Clinical Presentation of Congenital Hypopituitarism: Lessons From a Large Academic Centre. [PDF]
ABSTRACT Objective Pituitary hormone deficiencies are associated with considerable morbidity, yet the variability of presentation and evolution of congenital hypopituitarism remains unexplored. This study investigated differences in presentation of congenital isolated pituitary hormone deficiency (cIPHD) versus congenital multiple pituitary hormone ...
Ladd JM+4 more
europepmc +3 more sources
Evidence That the Etiology of Congenital Hypopituitarism Has a Major Genetic Component but Is Infrequently Monogenic. [PDF]
PurposeCongenital hypopituitarism usually occurs sporadically. In most patients, the etiology remains unknown.MethodsWe studied 13 children with sporadic congenital hypopituitarism. Children with non-endocrine, non-familial idiopathic short stature (NFSS)
Jee YH+14 more
europepmc +4 more sources
Adult Cirrhosis Due to Untreated Congenital Hypopituitarism [PDF]
Hypopituitarism is a diagnosis to be considered in unexplained neonatal hepatitis.1-3 Little is known about the possibility of long-term liver damage.
M Keston Jones+4 more
openaire +4 more sources
Anterior pituitary hormone effects on hepatic functions in infants with congenital hypopituitarism
Background: Congenital hypopituitarism is an uncommon cause of neonatal cholestasis. Little is known about the effect of anterior pituitary hormone on hepatic functions.Methods: A retrospective review of the medical charts of eight infants with ...
Wikrom Karnsakul;+5 more
doaj +2 more sources
Congenital Hypopituitarism due to POU1F1 Gene Mutation
POU1F1 (Pit-1; Gene ID 5449) is an anterior pituitary transcriptional factor, and POU1F1 mutation is known to cause anterior pituitary hypoplasia, growth hormone and prolactin deficiency and various degree of hypothyroidism. We report here a patient who presented with growth failure and central hypothyroidism since early infancy.
Wen-Yu Tsai+5 more
openaire +4 more sources
Congenital hypopituitarism: Monitoring after coronary artery bypass grafting
Cardiovascular disease in patients with congenital hypopituitarism is not rare; however, there is a lack of reports referring to cardiac interventions in such patients.
Siminelakis Stavros+5 more
doaj +2 more sources
Three Japanese patients with congenital pituitary hormone deficiency and ophthalmological anomalies [PDF]
The clinical phenotype of congenital pituitary hormone deficiency is variable and can be associated with a number of structural abnormalities of the central nervous system.
Katsura, Ishizu+8 more
core +5 more sources
Abnormal cognitive function in treated congenital hypopituitarism [PDF]
To assess cognitive function in school age children with congenital pituitary hormone deficiency (PHD).Ten children with PHD (aged 6.0-15.6 years, mean 11.5 years) and sibling controls (aged 8.7-14.9 years, mean 12.1 years) were assessed using the Wechsler Intelligence Scale for Children (WISC-III UK).The patients' full scale IQ scores were all below ...
Brown K+6 more
openaire +6 more sources
Cholestasis syndrome in a newborn child with congenital hypopituitarism
The purpose of the work is comprehensive examination of a newborn with cholestasis syndrome to determine congenital hypopituitarism. Materials and methods. The child was hospitalized on the 30th day of his life. At admission, complaints were noted about the ictericity of the skin, low body weight gain, convulsive syndrome (history).
Nataliya A. Kharitonova+2 more
openaire +2 more sources
Heterozygous defects in PAX6 gene and congenital hypopituitarism [PDF]
BackgroundThe prevalence of congenital hypopituitarism (CH) attributable to known transcription factor mutations appears to be rare and other causative genes for CH remain to be identified. Due to the sporadic occurrence of CH,de novochromosomal rearrangements could be one of the molecular mechanisms participating in its etiology, especially in ...
Yukihiro Hasegawa+9 more
openaire +4 more sources