Abstract
Two endocrine disorders, congenital hypothyroidism (CH) and congenital adrenal hyperplasia (CAH), when untreated, can have devastating, irreversible and fatal outcomes. Permanent cognitive impairment, growth failure and dysmorphic appearance are seen in congenital hypothyroidism (CH) and early infant death in males with salt wasting CAH (as most females are discovered by presence of atypical genital appearance, while males appeared normal). Newborn screening (NBS) for CH was developed with broader engagement of centers, and was more rapidly adopted throughout the US and other large or developed countries, while NBS for CAH was pioneered by relatively few and was not fully adopted in the US until the initiation of Universal Expanded Newborn Screening Panel in 2005. Advances in genetic understanding of CH and CAH continue with NBS. Cost–benefit analysis, showing CH NBS as more successful than CAH NBS, may not fully recognize the cost of a life saved with CAH NBS. Early treatment of CH is much simpler with taking a pill a day unlike CAH requiring multiple medication doses, and possibly surgery apart from enteral and parenteral stress doses during adrenal crisis. CAH management outcomes with gender identity matters in persons with atypical genital appearance and androgen effects are still being studied.
Highlights
Newborn screening (NBS) is considered one of the most successful public health programs in the United States and worldwide
Each condition included in the Recommended Universal Screening Panel (RUSP)
Congenital hypothyroidism of central origin caused by dysfunction of hypothalamic or pituitary control of thyroid axis leading to inadequate production of TSH is rare [13,30,31]
Summary
Newborn screening (NBS) is considered one of the most successful public health programs in the United States and worldwide. Since the first screening in the 1960s for a single disorder as phenylketonuria (PKU), nearly 4 million newborns in the United States are screened for 60+ disorders/conditions each year, 24 h or more after birth. In the 1960s, WHO’s Wilson and Junger’s “Principles and Practices of Screening for Disease” provided the initial framework for the first newborn PKU screening as a public health program. Technological advances such as tandem mass spectrometry (TMS) helped the American College of Medical Genetics, in 2005, update criteria for inclusiveness of more disorders as part of universal expanded screening panel. The outcomes varied; early replacement therapy spared IQ with scores ranging 64–107 when treated before 3 months, 35–96 when treated between 3 and 6 months and 25–80 when treated after 6 months [4], with similar early detection results and supporting the need for worldwide CH screening [5]
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