Newborn Screening in Pediatric Endocrine Disorders

Two endocrine disorders, congenital hypothyroidism (CH) and adrenal hyperplasia (CAH), when untreated, can have devastating, irreversible fatal outcomes. Permanent cognitive impairment, growth failure dysmorphic appearance are seen in early infant death males with salt wasting CAH (as most females discovered by presence of atypical genital appearance, while appeared normal). Newborn screening (NBS) for CH was developed broader engagement centers, more rapidly adopted throughout the US other large or countries, NBS pioneered relatively few not fully until initiation Universal Expanded Screening Panel 2005. Advances genetic understanding continue NBS. Cost–benefit analysis, showing as successful than NBS, may recognize cost a life saved Early treatment is much simpler taking pill day unlike requiring multiple medication doses, possibly surgery apart from enteral parenteral stress doses during crisis. management outcomes gender identity matters persons androgen effects still being studied.