Pseudovaginal Perineoscrotal Hypospadias, abbreviated as PPSH, is an extremely rare inherited abnormality that only affects males. It is also known as 5-alpha reductase deficiency and is a disorder of sex development. Affected males are born with the normal XY and a full set of 46 chromosomes, however, are born appearing physically female due to their abnormal genitalia. In several cases, these males have been mistaken to be female and and raised following that gender norm. Upon reaching puberty, these males began to develop masculine features like a deepening voice and increase in muscle instead of breasts developing and menstruation beginning. Afterward, it was realized that these affected males were not females as the penis begins to …show more content…
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. While some inherited traits do not have significant effects on phenotypes, PPSH has a severe impact on physical appearance. The most significant effect on phenotype is the indistinguishable male genitalia. There have been three distinct phenotypic possibilities seen with PPSH in terms of sexual development. Some are born with ambiguous genitalia, which is difficult to determine the gender. Others have what appears to be male genitalia in the form of a micropenis while their urethra is on the other side of the penis. However, the most common phenotype in PPSH males is genitalia that appears female.
AS is caused by a deletion or mutation on the maternal chromosome 15, alteration in UBE3A gene, paternal uniparental disomy, translocation, or mutation in the gene that activates UBE3A gene. PWS is a deletion or mutation on the paternal chromosome 15, uniparental disomy, or translocation. The loss of the SNORD116 gene on chromosome
Mucopolysaccharidosis type 2 also known as Hunters Syndrome. This condition affects many different parts of the body and occurs in males. It occurs only in the males because this condition is inherited in an X linked recessive pattern. Males have one X chromosome and females have two. So it affects males. The exception is MPS 2 in which the mother alone passes along the defective gene to a son.
The testes are one of the physical differences that are seen within men that has this disorder with the assumption that theses phenotypic differences are contingent to the proximity of the SRY gene in addition to the absence of the rearrangement that directly modifies SRY gene expression. The rearrangement of the SRY gene can cause a cascade of effects especially with the expression of the SOX 9. The influence of SOX 9 aids in the function of testes development. PCR assay have been utilized in order to reveal the significance of SOX 9 and how it aids in the development. The PCR assay sequenced genes that were used in the coding section of SOX 9, but the specific strain that was used not clearly defined. It was shown through three assays that it confirmed the idea that if the SRY gene were not present it would aid in the mutation of testicular development. Although this experiment was proved to show definite results, it did not show what the three independent PCRs were specifically targeting in the assay. The author was trying to prove that without the SRY gene a male phenotype would still develop, but the physical appearances of these men would be slightly modified to be less normal with small testes that were deemed infertile. The results that were displayed has risen more questions then finding a closer clue as to how the SRY gene could make a man infertile with malformation of the testes. Instead it questioned whether or not the SRY gene could ultimately be the cause of infertility despite having the mutation
The biological explanation of gender development enforces the idea that the role of genes and hormones are the main contributors towards the development of a child's gender. Both of the parents pass down 50% of their genetic makeup to their off-spring, where the mother provides the X chromosome and the father providing X or Y chromosome. Therefore, it is the father who determines the sex of the off-spring. If the father passes on the X chromosome then the child will be female and if he passes on the Y chromosome the child will be male. The presence of the Y chromosome determines the development of testes. Testosterone is released and male characteristics develop, and this affects brain hemisphere and hypothalamus action. So, male tend to
Prader - Willi Syndrome is caused by the deletion or not getting Chromosome 15 from the dad. This disorder
At birth, the individual’s external genitalia mimics the genitals of a female and may present itself as ambiguous depending upon the individual. The genitals is easily mistaken as female genitals because of an mutation that generates while the child is inside the womb. This mutation hinders the developing child’s body from changing testosterone, a male hormone into the secondary hormone DHT “dihydrotestosterone” (Live Science).
Intersexual disorders though rare have occurred throughout history. The victims of the condition were labeled Hermaphrodites after the Greek son of Hermes and Aphrodite, who was succumbed by the water nymph Salmacis and transformed into an androgynous being. Today, disorders of sexual differentiation (DSDs) occur at a rate of about 1.7% worldwide annually (Larson, 2011). It is defined to include congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. The treatment of individuals born with this anomaly differs in various regions of the world. The responses to the condition vary from being put to death, to being admired and called upon to give advice in the battle of the sexes.
The authors in paper one studied the genetic etiology of patients with disorders of sex development (DSD) (Kim et al, 2017). DSDs make up a congenital condition where the development of gonadal, chromosomal and anatomical sex is atypical (Kim et al, 2017). They
The female phenotype differs from the male phenotype, because females have stripes, lighter coloring, and they have longer abdomens. Males have stripes at the back of their abdomen that make it look darker, and their abdomens are shorter and blunter. They also have sex combs on their legs.
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.
MORPHOMETIC VARIABILITY: Sex identification was carried out through direct observation of the gonads based on the characteristics described by (Holden & Raitt 1975) individuals with a Standard Length (SL) equal to or greater 119.7 mm for females and 82.7 mm for males was considered as adults (Mancera-Rodríguez et al. n.d.).
Hermaphroditism is a rare case in humans, it happens when they are born with both Male and Female organs, testicular and ovaries tissues which change at puberty, with the development of a penis and the closure of the false vagina. There are two terms used for the people born with such phenomenon which is Hermaphrodites and True Intersex, people
The vagina is a great organic human nature. It is a tiny muscle, and tight enough to be able to give birth. However, some women experience vaginal symptoms such as stiff or discomfort during sex, which is why they think it too small, or not be able to enter the penis easier. But this is often a relief when business foreplay (body more calm muscles and facilitate sex ) and have a lot of mucus.If you still feel uncomfortable during sex after testing method is done, you may have the disease Vaginismus muscle in the first one-third of the vaginal contractions hardware itself which can not bribe or painful erection only once. Vaginismus disease commonly caused by a combination of factors such as sexual conflict (sexual abuse) and vaginal infections,
Prader-Willi syndrome (P.W.S.) is a genetic condition that affects various body parts and is caused by loss of function of genes in a particular region of chromosome 15 (15q11-q13 region). P.W.S affects an estimated 1 in every 10,000 - 30,000 people worldwide. P.W.S. in some cases can be inherited or caused by maternal uniparental disomy or the deletion of chromosome 15. The genetic changes occur during the formation of reproductive cells (eggs and sperm) or in early embryonic development. This development most likely affects families without any former history of the disorder. There are currently no treatments for Prader-Willi syndrome or prenatal testing for this genetic disorder but there are ways to detect it in the child’s infancy.
of less than 4% (1,2). However, in some patients, premedication or simultaneous use of local analgesia as cervical block may be necessary to accomplish the procedure (3). Cicinelli et al. (4), based on an experience of 8000 cases of office hysteroscopy, reported that approximately 10% of the patients experienced mild pain, and 0.5% of the cases experienced severe pain.