Results 51 to 60 of about 50,114 (246)
Central Hypothyroidism Related to Pituitary Adenomas: Low Incidence of Central Hypothyroidism in Patients With Acromegaly [PDF]
The Journal of Clinical Endocrinology & Metabolism, 2019 AbstractContextThe most frequent cause of central hypothyroidism (CeH) is pituitary adenomas, but the mechanisms remain unclear.ObjectiveWe investigated serum thyroid levels and GH/IGF-1 in central hypothyroidism in untreated patients with pituitary nonfunctioning and GH-secreting adenomas.DesignThis was a retrospective cross-sectional study of cases ...
Tetsuya Takamizawa +12 more
openaire +2 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal recessive loss‐of‐function variants in PPP1R13L cause an ultra‐rare cardiocutaneous syndrome characterized by rapidly progressive arrhythmogenic cardiomyopathy (ACM). PPP1R13L encodes iASPP, which has two potentially overlapping mechanisms driving ACM as both a regulator of NFκB‐mediated inflammation and a binding partner within the ...
Aaron Renberg +9 more
wiley +1 more source
Dynamic changes of central thyroid functions in the management of Cushing's syndrome
Archives of Endocrinology and Metabolism, 2018 Objective The aim of this study was to determine the frequency of central thyroid dysfunctions in Cushing's syndrome (CS). We also aimed to evaluate the frequency of hyperthyroidism due to the syndrome of the inappropriate secretion of TSH (SITSH), which
Sema Ciftci Dogansen +4 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli +18 more
wiley +1 more source
Central Hypothyroidism With Oxcarbazepine Therapy
Pediatric Neurology, 2006 Abnormalities in thyroid function with the use of several antiepileptic medications are thought to result from increased metabolism of thyroid hormone and interference with the hypothalamic-pituitary axis. Oxcarbazepine was developed to attempt to reduce the side effects that have traditionally been observed with antiepileptic drugs that induce the ...
Department of Pediatrics, Division of Endocrinology, University of Florida College of Medicine, Gainesville, Florida ( host institution ) +2 more
openaire +3 more sources
Recent advances in central congenital hypothyroidism [PDF]
Journal of Endocrinology, 2015 Central congenital hypothyroidism (CCH) may occur in isolation, or more frequently in combination with additional pituitary hormone deficits with or without associated extrapituitary abnormalities. Although uncommon, it may be more prevalent than previously thought, affecting up to 1:16 000 neonates in the Netherlands.
Schoenmakers, Nadia +3 more
openaire +3 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo +3 more
wiley +1 more source
Congenital nystagmus and central hypothyroidism
International Journal of Pediatric Endocrinology, 2015 We observed a male newborn with bilateral nystagmus and central hypothyroidism without hypoprolactinemia due to a deletion of chromosome band Xq26.1q26.2, containing FRMD7 and IGSF1. These two loss-of function mutations are known to cause, respectively, congenital nystagmus and the ensemble of central hypothyroidism, hypoprolactinemia and testicular ...
Reynaert, Nele +2 more
openaire +3 more sources
Mutations in IRS4 are associated with central hypothyroidism [PDF]
Yearbook of Paediatric Endocrinology, 2018 Background Four genetic causes of isolated congenital central hypothyroidism (CeH) have been identified, but many cases remain unexplained. We hypothesised the existence of other genetic causes of CeH with a Mendelian inheritance pattern. Methods We
Heinen, C.A. +12 more
openaire +4 more sources
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro +5 more
wiley +1 more source