Searchable abstracts of presentations at key conferences in endocrinology

ea0056oc9.3 | Thyroid from basics to clinics | ECE2018

A mouse model of BRAF V600E mutated papillary thyroid cancer imitating sporadic conditions

Jakubikova Iva , Schoultz Elin , Johansson Ellen , Liang Shawn , Patyra Konrad , Kero Jukka , Zak Pavel , Nilsson Mikael

Introduction: Worldwide constantly rising incidence of thyroid cancer promotes research activities. Nowadays the most speculated issue is the clinical significance of BRAF mutation. For sure BRAF mutation is a cancer-specific somatic mutation consistent with papillary thyroid cancer phenotype, otherwise, its role in tumor aggressiveness, progression, and the overall poor outcome is controversial. As far as several clinical studies claim opposing opinions, the learning aspect o...

ea0073oc15.2 | Oral Communications 15: Late Breaking | ECE2021

Screening for mutations in isolated central hypothyroidism reveals a novel mutation in insulin receptor substrate 4 (IRS4)

Patyra Konrad , Kristiina Makkonen , Maria Haanpää , Karppinen Sinikka , Viikari Liisa , Jorma Toppari , Mary Pat Reeve , Kero Jukka

BackgroundCentral hypothyroidism (CeH) is a rare condition affecting approximately 1:16000 – 100 000 individuals. Congenital forms can harm the normal development if not detected and treated promptly. The clinical and biochemical diagnosis especially of the isolated CeH can be challenging. The cases are not usually detected in the neonatal screening, which, in most countries, are focused on detection of the more prevalent primary hypothyroidism. Unt...

ea0049oc4.2 | Thyroid Disease 1 | ECE2017

Inducible thyrocyte-specific Gs alpha-deficient mice as a novel model for hypothyroidism

Patyra Konrad , Jaeschke Holger , Undeutsch Henriette , Lof Christoffer , Ruohonen Suvi , Jannari Meeri , Chen Min , Weinstein Lee S. , Paschke Ralf , Toppari Jorma , Kero Jukka

The thyroid gland produces thyroid hormones, which are essential regulators of growth, development and metabolism of the body and is mainly regulated by the thyroid stimulating hormone (TSH)/TSH receptor (TSHR) interplay. The TSHR couples to all four G protein families in vitro but only for the Gs and Gq signaling cascade a role has been identified in vivo. To gain further insights into the complex signaling networks mediated by G proteins in the thyroid, we generated...