innate adrenal hyperplasia ( CAH ) is agenetic disorder , in which the adrenal glands are affect . Normally , a person has a pair of adrenal gland , placed over eachkidney , which are creditworthy for producing certain important hormones likecortisol , aldosterone andtestosterone . In this shape , the adrenal glands and their hormone production is affected leading to health problems .
The term hyperplasia means gigantism and in this condition the adrenal glands are overgrown due to the shortcoming , which affects their operation . Thus , it is characterized by swelling of the adrenal glands and an instability of the touch on endocrine .
Causes Of Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia ( CAH ) is an genetic disorder caused due to genetic mutations resulting in lack of an enzyme , called 21 - hydroxylase , related to product of adrenal secreter hormones .
Normally , adrenal secreter produces build auction block which set Cortef with the help of this enzyme . When there is sufficient cortisol in the origin , stimulation of adrenal secretor to bring on the edifice blocks stops and the body functions regularly .
In congenital adrenal hyperplasia ( CAH ) , there is a ruffle in the process of grooming of cortisol from the building blocks due to the lack of this enzyme . As a result the levels of cortisol never rise to the optimum and the foreplay of adrenal gland continue . This causes the adrenal gland to overwork and leads to gigantism or swelling . Also , the building blocks are released in large sum , which are not the right way employ and hence they establish up in the glands .
One such construction block is the male endocrine , testosterone , which is produced in overindulgence and is released in the blood ; hence elevated stemma testosterone levels are seen . As cortisol is not prepared sufficiently , another hormone called aldosterone is also produced less causing adverse effects on the saltiness levels in the blood .
Types Of Congenital Adrenal Hyperplasia
There are two independent type of congenital adrenal hyperplasia
Clinical Features Of Congenital Adrenal Hyperplasia
The clinical picture count on the case of innate adrenal hyperplasia ( CAH ) and varies depending on the eld .
Clinical Features of Classic Congenital Adrenal Hyperplasia (CAH):
Clinical Features of Non-Classic Congenital Adrenal Hyperplasia (CAH):
As the condition is often noted subsequently , clinical feature film relate to sexual characters become more noticeable . However , some cases may not show any symptom at all .
youthful boy and men may have dilate penis .
person make congenital adrenal hyperplasia can suffer from saltiness mislay crisis ensue in electrolyte imbalance or can also be at increase risk ofhypertension .
Diagnosis of Congenital Adrenal Hyperplasia (CAH):
Severe forms of this condition may be detectable during infancy due to ambiguous genitalia ; however , milder conformation may be name later on or during examination for other condition . A thoroughgoing clinical testing by a doc may reveal distinctive physical characteristics and clinical features .
In Order To Confirm The Diagnosis, Investigations Ordered May Include:
Treatment of Congenital Adrenal Hyperplasia (CAH):
Treatment mainly purport at managing the hormone levels as far as potential to prevent or reduce following consequences .
Prevention of Congenital Adrenal Hyperplasia (CAH):
inherited counsel can avail in mob with jazz cases . Prenatal masking and diagnosing can help in detecting the term before birth . Treatment options of hormone permutation , while the fetus is in the womb are also uncommitted . newborn infant screening run is available and can also help oneself in other espial and intervention .
For patient role under treatment , it is of import to :
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