Congenital adrenal hyperplasia information

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Congenital Adrenal Hyperplasia

Congenital Adrenal Hyperplasia (CAH) is a rare cause of hirsutism. This ailment is an endocrine related disorder and hirsutism could be one of its key manifestations. Since, it is associated with an endocrine disorder, congenital adrenal hyperplasia is marked by excess androgen production.

Androgen is the main steroidal hormone that regulates hair production and development in the human body and all major causes of hirsutism are associated with it. So, any dysfunction of this enzyme leads to hair development and production diseases.

Polycystic Ovarian Syndrome (PCOS) is the most prevalent adrogenic cause of hirsutism. Apart from congenital adrenal hyperplasia, other lesser androgenic causes of hirsutism include hyperandrogenism, hypothyroidism, the hyperandrogenic insulin-resistant acanthosis nigricans syndrome (HAIR-AN), hyperprolactinemia, androgenic tumors, Cushing’s syndrome, hyperthecosis. Non-adrogenic causes are generally rare. Idiopathic hirsutism is the second most common cause of hirsutism after Polycystic Ovarian Syndrome.

Prevalence of congenital adrenal hyperplasia

Studies suggest that it affects between 1 percent and 6 percent of hyperandrogenic women, though racial differences have a key role to play herein. One survey reports that around 1 percent to 2 percent of hirsute patients of Anglo-Saxon origin have this syndrome, while 5 percent to 6 percent of hirsute cases of Latin lineage (e.g., Spanish, Italian, French) report this ailment. The occurrence of non-classic adrenal hyperplasia is found to quite high among Ashkenazi Jews and hirsute cases from the Middle East.

Primary symptoms of congenital adrenal hyperplasia

21-hydroxylase non-classic I adrenal hyperplasia (late-onset CAH) is a syndrome which is marked by acute hirsutism or virilization, established family history of CAH, stunted height and signs of masculinity. 21-hydroxylase-deficient congenital adrenal hyperplasia show symptoms more or less similar to late-onset CAH, with congenital virilization.

The pathophysiology of congenital adrenal hyperplasia

A partial 21-hydroxylase deficiency is the most prevalent enzyme disorder causing non-classic (late-onset congenital) adrenal hyperplasia. Non-classic 21-hydroxylase deficiency is possibly the most prevalent autosomal recessive genetic disorder. Most mutations causing 21-hydroxylase deficiency is caused by variations between the functional gene and the strongly associated extremely homologous pseudogene.

The 21-hydroxylase pseudogene, symbolized CYP21P or CYP21A, is located on human chromosome region 6p, near to the functional gene, CYP21. ‘In most cases 21-hydroxylase shortage show symptoms similar to Polycystic Ovarian Syndrome (PCOS) including polycystic ovaries and identical androgen circulation excess, with or without LH secretion disorder that could be associated with escalated unbound estradiol. Other indicators could be an elevated DHEAS. Apart from the increase in DHEAS levels caused by 21-hydroxylase shortage, 17 a-hydroxyprogesterone concentration is also always affected. Hence, clinical tests for both are mandatory.

However, there is a considerable fluctuation of 17-0H progesterone levels, with the ovulation cycle and with circadian rhythm. 17-OH progesterone concentration increases during the mid and luteal stages of the menstrual cycle. It is also found to be low in the afternoon and evening. Hence, evaluation of the symptoms include an early morning follicular phase (days 1-14 of the ovulation cycle) 17 a-hydroxyprogesterone level.

An un-stimulated 17-0H progesterone count of about 800 ng/dL indicates a 21-hydroxylase deficiency or adrenal tumor. Although increased basal levels of 17-0H progesterone (200-800 ng/dL) clearly indicates partial 21-hydroxylase deficiency, an additional ACTH-stimulation examination is a must for conclusive evidence. This investigation is done by measuring 17-0H progesterone levels both before and 30 to 60 minutes after the intravenous dose of 250 mg of synthetic 1-24 ACTH. Generally, an increase of greater than 36 nmol/L (1000 ng/dL) suggests deficiency of 21-hydroxylase.

Keeping out female patients with 21-hydroxylase deficiency, 3 percent to 4 percent of hyperandrogenic women show a supranormal alteration in 17-0H progesterone after adrenal stimulation (greater than 8.8 nmol/L, or 292 ng/dL) and could suggest carriers (heterozygotes) for congenital CYP21 disorders.

Other adrenal enzyme scarcity that could cause CAH are so uncommon that clinical tests are hardly conducted for them. Take for instance 3/3- HSD deficiency, which is a very rare cause, that has only come up accurately with advancement in genetic science. Previously, the evaluation of the condition was based on elevated :5:4 steroid ratio (3beta-HSD substrate/[17a-hydroxypregnenolone/17a-hydroxyprogesterone] product ratio). However, in most cases, patients diagnosed of partial or total 3beat-HSD scarcity as a result of this test did not show 3betaHS enzyme disorders. Hence, this evaluation process was adjudged unsuitable for a correct diagnosis.


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