Results 81 to 90 of about 208,465 (197)

Denys‐Drash Syndrome by WT1 Gene: Clinical Variability and Management Challenges in Two Saudi Infants

Case Reports in Endocrinology, Volume 2026, Issue 1, 2026.
Background Denys‐Drash syndrome (DDS) is a rare genetic disorder characterized by mutations in the Wilms tumor suppressor gene (WT1), leading to a triad of conditions including nephrotic syndrome progressing to end‐stage renal disease (ESRD), Wilms tumor, and ambiguous genitalia.
Waleed AL-Amoudi, Raghad Alhuthil, Abdulrahman Alnwiji, Megren S. Alqarni, Sarah Murad, Afaf Alsagheir, Kalyani Sen   +6 more
wiley   +1 more source

Familial Congenital Hypothyroidism due to Compound Heterozygous Variants in the TPO Gene: Neonatal Diagnosis, Phenotypic Variability, and Lessons From Long‐Term Follow‐Up in Three Brothers

Case Reports in Genetics, Volume 2026, Issue 1, 2026.
Dyshormonogenesis accounts for 15%–20% of permanent congenital hypothyroidism (CH), and pathogenic variants in the thyroid peroxidase (TPO) gene are its most frequent cause. We report three brothers, all diagnosed with severe CH in the neonatal period and referred to our Medical Genetics Unit in 2021 for molecular characterization and genetic ...
Mody Diop, Roosler Billy Telcide, Narcisse Elenga, Neetu Rawal   +3 more
wiley   +1 more source

Aberrant Thyroid in the Parapharyngeal Space

Bengal Journal of Otolaryngology and Head Neck Surgery, 2018
Introduction Aberrant thyroid is a mass of tissue having the structure of a normal or pathological thyroid gland and situated at some definite distance from normal thyroid, with which it has no connection.
Sharanabasappa Rudragouda Malipatil, Ciju K George, Isha Vidisha, Ravindrakumar Ningappa Karadi   +3 more
doaj  

Mutations in the gene encoding paired box domain (PAX8) are not a frequent cause of congenital hypothyroidism (CH) in Iranian patients with thyroid dysgenesis

, 2010
OBJECTIVE: Congenital hypothyroidism (CH) may be caused by defects in the thyroid or in one of the stages in the synthesis of thyroid hormones. Thyroid dysgenesis may be associated with mutation in the paired box transcription factor 8 (PAX8) gene.
Frouzandeh Mahjoubi, Mahin Hashemipour, Mona Malek Mohammadi, Maryam Montazeri, Masoud Aminii   +4 more
core   +1 more source

Congenital hypothyroidism screening program in Turkey: a local evaluation

The Turkish Journal of Pediatrics, 2012
It was aimed to evaluate the national congenital hypothyroidism program in terms of thyroid-stimulating hormone (TSH) cut-off level, frequency of cases that required treatment and the stages before treatment in the Kocaeli district area.
Yusuf Kuşdal, Gül Yeşiltepe-Mutlu, Elif Özsu, Filiz Mine Çizmecioğlu, Şükrü Hatun   +4 more
doaj  

Global Notch pathway perturbations as a novel model of thyroid dysgenesis in Zebrafish

, 2012
Global Notch pathway perturbations as a novel model of thyroid dysgenesis in ...
ARGENTON, FRANCESCO, Benato F., deFilippis T., TISO, NATASCIA, Persani L., Marelli F., Porazzi P.   +6 more
core  

Unilateral thyroid dysgenesis in Wistar/ST rats.

, 2019
(A) Gross features of the thyroid glands in Wistar/ST rats. In this case, the left lobe and isthmus of the thyroid gland is absent, and the parathyroid glands are localized alongside the trachea (arrowhead). TC: thyroid cartilage, TG: thyroid glands, Tr:
Hideki Hattori (7325933), Ken-ichi Nagasaki (5130728), Yuji Sunden (251928), Yaser Hosny Ali Elewa (5130725), Yasuhiro Kon (58978), Teppei Nakamura (466554), Osamu Ichii (339354), Tomoji Yoshiyasu (7325930), Osamu Tatsumi (5130731)   +8 more
core   +1 more source

Absence of sonic hedgehog mutations in a large cohort of children with thyroid dysgenesis

, 2008
Thyroid dysgenesis accounts for 75% of all cases of congenital hypothyroidism (CH), and includes thyroid agenesis or hemiagenesis, thyroid hypoplasia, and thyroid ectopy.
R. Gastaldi, M. Muzza, R. Lorini, L. Fugazzola, T. de Filippis, P. Beck-Peccoz, G. Weber, L. Persani   +7 more
core   +1 more source

Ectopic Thyroid Tissue in Submandibular Region

MAMC Journal of Medical Sciences, 2019
Ectopic thyroid is the presence of gland at any location except for its normal position in the anterior neck in front of the trachea. It may result from an early arrest of migration or migration along an abnormal path.
Rahul Karna, Jyoti Kumar, BT Srividya, Anjali Prakash, Ishwar Singh, Anju Garg   +5 more
doaj   +1 more source

Whole-Exome Sequencing in Congenital Hypothyroidism Due to Thyroid Dysgenesis. [PDF]

Thyroid, 2022
Larrivée-Vanier S, Jean-Louis M, Magne F, Bui H, Rouleau GA, Spiegelman D, Samuels ME, Kibar Z, Van Vliet G, Deladoëy J.   +9 more
europepmc   +1 more source