Noonan’s Syndrome

Noonan’s syndrome is the result of a genetic abnormality. It usually causes several symptoms, including congenital heart defects, short stature, and certain abnormal physical characteristics.

In most cases, Noonan’s syndrome may be an inherited condition, but occasionally, it may result from a spontaneous mutation of genes, even when the parents are not affected.  One in every thousand to two thousand five hundred people is found to have this genetic abnormality. Noonan’s syndrome was originally considered the male version of Turner’s syndrome, as the characteristic symptoms are similar. However, the underlying genetic defect which causes Noonan’s syndrome is entirely different from that of Turner’s syndrome. A defective gene in the 12th chromosome is the cause of Noonan’s syndrome, and it can affect both boys and girls.

Webbed neck, ears set low in the head, drooping upper eyelids, and eyes set widely apart in the face, are common external symptoms. The fourth finger, which is usually referred to as the ring finger, is shortened in the affected children. Palate may be high-arched too. Hearing problems and heart and blood vessel problems are also prevalent. Short stature is typical of those who have Noonan’s syndrome. In some cases, intellectual disability also may be present.  In boys, undescended or underdeveloped testes are common. Underactive or non-functional ovaries may occur in girls. Delayed puberty, and infertility, especially in affected men, is usual.

Hormone therapy is the treatment of choice for Noonan’s syndrome. Initially, the affected child is given growth hormones to improve physical growth. When the child reaches satisfactory physical growth, testosterone is administered if the testes remain underdeveloped. Testosterone is a male sex hormone which would help enhance the development of male characteristics. This treatment has a parallel in the hormone treatment of girls with Turner’s syndrome who are given the female sex hormone estrogen to help attain sexual maturity.

Children who have Noonan’s syndrome require regular hearing tests and screening for probable heart problems.

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Yasser Elnahas

MD, PHD, Professor Of CardioVascular Surgery
Dr. Yasser Elnahas, Is an associate Professor of Cardiovascular Surgery. Dr. Elnahas was trained as a fellow At Texas Heart Institute And Mayo Clinic Foundation.Dr. Elnahas is dedicated to educating the general public about different disease conditions and simplifying the medical knowledge in an easy to understand terminology.

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