Volume 82 | ESPE2014 | Next issue

ESPE 2014

Dublin, Ireland
18 Sep 2014 - 20 Sep 2014

Card image cap
Dublin, Ireland; 18-20 September 2014. Further information

hrp0082fc13.1 | Thyroid | ESPE2014

Massive Sequencing of Thyroidal Genes Reveals Unexpected Polygenic Defects in Dyshormonogenic Hypothyroidism

Iglesias A , Garcia M , Ventura P , Pozo J , Clemente M , Audi L , Corripio R , Garikano K , Polak M , del Pozo A , Visser T J , Moreno J C

Background: Dyshormonogenic hypothyroidism is classically a monogenic disease with recessive inheritance. Thyroid dysgenesis showed a multigenic origin in a mouse model of double-heterozygous deletions of Nkx2.1/Pax8 transcription factor genes, suggesting a possible polygenic nature of certain cases of human hypothyroidism.Objective and Hypotheses: To investigate genetic traits of polygenic involvement in dyshormonogenic hypothyroidism,...

hrp0082fc13.2 | Thyroid | ESPE2014

Thyroid Agenesis and Severe Thyroid Hypoplasia Caused by a New Inactivating TSH Receptor Mutation Ala579Val

Wessel Theda , Handke Daniela , Kleinau Gunnar , Winkler Franziska , Gruters Annette , Kuhnen Peter , Krude Heiko , Biebermann Heike

Background: Congenital thyroid dysgenesis usually occurs sporadically and may even be discordant in monozygotic twins. However, when caused by inactivating mutations in the TSH receptor (TSHR) it can be inherited recessively, typically resulting in thyroid gland hypoplasia. We present a new familial case of thyroid dysgenesis with two siblings of consanguineous parents. The daughter was identified in neonatal screening with severely elevated TSH and thyroid agenesis on ultraso...

hrp0082fc13.3 | Thyroid | ESPE2014

Overexpression of Supressor Tumoral PTEN, but not DREAM, was Detected in Multinodular Goiter in Humans

Shinzato Amanda , Lerario Antonio M , Danilovic Debora S , Marui Suemi , Lin Chin J , Trarbach Ericka B

Background: A high proliferative status of thyroid follicular cells and goiter were observed in mutants mice with Pten−/− or Dream overexpression. In humans, patients with Cowden disease have goiters or other thyroid abnormalities associated with germ-line PTEN mutations.Objective and Hypotheses: The aim of this study was to investigate the tissue expression of PTEN and DREAM, as well as germ-line ...

hrp0082fc13.4 | Thyroid | ESPE2014

The Prevalence of Congenital Malformations in Infants with TSH Elevation on Newborn Screening: the Importance of Distinguishing Between True and Transient Congenital Hypothyroidism

Ouarezki Yasmine , Mansour Chourouk , Jones Jeremy , alghanay Abubaker , Smith Sarah , Stone David , Donaldson Malcolm

Backgrounds: The prevalence of congenital malformations (CM) is higher in infants referred with capillary (c) TSH elevation on newborn screening. However, establishing the prevalence of CM ± dysmorphic syndromes in true congenital hypothyroidism (CH) requires careful distinction between true and transient CH.Objective: To determine the prevalence of CM ± dysmorphic syndromes in all infants referred with TSH elevation on newborn screening in Sco...

hrp0082fc13.5 | Thyroid | ESPE2014

The Ultrastructural Changes in Thyroid Cells in the Course of Damage in Hashimoto’s Thyroiditis

Ben-Skowronek Iwona , Szewczyk Leszek , Korobowicz Elzbieta

Background: The development of the Hashimoto’s thyroiditis is the result of the damage to thyrocytes, apoptosis, and autoimmune cytotoxic action of lymphocytes.Objective and Hypotheses: The aim of the study is to present ultrastructural changes in thyroid cells in the course of damage in Hashimoto’s thyroiditis.Method: The study involved 40 children: 20 children with Hashimoto’s thyroiditis and 20 children as a contr...

hrp0082fc13.6 | Thyroid | ESPE2014

Abnormal Thyroid Hormone Metabolism in Patients with THRA Mutations due to Impaired Expression of the Type 3 Deiodinase

van Gucht Anja , van Mullem Alies , Horn Sigrun , Meima Marcel , Forrest Douglas , van Heerebeek Ramona , Visser Edward , Heuer Heike , Peeters Robin , Visser Theo

Background: Patients with a mutation in the thyroid hormone (TH) receptor TRα1 are characterized by growth retardation, delayed bone development, mild cognitive defects and constipation. They also have abnormal TH levels: low FT4, high T3, and low rT3 levels, suggesting an altered peripheral TH metabolism by deiodinases. The type 3 deiodinase (D3) inactivates TH by catalyzing the degradation of T3. D3 is importantly expressed in...