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In this first case I analyze a baby that is born and is diagnosed with ambiguous external genitalia. The subject has no penis and a clitoris that is enlarged. A chromosomal evaluation reveals an XX genotype. She has ovaries and no testes. Further testing confirms the baby has a form of adrenal hyperplasia, which there is a congenital lack of adrenal cortical enzyme 21B-hydroxylase.
A child’s sex is determined by it parents. A baby receives one X chromosome from the mother and receives either an X or Y chromosome from its father, which determines the sex of the baby. Under normal circumstances a baby inherits one pair of chromosomes from each parent. If a baby has two X chromosomes it will develop into a female and if the chromosomes are XY it will develop into a male. The fetus contains the fatty tissues that will develop a babies reproductive organs and genitalia. If the process is disrupted that the fetus identifies to be male or female, ambiguous genitalia can develop. In this case the baby is found to have ambiguous external genitalia. There’s no penis but a clitoris is enlarged (New, 2004). The baby has a XX genotype and tests confirm that the baby has adrenal hyperplasia, which there is a lack of adrenal cortical enzyme 21B-hydroxylase.
Congenital adrenal hyperplasia is a collection of genetic conditions that limit your adrenal glands' ability to make certain hormones (MedlinePlus Medical Encyclopedia, 2014). This is mainly because there is not enough cortisol produced by the adrenal glands. There are two other hormones that are also affected, including mineralocorticoids and androgens. This results in problems with normal growth and development in of the genitals. It is not only limited to males or females, but affects b...

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...haracteristics (Gautier et al, 1022-026). This enzyme coincides with the production of testosterone to dihydrotestosterone. In a normal individual dihydrotestosterone is responsible for the development of external male sex characteristics before birth.
There are different treatment options available to consider when dealing with an individual with 5-alpha reductase deficiency. Individuals who are raised male will begin a testosterone or dihydrotestosterone therapy. These treatments may help increase penile length. On the flip side individuals who were raised female will begin estrogen therapy once male characteristics are observed. If diagnosed early females can undergo a surgery called laparoscopic gonadectomy. This is extremely important with individuals who grow up as female because it will help these individuals identify more with their gender (Emerick, 2012).

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