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Congenital Adrenal Hyperplasia
Ambiguous genitalia
Ambiguous genitalia
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Recommended: Congenital Adrenal Hyperplasia
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).
ACH, is an interesting disease, one that after many years of research still remains a partial mystery. The fact that a single nucleotide on one chromosome can so greatly affect an individual is astounding, especially coupled with the fact that this mutation is so homogenious in genotype and phenotype. With more skeletal dysplasias being connected to FGFR3, research has increased to fully determine and define the pathways involved with this gene. Determining the reason for such a high mutation frequency and the link to paternal age are also being looked into. Once there is more understanding of how this mutation affects the body, treatments and possibly cures can be found for these individuals.
Congenital Adrenal Hyperplasia (CAH) is an inherited condition that affects hormone production in the adrenal gland. The individual lacks enzymes to make cortisol, and hormones are instead are shifted away to make other hormones, specifically androgens. This results in the deficiency of cortisol and the abundance of testosterone.
Various previous studies found that girl and boys have different type of toys preferences that can be learned through modeling and reinforcement. There are also biological factors that influence the differences between girls and boys. Gonadal hormones highly influence the development of sex differences in terms of behavior and in the brain at different species of animals. There is a unique case where females with genetic disorder congenital adrenal hyperplasia (CAH) –highly exposed to adrenal androgens before birth –shows a more manly behavior and physical energy with higher spatial ability than normal females. Other findings also show similar results caused by masculine hormones by maternal ingestion during pregnancy.
Addison’s disease is a disorder of the endocrine system. It is a hormonal disorder that can strike anyone, any gender at any age. Addison’s disease has also been called Adrenal Insufficiency (hypocortisolism) because the root of the disease is in the adrenal gland not producing enough of the hormone cortisol, or sometimes not enough of the hormone aldosterone to satisfy the body’s needs.
The androgenic effects of AAS are numerous. Depending on the length of use, the side effects of the steroid can be irreversible. Processes affected include pubertal growth, sebaceous gland oil production, and sexuality. Some examples of effects are growth of the clitoris in females and the penis in male children, increased vocal cord size, increased libido, suppression of natural sex hormones, and impaired production of sperm. Effects on women include deepening of the voice, facial hair growth, and possibly a decrease in breast size. Men may develop an enlargement of breast tissue, known as gynecomastia, testicular atrophy, and a reduced sperm count.
Swaab, Df. "Sexual Differentiation Of The Human Brain: Relevance For Gender Identity, Transsexualism And Sexual Orientation." Gynecological Endocrinology 19.6 (2004): 301-312. Informa Healthcare . Web. 7 Apr. 2014.
4) Money, J. , Schwartz, M. and Lewis, V.G. Adult Erotusexual status and Fetal Hormonal Masculinization and Demasculinization:46, XX. Psychoneuroendocrinology, 1984, 9, 903-908.
The 'Secondary' of the 'Secondary' of the 'Secondary' of the 'Secondary' of the 'Secondary' of the 'Secondary' of Puberty Suppression in a Gender-Dysphoric Adolescent: A 22-Year Follow-Up. Archives of Sexual Behavior, 40(4), 843-847. Diagnostic and statistical manual of mental disorders: DSM-5. 5th ed. of the book.
Treatment is started at slightly different ages in different countries, but often at an age of about 6-7 years. In order to achieve puberty development and a body height of more than the average of about 146 cm, oestrogen and growth hormone must be given. Oestrogen therapy should start after one has taken the growth hormone for at least two years (about 12-13 years old is average), using small doses at first to promote sexual development. Oestrogen is gradually supplemented by progesterone (a stronger female hormone) as the girl matures. The treatment can be given as tablets, injections, or oestrogen plaster.
Among those individuals that do not progress in the proper way into the genital phase, can still be playing out the psychodrama in various displaced, abnormal, or exaggerated ways. Primal desires of course can be quickly repressed but even among the mentally sane they could always rise again in dreams and in literature. The most critical conflict that the child must successfully resolve. healthy personality and sexual development and this all occurs during... ...
The male reproductive system is a set of organs that works together to produce sperm which will later in life fertilize females eggs. The testes are the most important part of the system because it produces sperm cells. It is similar and looks similar to ovaries of a female’s reproductive system because it also holds what they need to reproduce. Its job is to produce the sperm cells needed to reproduce. Due to hormonal imbalances the production of sperm cells may not even be possible in some males. Testosterone is the male the hormone that gives men there manly characteristics. It is made up of hydrogen, carbon, and oxygen with a white color. In the male body it helps develop sex organs, a deeper voice, and facial hair (Khalid, 2013). Cancer or a genetic disorder in males is the most common thing that cause the reductions of testosterone production in the body. Behind the testes is the epididymis which lets sperm go through the vas deferens from the testes (Dictionary, 2014). It looks like leach the way it is position right on the testes but it is thinner. When sperm is produces the ...
The X-chromosome is one of the two sex chromosomes(the other being Y) that is responsible for a variety of factors in a child’s developmental growth, the most commonly known being their biological sex. Researchers at the National Center for Biotechnology Information have studied the X-chromosome and its relation to homosexuality in men. Preceding their studies, the researchers hypothesized, “If the X Chromosome contains a gene that increases the probability of an individual’s being homosexual, then genetically related gay men should share X chromosome markers close to that gene. If no such gene exists, then no statistically significant correlations between sexual orientation and X chromosome will be observed” (Bocklandt, Horvath, Vilain, Hamer).
For a pregnant couple, it is common to be asked what gender your child is going to be: “are you having a boy or a girl?” However, what happens when it is difficult for a child to be classified in a specific gender? It is known that the XX chromosomes make up the genetic blueprint for a female and XY chromosomes make up the blueprint for a male. However, several people have not been identified as either a XX or a XY child. The condition “hermaphroditism”, commonly known as intersex, is the condition where a baby is “born with ambiguous genitalia…abnormally developed genitals that do not clearly identify the child as male or female” (Switzer 67). Thus, intersex people have been coined with the chromosomes XXXY due to uncertainty of which category they belong to. Usually with this condition, the baby would either have an abnormally large clitoris, an abnormally small penis, or both. Hermaphroditism, which falls under the “diagnosis of Disorders of Sexual Development (DSD), affects 1 in 2,000 children each year” (James). A common resolution is for the parent to choose the gender of the child, have the child undergo corrective surgery, and proceed to rear the child in the role of the selected gender. However, it has been argued that this method negatively affects the child both physically and psychologically. So, should parents be able to choose the gender for an intersex child? Some people might support the idea of parents choosing a child’s gender since it can be seen as a cultural aspect of their family and because parents have the freedom of choice. However, it is unreasonable and immoral for a parent to do so as it causes the child to enter into a struggle of self-identity, it does not allow the child to decide on having reconstru...
...ian Syndrome (PCOS) is one of the most common female endocrine conditions. It affects about 5 to 10 percent of women of reproductive age14. Women who have PCOS often suffer from high levels of hormones called androgens – a steroid hormone that regulates the development of male characteristics-14. This syndrome results in obesity, excessive hair growth, reproductive problems and other health issues.