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Reproduction problems - Essay Example

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Reproduction problems Case 1 The patient has a deficiency in the enzyme 21B hydroxylase which is responsible for the biosynthesis of corticosteroids which include cortisol and aldosterone. The enzyme is found in the gene CYP21A2…
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Reproduction problems
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Download file to see previous pages In the case of this patient the deficiency of 21 Hydroxylase led to the over production of androgen in the adrenal gland, which caused virilence in the patient. The exact pathophysiology of this disease will be explained in detail in the following section. 21Hydroxylase is specifically located in the endoplasmic reticulum of the zona fasciculate of the adrenal gland. It main function is the catalysis of 17 hydroxyprogesterone to a compound known as 11 deoxycortisol utilizing the glucocorticoid mechanism (Nieschlang et al., 42-55).The pathway begins with pregnenolone and ends with cortisol. It also acts as a catalyst in the pathway of progesterone to 11 deoxycortisteronne. Therefore, the deficiency of this enzyme affects both the glucocorticoid and mineralocorticoid pathways. The alsom leads to the hyperplasia of the adrenal cortex and elevates the level of ACTH (Nieschlang et al., 42-55). Since the catalytic step of the reactions is inhibited, there is an accumulation of 17 hydroxypregnenolone and progesterone in the adrenal cortex. The level of 17 hydroxypregnenolone is elevated by approximately 500 times. 17 hydroxypregnenolone is utilized in the synthesis of androstenedione, DHEA and testosterone therefore excessive accumulation of this steroid hormone has led to the ambiguous external genitalia. The ovaries inside the patient are normal and the fallopian tubes, uterus and upper vagina are also normal due to the fact that they are not exposed to testicular antimullerian hormone. The elevated levels of testosterone lead to the enlargement of phallus. The patient has stage 1 virilization due to the significantly enlarged clitoris (Nieschlang et al., 42-55). The therapeutic approach towards congenital 21 hydroxylase deficiency is complicated and requires long term care and management. The patient should be admitted to the pediatric endocrine clinic. The management approaches require the following issues to be addressed and these include stress coverage, parental education and crisis prevention, monitoring and initiating hormonal replacement, optimizing the growth of the patient, reconstructive surgery of the external genetalia and optimizing the suppression of androgens and the future fertility of these infants. The hormonal replacement in newborns with CAH is to protect them from developing insufficiency of the adrenal gland and to also stomp the enhanced production of androgens. The hormonal replacement involves the administration of glucocorticoids which act as a substitute of cortisol thereby reducing the excessive amount of ACTH production. The parents of the child should also be educated on the nature of treatment as the administration of glucocorticoids is independent of the health condition of the patient and stopping administration may lead to death by adrenal crisis. The doses should never be missed. Case 2 The patient had 5 alpha reductase deficiency which is an autosomal recessive intersex disorder which occurs as a result of genetic mutation. This leads to the deficiency in the 5 alpha reductase type II gene (Costanzo, 10-20).The reactions that are catalyzed by 5 alpha reductase deficiency lead to the production of testosterone, therefore this process is inhibited. This enzyme is also responsible for the conversion of testosterone to DHT. The enzyme is expressed in the external genitalia in the early gestational period and is an important influence on the physiological development of male external ...Download file to see next pagesRead More
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