Results 111 to 120 of about 630,874 (291)

Congenital hypothyroidism: insights into pathogenesis and treatment

International Journal of Pediatric Endocrinology, 2017
Congenital hypothyroidism occurs in approximately 1 in 2000 newborns and can have devastating neurodevelopmental consequences if not detected and treated promptly.
Christine E. Cherella, Ari J. Wassner
semanticscholar   +1 more source

Prevalence of Congenital Hypothyroidism and Some Related Factors in Newborn Infants in Southern Kerman from April to March 2009

مجله اپیدمیولوژی ایران, 2019
Background and Objectives: Congenital hypothyroidism is one of the reasons for mental retardation and premature death of infants. Since identification of the determinants of hypothyroidism plays a significant role in its prevention, this study was ...
F Amiri, H Sharifi, E Ghorbani, FS Mirrashidi, M Mirzaee, N Nasiri   +5 more
doaj  

PIK3C2A‐Related Clinical Phenotype and Cellular Charaterization Linked to Functional SHH Primary Cilia Defect

Clinical Genetics, Volume 108, Issue 6, Page 696-707, December 2025.
Trio exome sequencing allowed the identification of two novel compound heterozygous variants in PIK3C2A, defining the fifth family presenting a PIK3C2A‐related syndrome characterized by pulverulent cataracts and deafness. Functional testing revealed impaired PI metabolism and primary dysfunction phenotype.
Adella Karam, Clarisse Delvallée, Bénédicte Gérard, Elodie Javey, Pascal Kessler, Valérie Pelletier, Jean‐Baptiste Lamouche, Nicolas Le May, Jean Muller, Hélène Dollfus   +9 more
wiley   +1 more source

Developmental Skills of Children with and Without Congenital Hypothyroidism

Iranian South Medical Journal, 2020
Background: Congenital hypothyroidism is one of the most common endocrinology diseases in children. Given the importance of evaluating the normal growth and development and identifying growth and development abnormalities, this study aimed to evaluate ...
Belghes Rovshan, Afagh Hassanzadeh Rad, Satila Dalili, Ali Reza Gholi Famian   +3 more
doaj  

Congenital Hypothyroidism Screening in Term Neonates using Umbilical Cord Blood TSH Values

Indian journal of endocrinology and metabolism, 2018
Congenital hypothyroidism remains one of the most common preventable causes of mental retardation among children. Screening for congenital hypothyroidism remains one of the most cost-effective tools to prevent mental retardation in the population ...
R. Bhatia, Dinesh Rajwaniya
semanticscholar   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Neonatal screening: 9% of children with filter paper thyroid‐stimulating hormone levels between 5 and 10 μIU/mL have congenital hypothyroidism

Jornal de Pediatria (Versão em Português), 2017
Objectives: To determine the prevalence of congenital hypothyroidism in children with filter paper TSH levels (f‐TSH) between 5 and 10 μUI/mL in the neonatal screening. Methods: This was a retrospective study including children screened from 2003 to 2010,
Flávia C. Christensen‐Adad, Carolina T. Mendes‐dos‐Santos, Maura M.F. Goto, Letícia E. Sewaybricker, Lília F.R. D'Souza‐Li, Gil Guerra‐Junior, André M. Morcillo, Sofia Helena V. Lemos‐Marini   +7 more
doaj   +1 more source

Identifying sex‐ and gender‐specific endocrinological, lifestyle, psychosocial, and socio‐cultural targets for Alzheimer's disease prevention in Africans: The Female Brain Health and Endocrine Research in Africa (FemBER‐Africa) project

Alzheimer's &Dementia, Volume 21, Issue 11, November 2025.
Abstract Dementia rates are rising globally, with the burden increasing most rapidly in low‐ to middle‐income countries. Despite this, research into Alzheimer's disease and related dementias (ADRD) among African populations remains limited, with existing models based on Western cohorts that overlook sex‐, gender‐, and ancestry‐specific factors.
Chinedu T. Udeh‐Momoh, Benard Aliwa, Lukoye Atwoli, Karen Blackmon, Edna Bosire, Samuel Gitau, Harrison Kaleli, Ciru Kamanda, Linda Khakali, Rachel Maina, Peter Mativo, Sylvia Mbugua, Zul Merali, Kendi Muchungi, Nyambura Njogu, Douglas Nyankira, Violet Okech, Alice Ondieki, Catherine Onyancha, Stanley O. Onyango, Jasmit Shah, Sheena Shah, Cynthia Smith, Dilraj Sokhi, Sheila Waa, Sarah Gregory, Tanisha G. Hill‐Jarrett, Dimitra Kafetsouli, Michelle M. Mielke, Graciela Muniz‐Terrera, Alina Solomon, Thomas Thesen, Elena Tsoy, Anusha Yasoda‐Mohan, Jennifer S. Yokoyama, Tamlyn J. Watermeyer   +35 more
wiley   +1 more source

The congenital hypothyroidism: the incidence and clinical features of different forms

Mìžnarodnij Endokrinologìčnij Žurnal, 2017
Background. Congenital hypothyroidism (CH) as the most common hereditary thyroid pathology is a serious social, economic and psychological burden for a family, where the sick child was born, as well as for the society.
T.V. Sorokman
doaj   +1 more source

Ten-Year Longitudinal Study of Thyroid Function in Children with Down's Syndrome [PDF]

, 2014
Background/Aims: The natural history of thyroid function in children with Down's syndrome is relatively unknown. We hypothesized that in these patients the occurrence of thyroid dysfunction rises during development. Methods: Thyroid function was assessed
Bedogni G, Biagioni O, Bozzola M., BRUZZI, Patrizia, Garavelli L, IUGHETTI, Lorenzo, Madeo SF, PREDIERI, Barbara, PREDIERI, Flavia, Vellani G   +9 more
core   +1 more source