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Inadequate circulation can cause problems like spitting and difficulty gaining weight in babies. Furthermore, infants with salt-wasting CAH may experience even worse symptoms like vomiting, extreme dehydration, and their circulation can suddenly fail (which is called circulatory shock) within two or three weeks after birth. [19]
The symptoms of CAH vary depending upon the form of CAH and the sex of the patient. Symptoms can include: Due to inadequate mineralocorticoids: [citation needed] Vomiting due to salt-wasting, leading to dehydration and death; Due to excess androgens: In extreme virilization, clitoromegaly (elongated clitoris) with a phallic-like structure is seen.
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.
It is coded by a gene at 8q21-22. Like the other forms of CAH, a number of different defective alleles for the gene have been identified, producing varying degrees of impaired 11β-hydroxylase activity. Also like the other forms of CAH, 11β-OH CAH is inherited as an autosomal recessive disease.
Like the other forms of CAH, suspicion of severe 3β-HSD CAH is usually raised by the appearance of the genitalia at birth or by development of a salt-wasting crisis in the first month of life. These severe, classical forms can be observed at birth by the following symptoms: boys may not develop masculine characteristics fully, while girls may ...
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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.
Now I’d like to visit the Maldives. The water looks so blue and beautiful. Give me sun and a beach, and I’m good. My favorite RHONJ memory was last year’s Maimonides softball game. We all ...