Genetic diagnosis of congenital hypopituitarism in Turkish patients by a target gene panel: novel pathogenic variants in GHRHR, GLI2, LHX4 and POU1F1 genes. [PDF]
Arch Endocrinol Metab, 2023 Kırkgöz T +7 more
europepmc +3 more sources
Congenital Hypopituitarism During the Neonatal Period: Epidemiology, Pathogenesis, Therapeutic Options, and Outcome. [PDF]
Front Pediatr, 2020 Introduction: Congenital hypopituitarism (CH) is characterized by a deficiency of one or more pituitary hormones. The pituitary gland is a central regulator of growth, metabolism, and reproduction.
Bosch I Ara L +2 more
europepmc +2 more sources
Cholestasis and hypoglycemia: manifestations of congenital anterior hypopituitarism. [PDF]
The Journal of Clinical Endocrinology & Metabolism, 1996 C.-C. J. Sun +2 more
openaire +4 more sources
SUN-723 CDH2 Gene Analysis in a Cohort of Patients with Congenital Hypopituitarism [PDF]
J Endocr Soc, 2020 Kertsz R +10 more
europepmc +3 more sources
Frontiers in Cardiovascular Medicine, 2021 Introduction: Hypopituitarism is a rare, often underdiagnosed, complex hormonal disease caused by the decreased secretion of one or more hormones in the pituitary gland.
Árpád Kormányos +6 more
doaj +1 more source
Isolated Fetal Sinus Bradycardia as a First Sign of Congenital Hypopituitarism. [PDF]
CJC Open, 2020 Lapointe S, Rottembourg D, Dallaire F.
europepmc +3 more sources
Homozygous CDH2 variant may be associated with hypopituitarism without neurological disorders
Endocrine Connections, 2023 Context: Congenital hypopituitarism is a genetically heterogeneous cond ition. Whole exome sequencing (WES) is a promising approach for molecular di agnosis of patients with this condition.
Nathalia G B P Ferreira +19 more
doaj +1 more source
Does visual experience influence arm proprioception and its lateralization? Evidence from passive matching performance in congenitally-blind and sighted adults [PDF]
Neuroscience Letters, 2023, 137335, pp.137335, 2023 In humans, body segments' position and movement can be estimated from multiple senses such as vision and proprioception. It has been suggested that vision and proprioception can influence each other and that upper-limb proprioception is asymmetrical, with proprioception of the non-dominant arm being more accurate and/or precise than proprioception of ...
arxiv +1 more source
Pituitary Stalk Interruption Syndrome: A Case Report
Turkish Journal of Internal Medicine, 2021 Panhypopituitarism occurs as a result of the insufficiency of all hormones produced in the anterior pituitary gland. Pituitary Stalk Interruption Syndrome (PSIS) is a rare congenital syndrome leading to hypopituitarism.
Yasemin Aydoğan Ünsal +7 more
doaj +1 more source
Auditory cortex and beyond: Deficits in congenital amusia [PDF]
Hearing Research, 2023, 437, pp.108855, 2023 Congenital amusia is a neuro-developmental disorder of music perception and production, with the observed deficits contrasting with the sophisticated music processing reported for the general population. Musical deficits within amusia have been hypothesized to arise from altered pitch processing, with impairments in pitch discrimination and, notably ...
arxiv +1 more source