Results 91 to 100 of about 615,625 (251)

Intelligence Quotient at the Age of Six years of Iranian Children with Congenital Hypothyroidism

Indian Pediatrics, 2018
ObjectiveTo evaluate the success rate of the National newborn screening program in maintenance of intelligent quotient (IQ) of children with congenital hypothyroidism in Iran.DesignRetrospective cohort study.MethodsThe IQ scores, in three subsets of ...
K. Rahmani, S. Yarahmadi, K. Etemad, Y. Mehrabi, Nasrin Aghang, A. Koosha, H. Soori   +6 more
semanticscholar   +1 more source

Pituitary Macroadenoma Secondary to Congenital Hypothyroidism With Growth Failure and Developmental Delay: A Rare Presentation [PDF]

, 2023
Sham Lohiya, Chitturi Venkata Sai Akhil, Shubhangi Patil Ganvir, Richa Chaudhary, Jayant Vagha   +4 more
openalex   +1 more source

A Rare Neonatal Case of 48,XXYY Syndrome Presenting With Ambiguous Genitalia and Tetralogy of Fallot

Clinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT Neonatal 48,XXYY syndrome can present with both ambiguous genitalia and Tetralogy of Fallot, a striking and previously unreported association. This case broadens the phenotypic spectrum and underscores the importance of integrating genetic and cardiac evaluation in all neonates with disorders of sex development.
Nour Gazzaz
wiley   +1 more source

Specific and Non-Specific Thalamocortical Afferents to the Whisker–Related Sensory Cortical Region in Rats with Congenital Hypothyroidism [PDF]

Journal of Kerman University of Medical Sciences, 2015
Background & Aims: Thyroid hormones are of great importance in the development of the central nervous system. Congenital hypothyroidism may affect the reorganization of specific and non-specific thalamocortical afferents to whisker–related sensory (wS1 ...
Mohammad-Reza Afarinesh, Gila Behzadi
doaj  

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

Triage and care for women with symptoms or diagnosis of pregnancy loss between 14 + 0 and 21 + 6 weeks' gestation

International Journal of Gynecology &Obstetrics, Volume 172, Issue 1, Page 25-50, January 2026.
Abstract Mid‐trimester pregnancy loss (MTL), defined as a pregnancy loss occurring between 14 + 0 and 21 + 6 weeks of gestation, causes significant physical and emotional distress to women and presents clinical challenges to healthcare professionals. It is acknowledged that in low‐resource settings, this guideline might be applicable to births up to 28 
Caroline E. Fox, Rosinder Kaur, Kugajeevan Vigneswaran, Rachel Small, Jenny Carter, Keelin O'Donoghue, Alexander E. P. Heazell, Anna L. David, Nigel Simpson, Angharad Care, Lisa Starrs, Andrew Shennan, Catalina María Valencia González, Priya Soma‐Pillay, Leah Fitzsimmons, Adam J. Devall, Arri Coomarasamy, Mid‐trimester Pregnancy Loss Guideline Consensus Panel, Owen Arthurs, Ruth Bender‐Atik, Phil Bennett, Kirstien Boelaert, Elizabeth Bonney, Leanna Brace, Naomi Carlisle, Davide Casagrandi, Manju Chandiramani, Carolyn Chiswick, Alexandra Emms, Stella Fielder, James Goadsby, Laura Goodfellow, Jim Gray, Jemma Johns, Emma Kirk, Will Lester, Sophie Mackay, Maria Memtsa, Katie Morris, Sunbal Mukhtar, Naimah Raza, Rita Sarquis, Neil Sebire, Lucy Smith, Lucy Spencer, Amos Tetteh, Natalie Woodhead   +46 more
wiley   +1 more source

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

A Multisystem Perspective of Pediatric Cell Trafficking Disorders: Within the Cells, Beneath the Signs

JIMD Reports, Volume 67, Issue 1, January 2026.
ABSTRACT Cell trafficking disorders(CTDs) are rare, heterogeneous inherited conditions marked by impaired intracellular transport mechanisms such as vesicular trafficking, cytoskeletal dynamics, and organelle interactions. Although clinical awareness is increasing, CTDs are often underdiagnosed due to phenotypic overlap with mitochondrial, lysosomal ...
Merve Yoldaş Çelik, Burcu Köşeci, Ezgi Burgaç, Kanay Yararbaş, Tamer Çelik, Esra Sarıgeçili, Habibe Koç Uçar   +6 more
wiley   +1 more source

Genotype–Phenotype Correlations in Klinefelter and Turner Syndrome: A Decade of Sex Chromosome Aneuploidy Data From a Single Academic Medical Center

Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
To understand the relationship between genotype and phenotype in sex chromosome aneuploidies, retrospective cytogenetic and clinical data was collected for Klinefelter Syndrome (n = 57) and Turner Syndrome (n = 92) cases from a single academic medical center from 2013 to 2022. The cohorts were divided into subcategories based on the genotype.
Stephanie A. Hart, Joel A. Morales‐Rosado, Xinxiu Xu, Ashwini K. Yenamandra   +3 more
wiley   +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