Genetic Case Studies

De novo mutations account for 80-90% of all cases of ACH (1, 4, 7, 8, 11). Recent research has determined that increased paternal age correlates to this specific mutation occuring (4, 7, 11, 19). The maternal age seems to have no effect, meaning that the de novo mutation occurs during spermatogenesis (20). This has also been studied and each affected individual was found to have received the mutated chromosome paternally (21). There has only been one documented case of an

On the other hand, affected males present normally at birth with some showing signs of hyperpigmentation of the scrotum or a large phallus. It is recommended that surgery on females with ambiguous genitalia has the most positive outcomes between two and six months. Individuals with CAH are also at higher risk of early pubertal development and short stature as adults. Additionally, fertility rates in women with classic 21-alpha-hydroxylase CAH are low, while most males with the disorder are fertile as adults with a minority exhibiting evidence of Leydig cell failure and impaired spermatogenesis. In patients with classic 21-alpha-hydroxylase CAH there is an elevated serum 17-hydroxyprogesterone concentration of higher than 1200 ng/dL. In fact, most of the neonates found with the disorder have serum concentrations of 17-hydroxyprogesterone that exceed 3500

A family health nurse is responsible to be a reliable resource when helping clients understand illnesses that are passed down within their family and when conducting genetic counseling (Kaakinen, Coehlo, Steele, Tabacco, & Hanson, 2015). In this discussion, I will consider a scenario where I am a family health nurse meeting with a married couple who are both carriers for the genetic disorder of cystic fibrosis. I will review what a genetic counseling session provides, how I took a detailed family history to assess and analyze the potential genetic problems they would have with their offspring, if I would recommend genetic testing for the couple before they have children and if I could facilitate the testing, and discuss some advantages and

The females are not affected by this mutation even if they have two copies of the gene. They can inherit two copies while remaining unaffected because they do not require the hormone DHT. Their sexual development does not need this hormone and they are able develop normally. Meanwhile, males with PPSH are usually infertile. The very few cases of PPSH have made it difficult to determine risk factors for this autosomal recessive disorder. One reported case in an individual has been attributed to consanguinity as both sets of their grandparents were related. Another recent studied revealed that this SRD5A2 mutation can also be attributed from uniparental disomy, or UPD. There is still some ambiguity about this autosomal recessive disorder as there are not a lot of cases to study or make connections between.

Men with this condition have longer legs, a higher voice, and a thinner beard than average men do. Their testicles are smaller than usual and do not produce functioning sperm cells, so the men are infertile. Compared with other men, they have lower levels of androgens (male hormones) and more estrogens (female hormones). For this reason, they often develop gynecomastia (benign male breast growth) and have an increased risk of male breast cancer.

Two syndromes that embody the intersex condition in which the physical appearance of an individual's genitals does not reflect the individuals gender include CAH and AIS. Congenital adrenal hyperplasia happens when an individual's genetic make up is that of a female. However, during prenatal development, which is the first most important process and healthy and normal individuals; the syndrome causes the adrenal gland to go haywire and overproduce androgens due to a genetic condition. Thus, the prenatal sexual differentiation is one that does not occur in the manner that it normally would for a female. The overproduction of these androgens is directly connected to the fact that the individual who is genetically born a female begins to grow

Heterozygote advantage of interest is said to keep up hereditary variety since it contains both dominant and recessive alleles. The allele recurrence for heterozygotes will increment and they will be defended from malaria and sickle cell sickness. The homozygotes will fall to either malaria or sickle cell illness.

The symptoms and/or effects of having the disorder: Adrenal gland secrete aldosterone, cortisol, sex hormone, and adrenaline. However, if it did not working properly, It affect the body’s adrenal glands where the 21-hyroxylase enzymes is found in. CAH is a variant forms of sexual differentiation which is a masculinization

Well let me tell you. Some people affected by Klinefelter Syndrome have sparse body hair, enlarged breasts, and wide hips. In almost all men the testicles remain small. In some men the penis does not reach adult size. Their voices may not be as deep. They usually cannot father children. But they can have a normal sex life. Affected individuals typically have small testes that do not produce as much testosterone as usual. Testosterone is the hormone that directs male sexual development before birth and during puberty. A shortage of testosterone can lead to delayed or incomplete puberty, breast enlargement (gynecomastia), reduced facial and body hair, and an inability to have biological children (infertility). Some affected individuals also have genital differences including undescended testes (cryptorchidism), the opening of the urethra on the underside of the penis (hypospadias), or an unusually small penis (micropenis).

One of the most important characteristics of PCOS is hyperandrogenism; the excessive production of male hormones

Approximately half of the men in the sixth decade of life exhibited histological evidence of BPH. Almost 90% of men developed histology BPH by the ninth decade of life. A review of the literature provides compelling evidence that the prevalence of histology BPH is similar throughout the world. The specific factors that initiate and promote the proliferative process are unknown. The development of histology BPH requires both ageing and androgens.11, 12 Dihydrotestosterone (DHT) is the specific androgen mediating prostate for its development and growth. Testosterone is converted to DHT by the enzyme 5-alpha reductase (5AR). There are two subtypes of 5AR, type 1 and type 2. The primary subtype in the prostate is Type 2. Males with the 5AR deficiency syndrome do not convert intraprostatic testosterone to

Genetic testing can be beneficial for individuals who want a better understanding of the risk for a specific disease, but if the genetic test is for a legal stance, its benefits can be questionable. For example, a man goes on a trial for a violent murder but his genetic test shows the defendant has a mutation in the monoamine oxidase A (MAOA) gene. His lawyer claims that due to the mutation in the MAOA gene, the man was not able to control his impulses that lead him to have the aggressive behavior. However, the lawyer’s argument could be putting a lot of emphasis on genetics and ignoring other phenomenons such as mutations and polymorphisms interacting with the environment that could exacerbate the elevated level of aggression. Thus, it is important to examine the result of mutation in the MAOA gene to determine the extent that the MAOA mutation is responsible for the defendant’s crimes rather than relying solely on MAOA test results to determine if the suspect is guilty.

Advancements in Pre-implantation diagnosis and genetic engineering are making it possible for parents to design babies. According to center of the Cell, Preimplantation Genetic Diagnosis is being used to choose which traits are passed from parent to child. In the past thirteen years scientists and concerned parents have been debating if it's safe, fare, or essential for parents to pick what genes are passed down. Parents should be able to genetically modify their unborn child to have the traits of the parents choosing.

During my research on Androgen Insensitivity Syndrome I found that patients feel that psychological support is one of the most important aspect of medical care not only for the patient but also for the parents. Parent will often need genetic counseling to better understand the condition and the risk of recurrence for future pregnancy. Children benefit from visits with a psychologist or psychiatrist to inform the child of the condition when the time is appropriate and also aiding the child in adjusting to the condition. Continued counseling should be provided as a support to the family.

Postnatal differentiation of human Leydig cells involves a variety of cellular cascades resulting in mature Leydig cells. When the ‘second wave’ occurs after 2-3 months of birth there is a gradual increase in testosterone levels, the neonatal cell population during this time frame is a mix of mature well-developed Leydig cells and smaller ones (52). These cells possess well-developed steroidogenic machinery expressing both the LH receptor and key steroidogenic enzymes such as 3βHSD, P450scc, P450c17 required for androgen synthesis (53). The neonatal androgen surge is believed to play a role in imprinting various cell types in the prostate, hypothalamus, genetalia and kidney, in such a way they respond appropriately to androgen stimulation during adulthood (54). The Leydig cells then regress and testis remain dormant until puberty (55).