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 +2 more
exaly +4 more sources
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: 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 +6 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 +2 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 +2 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
Retrospective, multicentre evaluation of central congenital hypothyroidism in the UK [PDF]
European Thyroid JournalObjective: Central congenital hypothyroidism (incidence ∼1:13,000) occurs in isolation (40% cases) or with additional pituitary hormone deficiencies. T4 ± TSH-based neonatal screening detects central congenital hypothyroidism within the first two weeks ...
Catherine Peters +8 more
doaj +2 more sources
Clinical Presentation of Congenital Hypopituitarism: Lessons From a Large Academic Centre [PDF]
Clinical EndocrinologyLeena Mamilly +2 more
exaly +2 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
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