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Prior to the findings of the hyperplasia of neuroendocrine cells it was known as tachypnea of infancy, as most children outgrow the need for oxygen supplementation within two to seven years. It is characterized by tachypnea, hypoxemia, and retractions. [1] It is typically diagnosed in infants and children younger than one year of age. [2]
The most common symptoms include: [5] [6] [7] Chronic cough; Shortness of breath or dyspnea when exercising or exerting one's self; Wheezing (less frequent) Hemoptysis (Infrequent) Symptoms may be present for many years prior to diagnosis and are often ascribed to other lung conditions.
Late onset congenital adrenal hyperplasia (LOCAH), also known as nonclassic congenital adrenal hyperplasia (NCCAH or NCAH), is a milder form of congenital adrenal hyperplasia (CAH), [1] a group of autosomal recessive disorders characterized by impaired cortisol synthesis that leads to variable degrees of postnatal androgen excess.
Lipoid congenital adrenal hyperplasia is an endocrine disorder that is an uncommon and potentially lethal form of congenital adrenal hyperplasia (CAH). It arises from defects in the earliest stages of steroid hormone synthesis: the transport of cholesterol into the mitochondria and the conversion of cholesterol to pregnenolone—the first step in the synthesis of all steroid hormones.
Children with some overgrowth syndromes such as Klippel–Trénaunay syndrome can be readily detectable at birth. [3] In contrast, other overgrowth syndromes such as Proteus syndrome usually present in the postnatal period, characteristically between the second and third year of life. [ 2 ]
Symptoms usually manifest in the first 3 months of the child's life, with an average onset of 2.5 months. Frequently, some of these symptoms will manifest in the neonatal period. These paroxysmal symptoms are often used to help diagnose AHC, since there is no simple test for it. [citation needed]
The impact on life expectancy depends on the individual condition, [9] but is usually severe without treatment. [1] [3] It's estimated only 25–29% of people affected survive to adulthood, and only 10% to the age of 50. [1] The median life expectancy is around 9 years, and the average life expectancy is 16.3 years. [1]
As a result of the excessive amounts of growth hormone, children achieve heights that are well above normal ranges. [11] The specific age of onset for gigantism varies between patients and gender, but the common age that excessive growth symptoms start to appear has been found to be around 13 years. [6]