Related Experiment Video

Updated: Jun 18, 2026

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

Update: newborn screening for endocrinopathies

Kenneth A Pass1, Eurico Carmago Neto

  • 1Wadsworth Center, NYS Department of Health, Albany, NY 12201-2002, USA. kpass@wadsworth.org

Endocrinology and Metabolism Clinics of North America
|December 1, 2009
PubMed

Insights

Newborn screening (NBS) for congenital hypothyroidism and congenital adrenal hyperplasia is vital due to their high incidence and treatable nature. This review covers their history, detection methods, genetics, and outcomes.

Area of Science:

  • Medical Genetics
  • Endocrinology
  • Public Health

Background:

  • Congenital hypothyroidism and congenital adrenal hyperplasia are key targets for newborn screening (NBS).
  • These conditions have high incidence and effective treatments, making NBS crucial for preventing long-term health issues.
  • NBS programs worldwide, including all US state programs, incorporate these conditions.

Purpose of the Study:

  • To review the history of NBS for congenital hypothyroidism and congenital adrenal hyperplasia.
  • To discuss the technologies and protocols used for detecting these conditions.
  • To explore related aspects including genetics, treatment, and patient outcomes.

Main Methods:

  • Literature review of historical data and current practices in NBS.
  • Analysis of detection technologies and protocols for congenital hypothyroidism and congenital adrenal hyperplasia.
  • Synthesis of information on genetics, treatment strategies, and outcomes.

Main Results:

  • Established history and rationale for including these conditions in NBS panels.
  • Overview of various detection technologies and protocols.
  • Discussion of genetic factors, therapeutic interventions, and long-term outcomes.

Conclusions:

  • Newborn screening for congenital hypothyroidism and congenital adrenal hyperplasia is well-established and essential.
  • Technological advancements continue to improve detection accuracy and efficiency.
  • Understanding genetics, treatment, and outcomes is critical for optimizing NBS programs.

More Related Videos

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure09:28

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure

Published on: June 25, 2010

Monitoring Blood Glucose in Mouse Offspring After Intracytoplasmic Sperm Injection06:11

Monitoring Blood Glucose in Mouse Offspring After Intracytoplasmic Sperm Injection

Published on: May 17, 2024

Related Concept Videos

Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
Pathophysiology of Diabetes01:20

Pathophysiology of Diabetes

Diabetes mellitus is a chronic metabolic disorder characterized by hyperglycemia. The four categories of diabetes are type 1 diabetes, type 2 diabetes, other specific types of diabetes, and gestational diabetes.
Type 1 diabetes is characterized by autoimmune-mediated destruction of pancreatic β cells, with environmental factors potentially triggering this process in genetically susceptible individuals. Despite many not having a family history, certain genes increase susceptibility, suggesting a...
Teratogenicity01:07

Teratogenicity

The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...
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 a challenge in...
Endocrine Signaling01:45

Endocrine Signaling

Endocrine cells produce hormones to communicate with remote target cells found in other organs. The hormone reaches these distant areas using the circulatory system. This exposes the whole organism to the hormone but only those cells expressing hormone receptors or target cells are affected. Thus, endocrine signaling induces slow responses from its target cells but these effects also last longer.
Smooth Endoplasmic Reticulum01:21

Smooth Endoplasmic Reticulum

Smooth endoplasmic reticulum or smooth ER is a sub-organelle with specialized functions in animal cells and plant cells. It is often associated with the tubule morphology of the endoplasmic reticulum.
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...