Results 71 to 80 of about 208,465 (197)

Knuckle, Knuckle, Dimple, Dimple: Do Not Miss A Diagnostic Opportunity

Clinical Case Reports, Volume 14, Issue 4, April 2026.
Archibald's metacarpal sign is characterized by dimpling over the knuckles when the fist is clenched, resulting from relative shortening of the fourth and fifth metacarpals compared with the third. ABSTRACT Turner syndrome (TS) often presents with subtle or overlooked clinical signs, contributing to frequent diagnostic delays. We describe the case of a
Maria Chiara Pellegrin, Gianluca Tamaro, Alice Fachin, Egidio Barbi, Gianluca Tornese   +4 more
wiley   +1 more source

Lingual thyroid [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2007
Lingual thyroid is a rare congenital malformation that occurs more frequently in the female population. It occurs because of the error in transcriptional factors, the key for the normal differentiation of thyrocyte, so the thyroid gland tissue does not ...
Marina Đorđe, Sajić Silvija
doaj   +1 more source

The spectrum of 45,X/46,XY mosaicism in Taiwanese children: The experience of a single center

Journal of the Formosan Medical Association, 2019
Background/Purpose: 45,X/46,XY mosaicism is a rare sex chromosome abnormality. Here, we present our experience in the management of 45,X/46,XY Taiwanese children. Patients and Methods: We enrolled 19 patients from January 1981 to September 2016.
Yen-Chun Huang, Cheng-Ting Lee, Mu-Zon Wu, Shih-Yao Liu, Yi-Ching Tung, Hong-Nerng Ho, Wen-Yu Tsai   +6 more
doaj   +1 more source

International Registry of NKX2‐1‐Related Disorders: Clinical, Genetic, and Imaging Perspectives

Movement Disorders, Volume 41, Issue 4, Page 889-900, April 2026.
Abstract Background NKX2‐1–related disorders result from heterozygous variants in NKX2‐1, a gene crucial for brain, lung, and thyroid development. Although movement disorders, hypothyroidism, and neonatal respiratory distress are recognized, the full phenotype and genotype–phenotype relationships remain incompletely defined.
Laia Nou‐Fontanet, Claudia Ravelli, Lydie Burglen, Sol Balsells Mejia, Angel Valls‐Villalba, Elies Roman Schiffels, Alice Innocenti, Beatriz Villafuerte, Ainara Salazar‐Villacorta, Vicente Quiroz, Andrea Sariego Jamardo, Giulia Bonato, Asun Díaz‐Gomez, Alexandra Afenjar, Catheline Vilain, Patricia Dumke da Silva Möller, Deyanira Garcia‐Navas Nuñez, Magdalena Krygier, Maria Judit Molnar, Łukasz Milanowski, Katrin Õunap, Micaela Pauni, Patricia Vega, Raphael Borie, Milena Villamil‐Osorio, Sanem Yilmaz, Dénes Zádori, Marta Zawadzka, Tahsin Stefan Barakat, Sebastian Neuens, Daniel de Natera‐de Benito, Dídac Casas‐Alba, Luca Soliani, Claudio M. de Gusmao, Giacomo Garone, Nicola Specchio, Miryam Carecchio, José C. Moreno, Francesca Magrinelli, Kailash P. Bhatia, Darius Ebrahimi‐Fakhari, Claudia Castiglioni, Manju Ann Kurian, João Nuno Carvalho, Roser Pons, Emmanuel Roze, Diane Doummar, Juan Darío Ortigoza‐Escobar   +47 more
wiley   +1 more source

The X Factor in Immunity: Sex Differences Shaped by the X Chromosome

Immunological Reviews, Volume 338, Issue 1, March 2026.
ABSTRACT There are sex differences with immune responses where females exhibit stronger immune responses compared to males. Both sex hormones and sex chromosome differences between males and females contribute to the observed sex differences with innate and adaptive immune cell composition and function.
Katherine B. Radovanovic, Megan Wynalda, Montserrat C. Anguera   +2 more
wiley   +1 more source

Reconstitution of rat fetal testis during the masculinisation programming window induces focal dysgenesis consistent with testicular dysgenesis syndrome

, 2020
Focal dysgenesis is a consistent feature of testicular dysgenesis syndrome (TDS) in humans. Rodent studies show that perturbation of androgens (e.g. following phthalate exposure) during a fetal masculinisation programming window (MPW) predisposes to a ...
Smart, E, Smith, LB, Mitchell, RT, Macdonald, J, Joni Macdonald, Ellie Smart, Lee B. Smith, Rod T. Mitchell   +7 more
core   +1 more source

Morphogenesis of the thyroid gland [PDF]

, 2010
International audienceCongenital hypothyroidism is mainly due to structural defects of the thyroid gland, collectively known as thyroid dysgenesis. The two most prevalent forms of this condition are abnormal localization of differentiated thyroid tissue (
Henrik Fagman, Nilsson, Mikael, Nilsson, Mikael,, Fagman, Henrik,, Mikael Nilsson, Fagman, Henrik   +5 more
core   +1 more source

Timing of thyroid ultrasonography in the etiological investigation of congenital hypothyroidism

Archives of Endocrinology and Metabolism, 2017
Objectives To describe the findings of thyroid ultrasonography (T-US), its contribution to diagnose congenital hypothyroidism (CH) and the best time to perform it.
Maria de Fátima Borges, Nathalie de Almeida Sedassari, Anelise de Almeida Sedassari, Luis Ronan Marquez Ferreira de Souza, Beatriz Pires Ferreira, Beatriz Hallal Jorge Lara, Heloísa Marcelina Cunha Palhares   +6 more
doaj   +1 more source

False Positive or False Negative—An Interesting Case in Prenatal Diagnostic Laboratory

Journal of Clinical Laboratory Analysis, Volume 40, Issue 1, January 2026.
A prenatal case in which discordant results were identified among SNP‐Array, PNBoBs, conventional karyotyping, and FISH, highlighting the importance of recognizing the limitations of various testing techniques for clinicians to avoid misdiagnosis and missed diagnosis.
Pingping Zhang, Yanmei Sun, Haishen Tian, Xuedong Shi, Limin Rong, Yali Li   +5 more
wiley   +1 more source

Genetics of primary congenital hypothyroidism: three decades of discoveries and persisting etiological challenges

European Thyroid Journal
Primary congenital hypothyroidism (CH) is the most common neonatal endocrine disorder, and may be etiologically subdivided into thyroid dysgenesis, referring to abnormal thyroid development, and dyshormonogenesis, where a defective thyroid hormone ...
Athanasia Stoupa, Aurore Carré, Michel Polak, Gabor Szinnai, Nadia Schoenmakers   +4 more
doaj   +1 more source