Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR [PDF]
Endocrine Connections, 2019 Aim: Congenital hypopituitarism has an incidence of 1:3500–10,000 births and is defined by the impaired production of pituitary hormones. Early diagnosis has an impact on management and genetic counselling.
Marilena Nakaguma +12 more
doaj +4 more sources
Congenital hypopituitarism due to novel compound heterozygous POU1F1 gene mutation: A case report and review of the literature [PDF]
Molecular Genetics and Metabolism Reports, 2021 Failure to thrive is one of the most common complaints in the endocrinology and genetics clinic. An 8-month-old girl with presentation of motor developmental delay, failure to thrive, and midline facial defects, with history of hypoglycemia at birth and ...
Wei-Yu Chen +3 more
doaj +3 more sources
Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome [PDF]
Italian Journal of Pediatrics, 2022 Background Cat eye syndrome (CES) is a rare chromosomal disease, with estimated incidence of about 1 in 100,000 live newborns. The classic triad of iris coloboma, anorectal malformations, and auricular abnormalities is present in 40% of patients, and ...
Gregorio Serra +12 more
doaj +4 more sources
Congenital hypopituitarism: how to select the patients for genetic analyses [PDF]
Italian Journal of Pediatrics, 2018 Aim of this commentary is to analyze the relationships between genotypic bases and phenotypic expression of congenital “multiple pituitary hormone deficiency” (MPHD) syndrome and to indicate some reliable criteria for selecting the patients who should ...
Giuseppe Crisafulli +5 more
doaj +4 more sources
Congenital Hypopituitarism due to POU1F1 Gene Mutation
Journal of the Formosan Medical Association, 2011 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.
Ni-Chung Lee +5 more
doaj +4 more sources
Evidence That the Etiology of Congenital Hypopituitarism Has a Major Genetic Component but Is Infrequently Monogenic [PDF]
Frontiers in Genetics, 2021 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)
Youn Hee Jee +14 more
doaj +2 more sources
[Congenital hypopituitarism with monosomy of chromosome 18]. [PDF]
Probl Endokrinol (Mosk), 2021 Congenital hypopituitarism is a rare disease. It can be caused by isolated inborn defects of the pituitary, gene mutations (PROP1, PIT1), and chromosomal abnormalities.Deletions of chromosome 18 (De Grouchy syndrome types 1 and 2) are a group of rare genetic diseases with a frequency of 1:50,000.
Bolmasova AV +5 more
europepmc +4 more sources
Abnormal cognitive function in treated congenital hypopituitarism [PDF]
Archives of Disease in Childhood, 2004 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 ...
Kenneth N. Brown
openalex +5 more sources
Congenital hypopituitarism and renal failure
Indian Journal of Endocrinology and Metabolism, 2011 Congenital hypopituitarism is potentially fatal in the newborn period but treatable if the diagnosis is made early. We report a neonate who presented with hypothermia and severe hypoglycemia. He also had undescended testis and micropenis.
Gaurav Atreja, Porus Bustani
doaj +3 more sources
Congenital Hypopituitarism During the Neonatal Period: Epidemiology, Pathogenesis, Therapeutic Options, and Outcome [PDF]
Frontiers in Pediatrics, 2021 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.
Laura Bosch i Ara +3 more
doaj +2 more sources