Familial Isolated Growth Hormone Deficiency
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Familial Isolated Growth Hormone Deficiency
Isolated growth hormone deficiency (IGHD) is a rare congenital disorder characterized by growth hormone deficiency and postnatal development, postnatal growth failure. It is divided into four subtypes that vary in terms of cause and clinical presentation. They include IGHD IA (autosomal recessive, absent GH), IGHD IB (autosomal recessive, diminished GH), IGHD II (autosomal dominant, diminished GH), and IGHD III (X-linked, diminished GH). References

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Congenital Disorder
A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can range from mild to severe. Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part works. Functional disorders include metabolic and degenerative disorders. Some birth defects include both structural and functional disorders. Birth defects may result from genetic or chromosomal disorders, exposure to certain medications or chemicals, or certain infections during pregnancy. Risk factors include folate deficiency, drinking alcohol or smoking during pregnancy, poorly controlled diabetes, and a mother over the age of 35 years old. Many are believed to involve multiple factors. Birth defects may be vi ...
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