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Diana Mossop

17 alpha hydroxylase deficiency

Definition

17 Alpha hydroxylase deficiency syndrome is a very rare disorder of the genes (specifically on steroid biosynthesis) which causes reduced production of sex steroids and glucocorticoids while the mineralocorticoid precursors are observed to have increased synthesis. It is, therefore, an autosomal recessive condition. The absence or deficiency of 17 hydroxylase results into many sexual malformations and illnesses.

Frequency

It has been reported that the disorder is rare. This syndrome comprises only 1% of the total number of cases for CAH (Congenital adrenal hyperplasia). The ratio could be as small as 1 in 50,000 people. Although rare, this deficiency can occur anywhere in the world with reported cases in Brazil, Turkey and Puerto Rico.

Mortality/Morbidity

Although hypertension or hypokalemia are prevalent results of this syndrome, adrenal crises have not been recorded. The only possible severe result is the elevation of the blood pressure which could range from mild to serious and complications of the original diagnosis on hypertension or hypokalemia.

Causes

The deficiency in 17 alpha-hydroxylase is a result of flaws in cytochrome P450c17. cytochrome P450c17 is the only enzyme that has 17 alpha-hydroxylase and also 17, 20-ylase activities.

Manifestations of the Disease

The reduction or absence of adrenal and gonadal sex hormones often results into sexual infantilism in females and indistinct genitalia in males. An excess in mineralcorticoid activity becomes the stimuli of various degrees of hypokalemia (characterized by weakness of the muscles, distension of the abdomen or obstruction of the intestines) and hypertension. 90% of patients that have been diagnosed with this syndrome become hypertensive or hypokalemic. This syndrome also leads to a delay in puberty (more often, pubic hair is absent among patients), primary amenorrhea or the absence of minor sexual traits. There have been reported cases where the 'supposed' male patients were brought up as boys and yet only to be discovered later on in life that they are, in fact, females as they begin to develop breasts and start to menstruate. In the case of diagnosed females, they age but they fail to mature (their breasts do not fully develop and the genitalia remains infantile). Another disease that could come out of 17 alpha hydroxylase deficiency is hypogonadism. This often results into osteoporosis or age retardation of the bones.

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