1. The c.63A>G polymorphism in the NKX2.5 gene is associated with thyroid hypoplasia in children with thyroid dysgenesis

Objective To search for genetic alteration in NKX2.5 gene in patients presenting both congenital heart disease (CHD) and TD. Subjects and methods Individual phenotypes were carefully analyzed in 86 children with thyroid dysgenesis (TD) using thyroid function tests, scintigraphy, ultrasound and echocardiography. DNA was extracted and NKX2.5 gene coding re

Arch. Endocrinol. Metab.. Publicado em: 25/09/2015

2. Contribuição da dosagem de tireoglobulina e de exames de imagem para o diagnóstico de hipotireoidismo congênito: pesquisa dos genes PAX8 e receptor do TSH na disgenesia tireoidiana / Contribution of thyroglobulin and image exams for congenital hypothyroidism diagnosis: research of PAX8 and TSH receptor gene in dysgenesis

INTRODUÇÃO: O hipotireoidismo congênito (HC) é uma doença, de acometimento neonatal, caracterizada por diminuição nos níveis de hormônios tireoidianos. As causas mais comuns de HC primário permanente são as alterações no desenvolvimento da glândula tireóide (disgenesia) e os defeitos de síntese dos hormônios tireóideos (disormonogênese). A

Publicado em: 2009

3. Screening and functional analysis of thyroglobulin gene mutations de mutações related to congenital goiter and hypothyroidism / Rastreamento e estudo funcional de mutações no gene da tireoglobulina associadas a bócio congênito e hipotireoidismo

Introduction: Congenital hypothyroidism is one of the most common hereditary endocrine disorders, which affects 1:4000 newborns. Congenital hypothyroidism is caused by thyroid gland dysgenesis (80%) or inborn errors of thyroid hormone synthesis (20%). Genetic defects in thyroglobulin, pendrin, thyroperoxidase, dual oxidase 2, simporter sodium/iodine have bee

Publicado em: 2008

4. PAX8 and rTSH genes involvement in congenital hypothyrodism in patients with thyroid dysgenesis / "Avaliação do envolvimento dos genes PAX8 e rTSH no hipotireoidismo congênito em pacientes com disgenesia tireoidiana"

Estudamos 32 crianças com HC devido à agenesia ou ectopia tireoideana para mutações no PAX8 e 30 crianças com hipoplasia da tireóide para mutações no rTSH. Todos os exons de ambos os genes foram amplificados a partir do DNA genômico, seguido por seqüenciamento direto. Encontramos, em dois pacientes com ectopia, duas alterações no gene PAX8, uma n

Publicado em: 2005

5. Impact of congenital calcitonin deficiency due to dysgenetic hypothyroidism on bone mineral density

The objective of the present study was to determine the effect of chronic calcitonin deficiency on bone mass development. The results of 11 patients with thyroid dysgenesis (TD) were compared to those of 17 normal individuals (C) and of 9 patients with other forms of hypothyroidism (OH): 4 with hypothyroidism due to inborn errors of thyroid hormone synthesis

Brazilian Journal of Medical and Biological Research. Publicado em: 2004-01

6. Partial deficiency of Thyroid transcription factor 1 produces predominantly neurological defects in humans and mice

Three genes, TTF1, TTF2, and PAX8, involved in thyroid gland development and migration have been identified. Yet systematic screening for defects in these genes in thyroid dysgenesis gave essentially negative results. In particular, no TTF1 gene defects were found in 76 individuals with thyroid dysgenesis even though a deletion of this gene in the mouse resu

American Society for Clinical Investigation.

7. Impairing follicle-stimulating hormone (FSH) signaling in vivo: Targeted disruption of the FSH receptor leads to aberrant gametogenesis and hormonal imbalance

Pituitary gonadotropins follicle-stimulating hormone (FSH) and luteinizing hormone stimulate the gonads by regulating germ cell proliferation and differentiation. FSH receptors (FSH-Rs) are localized to testicular Sertoli cells and ovarian granulosa cells and are coupled to activation of the adenylyl cyclase and other signaling pathways. Activation of FSH-Rs

The National Academy of Sciences.