The mutation of a gene known as SRD5A2
The condition is predominant In men as it affects their sexual developments. The mutation of the gene known as SRDA2 is attributed to be the cause of the conditions. Generally, the mutation of any body part causes its normal development which is the case in pseudohermaphrodism. The named gene is associated with the generation of the hormone responsible for sexual development in men. Insufficient supply of this hormone on the early developmental stages that is the prenatal stage causes these malformations of the genitals. The hormone known as dihydrotestosterone (DHT) is not adequately produced . its insufficiency culminates in the poor development of the organs as the prenatal development of the tissues is disrupted (Bahceci et al., 2005).
In the early stages of development of a child, the genitals are generally small, in case the child is suffering from these conditions, the penis will have an abnormal size with a urethral opening. This is expected to change during the sexual development of the individual. This is at puberty when the testosterone levels are high in men. The development leads to sexual developments such as the growth of pubic hair, an increase in the body mass of the individuals and the deepening of the voice. In adulthood, a person cannot have a biological child without assisted reproduction. The health condition is also known as pseudovaginal perineoscrotal hypospadias or male pseudohermaphroditism (Bahceci et al., 2005).
Cause
The mutation of a gene known as SRD5A2 is associated with the condition. It is the gene which contains essential properties for required in the production of steroid-5-α-reductase 2. The enzyme is responsible for the production of androgen, which is a hormone e responsible for controlling the sexual developments of an individual (Cohen-Kettenis, 2005). Since enzymes act as a catalyst in the conversion of compounds in the body androgen facilitates the conversion of testosterone into DHT. In the early stages of development of a child more so in the womb, DHT is required for the coordination of the development of the genitals parts of a male child especially the external features such as the scrotum and the penis. Its unavailability will, therefore, lead to the deformity of the feature (Sultan et al., 2002). The mutation of the gene, therefore, is accounted for the failure in the conversion of testosterone to DHT, thereby inhibiting the development of the sexual features of the infants.
The testes are responsible for the production of testosterone at puberty stage.it is the hormone that facilitates the development of these features in the latter stages. It is due to this aspect that these may reproduce though they must be assisted. Research indicates that individuals with the condition effectively develop secondary sexual features due to the high levels of testosterone produced by the testes (Sultan et al., 2002).
Patterns in inheritance
An autosomal recessive manner is adopted in the transfer of the condition from the parents to the offspring. Mutation in the two copies of the gene takes place that is the SRDA2. The process takes place in the individual cells. Generally, the parents tend to have a single copy of the gene that has undergone mutation; this is in the case of an autosomal recessive individual. The parents do not have the phenotypic expressions of the condition, meaning that they may not be aware that they are carriers unless screening is done. The condition is severe in female their genetic composition is XX meaning that they can inherit the condition from both parents. The advantage is that the condition will not be expressed in females. It will only be evident after the merging of an X and Y chromosome. The sexual development of these women is not affected as women do not need DHT for their sexual development. The expression of these conditions will only take place when genetic X and Y chromosome join.
Diagnosis
There are different approaches associated with the diagnosis of the condition. The first approach is the ambiguous genitalia. The external genitalia does not have the typical appearance of a boy or girl in this birth defect. Male and female reproductive organs and genitalia are derived from the same fetal tissue. If the process of making this fetal tissue “male” or “female” is interrupted, ambiguous genitals may develop. This makes it difficult to identify a baby as male or female. The degree of ambiguity is different. Very rarely, as opposed to hereditary, physical appearance is fully developed. For example, a genetic male can develop a normal female appearance.
The second approach is known as genetic testing. This tests evaluate the genetic makeup of the chromosomes and also assesses the protein components in the chromosome. It is through these criteria that disorders are identified in an individual, thereby ruling out the genetic diseases that are more likely to attack an individual. It is one of the cheapest strategy used in identifying abnormalities in the genetic compositions of individuals.
There are various subcategories associated with genetic testing, which vary depending on the stage of development when the test is carried out. The first testing method is known as Molecular genetic testing. The test evaluates the Deoxyribonucleic acid and the short segment of genes to identify possible mutations. It is through these mutations that genetic disease comes to being. The difference between the molecular testing and the chromosomal testing is that the latter evaluated the long stretches to identify possible instances of mutation. It is through this concept that extra chromosomes are identified which may lead to genetic health conditions.
Another approach in genetic testing is known as the biochemical, genetic testing which entails the measurement of the level of proteins in a gene or a chromosome at large. The concept checks on the biochemical aspect of the phenomenon, thereby identifying possible changes in the DNA that may lead to mutation. Genetic testing is optional. Because testing has its benefits, limitations, and risks, determine whether the test is personal and difficult. A geneticist or genetic counsellor can help by providing information about the strengths and weaknesses of the test and discussing the social and emotional aspects of the test.
There are other types of genetic testing categorized by the stage when the test is carried out. The first screening is known as the neonatal screening, whereby the newborn baby is screened immediately after birth to identify any case of disorder in the genetic makeup. This strategy is helpful as some condition are treatable at the stages of development. The screening is crucial in identifying mutation, which may culminate in 5 alpha-reductase deficiency. The approach has been adopted in the United States, whereby millions of children are screened for the condition.
Diagnostic tests are used to identify or exclude specific genetic or chromosomal status. The test is mostly carried in case a physical condition is associated with the genetic makeup of the individual. These tests are carried at any stage of development as they may influence the type of medication to which an individual is subjected to. Despite the significant role played by the genetic tests, some tests, some genes may not be used to test all the genetic condition.
Career testing is another type of genetic testing. The test is carried to identify individuals with a single copy of genetic mutations that may lead to a genetic disorder. This test is mostly carried out in patients with a history of genetic disorders in the family. When tests are carried out on parents, it is made possible for the medics to identify the probability of parents getting offsprings with genetic disorders, thereby putting in place control measures.
There are chances that the mutation in the genetic or chromosomes may take place in the later stages of development of an individual. The predictive and asymptomatic approach is used to identify possibilities of these disorders in the genetic makeup. These tests too are effective in people with a family history of genetic disorders. The predictive tests evaluate the mutations that are likely to take place thereby determining the probability of an individual developing the condition
Prevalence
the condition is prevalent in few areas making it a rare condition. Generally, incidences of the condition have been reported in Egypt, Papua, Turkey and Dominica (NIH, 2020).
Treatment
The condition is managed by inhibitors such as the alpha-blockers, and the alpha-reductase inhibitors. The specific medications include Uroxatral, tamsulosin, terazosin, and Hytrin. There are used to inhibit the condition (NIH, 2020).
Reference
Bahceci, M., Ersay, A. R., Tuzcu, A., Hiort, O., Richter-Unruh, A., & Gokalp, D. (2005). A novel missense mutation of 5-alpha reductase type 2 gene (SRD5A2) leads to severe male pseudohermaphroditism in a Turkish family. Urology, 66(2), 407-410.
Sultan, C., Lumbroso, S., Paris, F., Jeandel, C., Terouanne, B., Belon, C., … & Jalaguier, S. (2002, August). Disorders of androgen action. In Seminars in reproductive medicine (Vol. 20, No. 3, pp. 217-228).
Cohen-Kettenis, P. T. (2005). Gender change in 46, XY persons with 5α-reductase-2 deficiency and 17β-hydroxysteroid dehydrogenase-3 deficiency. Archives of Sexual Behavior, 34(4), 399-410.
NIH (2020). U.S National Library of Medicine, 5-alpha reductase deficiency https://ghr.nlm.nih.gov/condition/5-alpha-reductase-deficiency#sourcesforpage