Congenital Hypopituitarism in Neonates

Patients with congenital hypopituitarism are born without normal production of 1 or more of the hormones normally produced in the pituitary gland. The clinical spectrum varies widely; although a number of genetic causes are known, most cases are thought to be idiopathic. Mutations in transcription factors involved in various stages of pituitary development can lead to combined pituitary hormone deficiencies. Many clinical signs and symptoms of congenital hypopituitarism are nonspecific and include poor weight gain, hypoglycemia, jaundice, and cholestasis; examination findings include midline defects. Diagnosis should include cranial imaging with magnetic resonance imaging, as well as laboratory evaluation for pituitary hormone deficits. Hormone replacement should be initiated after the diagnoses of deficiencies are confirmed.

• Publication year

  2018

• Venue

  NeoReviews

• Publication date

  2018-11-30

• Fields of study

  Medicine

• Identifiers
  DOI 10.1542/NEO.19-12-E742
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar

• No claims are published for this paper.

• No concepts are published for this paper.

• Congenital Hypopituitarism.

  2018cited by this paper
• Congenital hypothyroidism: insights into pathogenesis and treatment

  2017cited by this paper
• Pituitary Stalk Interruption Syndrome: From Clinical Findings to Pathogenesis

  2017cited by this paper
• A newborn with combined pituitary hormone deficiency developing shock and sludge

  2017cited by this paper
• Brain Malformations Do Not Predict Hypopituitarism in Young Children with Optic Nerve Hypoplasia

  2017cited by this paper
• Guidelines for Growth Hormone and Insulin-Like Growth Factor-I Treatment in Children and Adolescents: Growth Hormone Deficiency, Idiopathic Short Stature, and Primary Insulin-Like Growth Factor-I Deficiency

  2016cited by this paper
• Molecular spectrum of TSHβ subunit gene defects in central hypothyroidism in the UK and Ireland

  2016cited by this paper
• Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.

  2016cited by this paper
• Congenital hypothyroidism: recent advances

  2015cited by this paper
• Recent advances in central congenital hypothyroidism

  2015cited by this paper
• Thyroid function in critically ill patients.

  2015cited by this paper
• Inherited defects of thyroxine-binding proteins.

  2015cited by this paper
• Recommendations from the Pediatric Endocrine Society for Evaluation and Management of Persistent Hypoglycemia in Neonates, Infants, and Children

  2015cited by this paper
• Screening for congenital hypothyroidism: a worldwide view of strategies.

  2014cited by this paper
• Cross-reactivity of steroid hormone immunoassays: clinical significance and two-dimensional molecular similarity prediction

  2014cited by this paper
• Guidelines for the Treatment of Hypothyroidism: Prepared by the American Thyroid Association Task Force on Thyroid Hormone Replacement

  2014cited by this paper
• Childhood Growth Hormone Deficiency and Hypopituitarism

  2013cited by this paper
• Congenital Hypothyroidism Treatment in Infants: A Comparative Study between Liquid and Tablet Formulations of Levothyroxine

  2013cited by this paper
• Comparison between liquid and tablet formulations of levothyroxine in the initial treatment of congenital hypothyroidism.

  2013cited by this paper
• Measuring growth hormone and insulin-like growth factor-I in infants: what is normal?

  2013cited by this paper
• Optic Nerve Hypoplasia Syndrome: A Review of the Epidemiology and Clinical Associations

  2013cited by this paper
• Genetic disorders of the pituitary

  2012cited by this paper
• The use of neuroimaging for assessing disorders of pituitary development

  2012cited by this paper
• Clinical importance of hypothyroxinemia in the preterm infant and a discussion of treatment concerns

  2012cited by this paper
• Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement

  2012cited by this paper
• Phenotypic homogeneity and genotypic variability in a large series of congenital isolated ACTH-deficiency patients with TPIT gene mutations.

  2012cited by this paper
• Postnatal Glucose Homeostasis in Late-Preterm and Term Infants

  2011cited by this paper
• Neonatal cholestasis in congenital pituitary hormone deficiency and isolated hypocortisolism: characterization of liver dysfunction and follow-up.

  2011cited by this paper
• Holoprosencephaly: recommendations for diagnosis and management

  2010cited by this paper
• Neonatal Thyroid Function

  2010cited by this paper
• Genetic forms of hypopituitarism and their manifestation in the neonatal period.

  2009cited by this paper
• Genetic regulation of pituitary gland development in human and mouse.

  2009cited by this paper
• Poor Specificity of Low Growth Hormone and Cortisol Levels During Fasting Hypoglycemia for the Diagnoses of Growth Hormone Deficiency and Adrenal Insufficiency

  2008cited by this paper
• Adrenal Insufficiency: Still a Cause of Morbidity and Death in Childhood

  2007cited by this paper
• Diabetes insipidus: clinical and basic aspects.

  2006cited by this paper
• Low Estriol Levels in the Maternal Triple-Marker Screen as a Predictor of Isolated Adrenocorticotropic Hormone Deficiency Caused by a New Mutation in the TPIT Gene

  2006cited by this paper
• Anterior pituitary hormone effects on hepatic functions in infants with congenital hypopituitarism.

  2006cited by this paper
• Update of Newborn Screening and Therapy for Congenital Hypothyroidism

  2006cited by this paper
• Endocrine Disorders Associated with Holoprosencephaly

  2005cited by this paper
• The role of growth hormone in determining birth size and early postnatal growth, using congenital growth hormone deficiency (GHD) as a model

  2005cited by this paper
• Clinical Effectiveness and Cost-Effectiveness of the Use of the Thyroxine/Thyroxine-Binding Globulin Ratio to Detect Congenital Hypothyroidism of Thyroidal and Central Origin in a Neonatal Screening Program

  2005cited by this paper
• Diagnosis of Adrenal Insufficiency

  2003cited by this paper
• Growth Hormone Deficiency (GHD) from Birth to 2 Years of Age: Diagnostic Specifics of GHD during the Early Phase of Life

  2003cited by this paper
• Health care--associated bloodstream infections.

  2003cited by this paper
• Molecular basis of combined pituitary hormone deficiencies.

  2002cited by this paper
• A pituitary cell-restricted T box factor, Tpit, activates POMC transcription in cooperation with Pitx homeoproteins.

  2001cited by this paper
• Cholestatic jaundice and congenital hypopituitarism

  1995cited by this paper
• Empty sella in children and adolescents with possible hypothalamic-pituitary disorders.

  1994cited by this paper
• Hypopituitarism and stalk agenesis: a congenital syndrome worsened by breech delivery?

  1991cited by this paper
• High incidence of perinatal insult in children with idiopathic hypopituitarism.

  1980cited by this paper
• Serum Prolactin Levels in Humans from Birth to Adult Life

  1973cited by this paper
• Penis and testicular size in patients with growth hormone insufficency.

  1970cited by this paper
• Journal of Clinical Endocrinology and Metabolism Printed in U.S.A. Copyright © 1997 by The Endocrine Society A Novel Mechanism for Isolated Central Hypothyroidism: Inactivating Mutations in the Thyrotropin-Releasing Hormone Receptor Gene*

  year unknowncited by this paper

• Recurrent Hypoglycaemia Leading to Early Diagnosis of Septo‐Optic Dysplasia in a Small‐for‐Gestational‐Age Infant—A Case Report

  2026cites this paper
• Identification of POU1F1 Variants in Vietnamese Patients with Combined Pituitary Hormone Deficiency

  2025cites this paper
• Compound heterozygous ROBO1 gene variants in a neonate with congenital hypopituitarism, dysmorphic features and midline abnormalities: a case report and review of the literature

  2025cites this paper
• A Neonate with a Rare Presentation of Persistent Hypoglycemia and Prolonged Jaundice.

  2023cites this paper
• Management of Neonatal Isolated and Combined Growth Hormone Deficiency: Current Status

  2023cites this paper
• Patent ductus arteriosus in a late preterm neonate: think congenital hypopituitarism

  2022cites this paper
• A Case of Persistent Hypoglycemia with Disorder of Sex Development.

  2022cites this paper
• Hypothyroxinaemia in refractory shock: a clue to diagnose hypopituitarism

  2021cites this paper
• Congenital Hypopituitarism During the Neonatal Period: Epidemiology, Pathogenesis, Therapeutic Options, and Outcome

  2021cites this paper