Related Experiment Video

Updated: Nov 23, 2025

Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
19:15

Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale

Published on: August 25, 2014

87.0K

Current Insights Into Adrenal Insufficiency in the Newborn and Young Infant

Federica Buonocore1, Sinead M McGlacken-Byrne1, Ignacio Del Valle1

  • 1Genetics & Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.

Frontiers in Pediatrics
|December 31, 2020
PubMed

Insights

Adrenal insufficiency (AI) in children is a serious condition that requires early diagnosis. This overview focuses on genetic causes presenting in early infancy, crucial for management and family counseling.

Area of Science:

  • Pediatric Endocrinology
  • Genetics
  • Metabolic Disorders

Background:

  • Adrenal insufficiency (AI) is a critical, often underdiagnosed, pediatric condition.
  • Early signs include glucocorticoid, mineralocorticoid, or adrenal androgen deficiencies.
  • Associated features may indicate specific underlying genetic causes.

Purpose of the Study:

  • To provide an overview of childhood AI causes.
  • To emphasize genetic conditions presenting in early infancy.
  • To highlight the importance of diagnosis for management and genetic counseling.

Main Methods:

  • Literature review of childhood adrenal insufficiency.
  • Focus on genetic etiologies presenting within the first few months of life.
  • Synthesis of clinical presentations and diagnostic implications.

Main Results:

  • AI presents with diverse symptoms like hyperpigmentation, hypoglycemia, hypotension, and atypical genitalia.
  • Genetic conditions are a significant cause of AI in early infancy.
  • Timely diagnosis is essential for appropriate patient management.

Conclusions:

  • Accurate diagnosis of childhood AI, particularly genetic forms, is vital.
  • Diagnosis impacts lifelong management strategies for affected children.
  • Genetic counseling is crucial for families regarding inheritance and recurrence risks.

Keywords:
Addison's diseaseDAX-1MIRAGE syndromeadrenal hypoplasiaadrenal insufficiencycongenital adrenal hyperplasiagenetic testingglucocorticoid

More Related Videos

Fecal Glucocorticoid Analysis: Non-invasive Adrenal Monitoring in Equids08:02

Fecal Glucocorticoid Analysis: Non-invasive Adrenal Monitoring in Equids

Published on: April 25, 2016

9.9K
Measuring Cardiac Autonomic Nervous System ANS Activity in Toddlers - Resting and Developmental Challenges08:22

Measuring Cardiac Autonomic Nervous System ANS Activity in Toddlers - Resting and Developmental Challenges

Published on: February 25, 2016

15.7K

Related Concept Videos

Adrenal Gland Disorders01:27

Adrenal Gland Disorders

Adrenal gland disorders manifest when the production of adrenal hormones deviates from the norm, resulting in either excessive or insufficient concentrations.
Adrenal insufficiency, characterized by insufficient cortisol and aldosterone production, leads to conditions like Addison's disease. This disorder, affecting the adrenal cortex, exhibits symptoms such as skin bronzing, dehydration, low blood pressure, fatigue, and weight loss. Congenital adrenal hyperplasia, a genetic ailment causing...
2.5K
Hormones of the Adrenal Glands01:31

Hormones of the Adrenal Glands

Adrenal hormones play a pivotal role in maintaining the body's electrolyte balance and orchestrating responses to stress, showcasing the intricate functions of the adrenal cortex and medulla.
The adrenal cortex, a powerhouse of hormone synthesis, generates over two dozen corticosteroid hormones. The zona glomerulosa produces mineralocorticoids, exemplified by aldosterone, influencing the electrolyte composition of body fluids. The synthesis of glucocorticoids such as cortisol and...
4.0K
Anatomy of the Adrenal Glands01:17

Anatomy of the Adrenal Glands

The adrenal or supra-renal glands, situated above the kidneys and aligned with the twelfth rib, are paired pyramid-shaped structures crucial for the body's stress response. During stress, these glands secrete hormones vital for adaptive physiological reactions.
These glands possess a distinctive yellow tinge due to the stored cholesterol and fatty acids required for hormone synthesis. They are encased in a fibrous capsule and cushioned by fat.
The adrenal gland comprises two distinct...
3.6K
Drug Dosing: Infants and Children01:29

Drug Dosing: Infants and Children

Pediatric patient dosages diverge from adults due to disparities in body surface area, total body water, and extracellular fluid per kilogram of body weight. The dosing regimen considers the variations in pharmacokinetics and pharmacology across distinct age groups, encompassing preterm newborns, infants, young children, older children, and adolescents. Calculation of pediatric patient doses is predicated on determining body surface area, which exhibits a superior correlation with the child's...
109
Pharmacokinetics in Pediatric Patients: Drug Metabolism01:24

Pharmacokinetics in Pediatric Patients: Drug Metabolism

In pediatric care, understanding the nuances of hepatic drug metabolism is crucial, as it significantly differs from that of adults. This divergence is primarily due to the developmental stage of drug-metabolizing enzymes, which affects how medications are processed in the body. In neonates, for instance, the activity of Phase I enzymes—critical for the initial breakdown of drugs—is markedly reduced, functioning at just 20–40% of the levels seen in adults. This reduction poses...
90
Hypothalamic-Pituitary Axis01:37

Hypothalamic-Pituitary Axis

The response to stress—be it physical or psychological, acute or chronic—involves activation of the Hypothalamic-Pituitary-Adrenal (HPA) axis. The HPA axis is part of the neuroendocrine system because it involves both neuronal and hormonal communication. Its function is to regulate homeostatic systems—metabolic, cardiovascular, and immune—providing the necessary means to respond to a stressor.
64.3K