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Advanced Technical IVT

endocrinopathy

Pronunciation: EN-do-krin-OP-ah-thee

Hormonal disorders detectable through newborn screening, primarily congenital hypothyroidism and congenital adrenal hyperplasia.

Full Definition

A category of conditions affecting hormone production or function that can be identified through newborn screening programs. The primary endocrinopathies screened include congenital hypothyroidism (affecting thyroid hormone production) and congenital adrenal hyperplasia (affecting cortisol and aldosterone production). Early detection and treatment of these conditions is crucial to prevent intellectual disability, growth problems, and life-threatening complications.

Usage

Usage note: Plural form is endocrinopathies.

In Context

  • "Screening for endocrinopathies has significantly reduced the incidence of preventable intellectual disability." — Public health report
  • "The elevated TSH level indicated a possible endocrinopathy requiring immediate follow-up." — Laboratory alert

Also known as

hormonal disorder

Don't confuse with

metabolic disorder enzyme deficiency

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