Cytomorphologic analysis of dyshormonogenetic goiter.

Diagn Cytopathol

Dr. Bhalekar's Pathology Laboratory, Navi Mumbai, India.

Published: November 2021

Dyshormonogenetic goiter is a rare cause for congenital hypothyroidism because of the lack of enzymes needed for the synthesis of thyroid hormones. They are usually treated with hormonal treatment. Cytomorphological features can lead to misdiagnosis of malignancy. Elaboration on the cytomorphological features of dyshormonogenetic goiter is scarce, with only four case reports in the literature. We present a case of a child with dyshormonogenetic goiter, highlighting its cytological features, and common differential diagnosis. We also compared cytomorphologic features with other cases reported in the literature.

Download full-text PDF

Source
http://dx.doi.org/10.1002/dc.24836DOI Listing

Publication Analysis

Top Keywords

dyshormonogenetic goiter
16
cytomorphological features
8
cytomorphologic analysis
4
dyshormonogenetic
4
analysis dyshormonogenetic
4
goiter
4
goiter dyshormonogenetic
4
goiter rare
4
rare congenital
4
congenital hypothyroidism
4

Similar Publications

Looking Beyond Thyroid Malignancy: An Unusual Case of Dyshormonogenetic Goiter in Rural India.

Cureus

August 2024

Pathology, Ashwini Sahakari Rugnalaya Ani Sanshodhan Kendra, Solapur, IND.

Dyshormonogenetic goiter (DG) is a rare cause of congenital hypothyroidism (CH) occurring due to the lack of enzymes necessary for thyroid hormone synthesis. If left untreated, it impairs hormone production leading to developmental and metabolic complications. Morphologically, it is characterized by architectural and cellular pleomorphism that may mimic thyroid malignancy causing difficulties in diagnosis.

View Article and Find Full Text PDF

Dyshormonogenesis (DG) is the failure of thyroid hormone production due to a defect in thyroid hormonogenesis. Loss-of-function mutations in the thyroglobulin () gene are a cause of DG, leading to gland stimulation by thyroid-stimulating hormone (TSH), resulting in goiter. We report a mitotically active follicular nodule in an 11-year-old female with a novel mutation in the gene.

View Article and Find Full Text PDF

Congenital hypothyroidism and thyroid cancer.

Endocr Relat Cancer

September 2021

Department of Bioregulation, Health & Science Institute, Thyroid Study Laboratory, Federal University of Bahia, Salvador, Brazil.

Differentiated thyroid carcinoma (DTC) combined with congenital hypothyroidism (CH) is a rare situation, and there is no well-established causal relationship. CH is a common congenital endocrine, while DTC occurring in childhood represents 0.4-3% of all malignancies at this stage of life.

View Article and Find Full Text PDF

Cytomorphologic analysis of dyshormonogenetic goiter.

Diagn Cytopathol

November 2021

Dr. Bhalekar's Pathology Laboratory, Navi Mumbai, India.

Dyshormonogenetic goiter is a rare cause for congenital hypothyroidism because of the lack of enzymes needed for the synthesis of thyroid hormones. They are usually treated with hormonal treatment. Cytomorphological features can lead to misdiagnosis of malignancy.

View Article and Find Full Text PDF

Introduction: It is rare for a euthyroid mother to carry a child with a fetal goiter. However, cases of congenital hypothyroidism (CH) caused by thyroid dyshormonogenesis have been reported. Even though gene mutations associated with fetal goiter have been reported in a few studies, the effects on intellectual development have not been investigated.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!