children with CH and TD (study group) and 27 relatives of 12 normal children (comparative group). All the individuals were subjected to thyroid ultrasound and serum thyroid stimulating hormone (TSH) and free T4 (FT4) determinations. Statistical analysis was based on Fisher ' s exact test. Results: TD-caused familial CH was noted in 2 of 33 (6 % ) children with CH. Asymptomatic thyroid developmental anomaly was seen in 1 of 102 (1 % ) relatives -left thyroid lobe hypoplasia in the mother of a girl with CH and thyroid severe hypoplasia. Familial prevalence of asymptomatic TD in the study group was observed in 1 of 32 families (3.13 % ). None of the comparative group members demonstrated any thyroid developmental anomalies. Conclusions: The prevalence rate of thyroid developmental anomalies in the study group is slightly higher than in the comparative group. These disturbances are asymptomatic.

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FOXE1 Polyalanine Tract Length Polymorphism in Patients with Thyroid Hemiagenesis and Subjects with Normal Thyroid

Cited by 32 publications

References 33 publications

Thyroid Hemiagenesis: Role of an Oncologist

Thyroid Hemiagenesis: Role of an Oncologist

22q11.2 Microduplication with Thyroid Hemiagenesis

Thyroid developmental anomalies among first-degree relatives of children with thyroid dysgenesis and congenital hypothyroidism

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