Results 71 to 80 of about 28,682 (252)

Zebrafish duox mutations provide a model for human congenital hypothyroidism

Biology Open, 2019
Thyroid dyshormonogenesis is a leading cause of congenital hypothyroidism, a highly prevalent but treatable condition. Thyroid hormone (TH) synthesis is dependent on the formation of reactive oxygen species (ROS).
Kunal Chopra, Shoko Ishibashi, Enrique Amaya   +2 more
doaj   +1 more source

Congenital iodide-induced goitre with hypothyroidism. [PDF]

, 1968
Alaaeldin Hassan, G H Aref, A. S. Kassem
openalex   +1 more source

Severe Nerve Enlargement in SOS2‐Related Noonan Syndrome

American Journal of Medical Genetics Part A, Volume 197, Issue 10, October 2025.
ABSTRACT Noonan syndrome is a genetic multisystem congenital disorder, caused by pathogenic variants in genes that encode components of the RAS/MAPK signaling pathway. Pathogenic variants in SOS2 represent less than 2% of cases with NS. The phenotype includes a particularly high prevalence (65%) of lymphatic disease. Recently, severe nerve enlargements
Erika Leenders, Fieke Draaisma, Corrie E. Erasmus, Catelijne Coppens, Lotte E. R. Kleimeier, Melanie Burgers, Tuula Rinne, Martin Zenker, Laura Mazzanti, Wesley Reintjes, Nens van Alfen, Jos M. T. Draaisma   +11 more
wiley   +1 more source

Thyroid Profile of Neonates Born to Mothers with Hypothyroidism Detected Before and During Pregnancy

Journal of Medical Sciences and Health
Introduction: Congenital hypothyroidism is a leading preventable cause of intellectual disability. This study explores whether maternal hypothyroidism provides a greater risk for congenital hypothyroidism and compares thyroid hormone levels in ...
Rhea Suzanne John, Shreedhara Avabratha, Sweta Shanbhag   +2 more
doaj   +1 more source

Less known aspects of central hypothyroidism: Part 2 – Congenital etiologies

Journal of Clinical & Translational Endocrinology, 2018
Central hypothyroidism (CH) occurs approximately in 1:50,000, and therefore is expected to be one thousand times rarer compared with primary hypothyroidism.
Salvatore Benvenga, Marianne Klose, Roberto Vita, Ulla Feldt-Rasmussen   +3 more
doaj   +1 more source

Serum thyrotrophin determination on day 5 of life as screening procedure for congenital hypothyroidism. [PDF]

, 1977
François Delange, M. Camus, M. Winkler, J Dodion, A.M. Ermans   +4 more
openalex   +1 more source

Unraveling Delayed Puberty: A Rare Case of Congenital Hypogonadotropic Hypogonadism Masked by Celiac Disease and Plummer–Vinson Syndrome

Clinical Case Reports, Volume 13, Issue 10, October 2025.
ABSTRACT Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder that results in delayed puberty and infertility due to impaired secretion of gonadotropin‐releasing hormone (GnRH). Here, we present a case of a 25‐year‐old male with a known history of Plummer–Vinson syndrome and celiac disease, who presented with the chief complaints of easy ...
Osama Ahmad, Uzma Akbar, Fatima Sajjad, Muhammad Abdullah Ali, Umama Alam, Zaryab Bacha, Jibran Ikram, Malik W. Z. Khan   +7 more
wiley   +1 more source

A Diagnostic Dilemma of Esophageal Duplication Cyst in a Patient With Rectal Cancer: A Case Report

Clinical Case Reports, Volume 13, Issue 10, October 2025.
ABSTRACT Mediastinal masses include a diverse group of entities arising from the different structures within or close to the mediastinum. We report a 60‐year‐old female with a history of rectal bleeding who was diagnosed with rectal cancer. During the staging computed tomography scan, a round hypodense mass was seen in the left upper lobe region in ...
Marzieh Rahimi, Farzaneh Mollanorouzi, Fatemeh Shahabi, Amir Hossein Jafarian, Davod Alavi, Reza Rezaei   +5 more
wiley   +1 more source

Blood-spot thyrotropin radioimmunoassay in a screening program for congenital hypothyroidism. [PDF]

, 1979
W A Sadler, C P Lynskey
openalex   +1 more source

Williams Syndrome Associated With Facial Port‐Wine Stain and Phacomatosis Pigmentovascularis: A Case Report

Clinical Case Reports, Volume 13, Issue 10, October 2025.
ABSTRACT Williams syndrome (WS) is a rare congenital multi‐systemic condition due to gene deletion. We present a rare case of co‐existence of WS, port wine stains, and phacomatosis pigmentovascularis. This case emphasizes the importance of recognizing the co‐occurrence of such conditions and WS for accurate diagnosis and management.
Bahareh Abtahi‐Naeini, Omid Yaghini, Zahra Razavi   +2 more
wiley   +1 more source