What is an Adrenal Hyper Plasia?
It is defined as a disorder in which there is a mutation of the gene for enzymes which lead to the bio chemical steps in the production of cortisol. It originates from the cholesterol by the adrenal glands which are referred as the steroid genesis. It is also known as the congenital adrenal hyper plasia and is referred as the CAH. It is autosomal recessive in the nature. Most of the cases show increase or decreased production of sex steroids which can change the development of primary or secondary sex characteristics in few affected individuals. A few people with this disorder have an inter sex condition and this attracted attention of people of America in the year 1990. It was also quite popular in media too. Most of the cases of congenital adrenal hyper plasia and is referred as the CAH are due to the deficiency of 21 hydroxylase.
What is the history of adrenal hyper plasia?
It includes the earliest description of the congenital adrenal hyper plasia and is referred as the CAH which was provided by the Italian anatomist Luigi De Crecchio. He said that it is very difficult to know about the sex of patient and is controversial. In one of theatres in the hospital they found the body of J Marzo at the end of month of January. The body was considered to be of male in all respects as guided by the physiognomy. Feminine curves were absent with a heavy beard. Muscles had a slight delicacy and were not totally developed. The pubic hair was distributed just like of a male. The lower part of the body was delicate and resembled that of female. It was covered with hair and the penis was covered with 6 to 10 cm in length. The corona was 3 to 8 cm in circumference and there was a large prepuce. One also observed a first grade hypos padias. One also observed two folds of skin which arise from the penis and encircled it. They were loose and resembled labia major.
2. There was another person De Crecchio who described the internal organs like vagina, uterus, tubes and ovaries. One must know about the habits, passion and the tendency of patient. It also tells about the general character of patient. One must know complete story as possible and must be clear about the facts. It stops unwanted controversies and is quite rampant in conversation of many people present when the patient is dissected. He interviewed many people and came to conclusion that J Marzo conducted himself in the sexual area as a male. This occurred at the point of contracting French disease. Diarrhea and vomiting were considered to be causes of death in these cases.
3. The account was translated by A Bongiovanni which consisted of all important themes and regulations. It was from D Crecchio. It raised a question on the gender, role, identity and orientation from the anatomy by his orientation and is determined by the anatomy and testosterone with his sex of rearing. The female chromosomes and gonads do not make him female. After his careful documentation of the Marzos social role than D Crecchio did not accepted his male identity and called him a woman in an Italian language. He relied on the 19th century assumption that the true sex of a person can be known by the inspection of internal organs. It leads to controversy and a lot of conversation and one sees a problem between the scientist and its urge to learn and know about the violation of privacy of J Marzo. Then the episodes of vomiting and diarrhea were seen in the cases of congenital adrenal hyper plasia and are referred as the CAH.
4. In the 20th and 21st century one notices a link between increase in the sex steroid and the diseases associated with the adrenal cortex. A term known as the adreno genital syndrome is applied for the sex steroid forming tumors and severe forms of congenital adrenal hyper plasia and is referred as the CAH. It dates back to first half of the century and is used to reduce the ambiguity and puts an emphasis on the patho physiology of disorder. The understanding of the congenital adrenal hyper plasia and is referred as the CAH came from the research conducted at Baltimore in the John Hopkins Medical School. It was done in the middle of 20th century and the founder of pediatric endo crinology L Wilkins did a work on the patho physiology of hyper plasia and over production of adrenal androgens from the impaired capacity to make cortisol. He used the adrenal extracts to treat children with congenital adrenal hyper plasia and is referred as the CAH in the year 1950. There is a genital reconstructive surgery which was done by Hopkins. In the year 1950, karyo typing was done in the congenital adrenal hyper plasia and is referred as the CAH and in the inter sex disorders. The Hampson brothers tried to convince the community regarding the sex assignment. They told them that it must not be based upon the single biological criteria and it relies on the gender identity. It has no relationship with the chromosomes or any hormones. One must refer a inter sex for better history and depends on the controversies regarding the surgery. In the year 1950, there were other developments in the form of hydro cortisone, fluoro cortisone and prednisone. In the year 1980, all steroids were measured in the blood by a reference laboratory. In the year 1990, all the related genes and enzymes were known. In the last decades we have seen a new development in the field of the congenital adrenal hyper plasia and is referred as the CAH and the deficiency in enzyme.
There are number of debates on the importance of genital reconstructing surgery and the sex assignment of badly virilized XX infants. There are new techniques which can improve the outcome of height and a screening programs for the new born to know about the congenital adrenal hyper plasia and is referred as the CAH and there are increasing efforts to treat this disorder before a child is born.
What is the genetics of adrenal hyper plasia?
It includes the autosomal genes. It codes for the enzymes with a large activity and one can notice the effects in people which have defective alleles of the genes. There are multiple different allelic mutations which have come into the exisistence. The parent of the patient is like a un affected hetero zygote in which the carrier of one defective gene as well as normal gene. It has no side effects. Each children has 1 by 4 chances of being infected with congenital adrenal hyper plasia and are referred as the CAH. It is now possible to have a pre natal diagnosis and hetero zygote detection. It occurs mainly in the medical research currently. The mutations can lead to the different forms of congenital adrenal hyper plasia and are referred as the CAH. They occur all over the world and there is a difference in the carrier rates of specific abnormal alleles in the different regions and ethnic groups. The mutations in enzyme 21 hydroxylase can lead to the conversion of genes or un equal crosses in the process of meiosis.
What is the peneterance of adrenal hyper plasia?
It includes the variability which occurs by the deficiency of enzyme. It is produced due to the alleles the patient has and this may result in the deficiency of enzyme. A large decrease in the deficiency of enzyme produces some changes in the fetus and troubles in the pre natal or peri natal life. The small decrease in the deficiency of enzyme produces an increase or decrease in the production of mineralo corticoids or sex hormones. There is a mild enzyme deficiency which leads to an infertility which occurs due to the anovulation. One also observes the hyper tension. There are few problems which differ from the genetic sex of affected person.