Klinefelter Syndrome (XXY)

It is a new option in prenatal screening for Down syndrome Trisomy 21 and other fetal chromosomal conditions Trisomies 18 and 13 , X and Y chromosome conditions. This test can be requested for any singleton pregnancy, including in vitro fertilization IVF pregnancies with egg donors. Cell free DNA cfDNA results from the natural breakdown of fetal cells presumed to be mostly placental and clears from the maternal system within hours of giving birth. During a pregnancy, cfDNA can be tested to give the most accurate screening approach in estimating the risk of fetus having a common chromosome condition sometimes called a trisomy. This occurs when there are three copies of a particular chromosome instead of the expected two. The test looks to detect the following trisomies: Trisomy 21 is the most common trisomy, at the time of birth. Also called Down syndrome, it is ssociated with moderate to severe intellectual disabilities and may also lead to digestive disease, congenital heart defects and other malformations. Trisomy 18 Edwards syndrome and Trisomy 13 Patau syndrome are associated with a high rate of miscarriage. These babies are born with severe brain abnormalities and often have congenital heart defects as well as other birth defects.

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Overview[ edit ] This section needs more medical references for verification or relies too heavily on primary sources. Please review the contents of the section and add the appropriate references if you can. Unsourced or poorly sourced material may be challenged and removed. August DSDs are medical conditions involving the way the reproductive system develops from infancy and before birth through young adulthood.

There are several types of DSDs and their effect on the external and internal reproductive organs varies greatly. A frequently-used social and medical adjective for people with DSDs is “intersex”.

The Planned Parenthood glossary offers a robust list of sexual and reproductive health terms so you can stay up-to-date on the latest terminology.

It is estimated that the annual incidence is around 20 patient per , population. There is no race, geographic, or gender correlation. Pathogenesis Had been hotly debated for many years as to the cause of this condition and is generally considered to be caused by Herpes Simplex virus due to associated serologic evidence in effected patients. Newer data has been published, but is not entirely conclusive. Most agree that is due to some viral pathogen with herpes being the most common, but also implicating CMV, EBV, adenovirus, and coxsackievirus.

Specifically, the signs and symptoms are a result of viral mediated inflammatory demyelination of the nerve. Signs and Symptoms Most common presentation is acute over several hours unilateral facial paralysis with: Patients should begin to have return of function within months.

What is Klinefelter Syndrome?

Klinefelter syndrome is a group of conditions that affects the health of males who are born with at least one extra X chromosome. Chromosomes, found in all body cells, contain genes. Genes provide specific instructions for body characteristics and functions. For example, some genes determine height and hair color.

1. INTRODUCTION Aim and objectives. The aim of these guidelines is to present the current evidence for the diagnosis and treatment of patients with cancer of the testis.

When to see a doctor See a doctor if you or your son has: Slow development during infancy or boyhood. Delays in growth and development can be the first sign of a number of conditions that need treatment — including Klinefelter syndrome. Though some variation in physical and mental development is normal, it’s best to check with a doctor if you have any concerns.

Many men with Klinefelter syndrome aren’t diagnosed with infertility until they realize they’re unable to father a child. Request an Appointment at Mayo Clinic Causes Klinefelter syndrome occurs as a result of a random error that causes a male to be born with an extra sex chromosome. It isn’t an inherited condition.

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Human karyotype[ edit ] human karyotype The normal human karyotypes contain 22 pairs of autosomal chromosomes and one pair of sex chromosomes allosomes. Any variation from the standard karyotype may lead to developmental abnormalities. Diversity and evolution of karyotypes[ edit ] Although the replication and transcription of DNA is highly standardized in eukaryotes , the same cannot be said for their karyotypes, which are highly variable.

There is variation between species in chromosome number, and in detailed organization, despite their construction from the same macromolecules. This variation provides the basis for a range of studies in evolutionary cytology. In some cases there is even significant variation within species.

The greek scholar Diodorus Siculus wrote of the mythical double-sexed Hermaphroditus: “Some say [he] is a god and has a body which is beautiful and delicate like that of a woman, but has the.

Genetics[ edit ] Location and structure of the human androgen receptor: Top, the AR gene is located on the proximal long arm of the X chromosome. Middle, the eight exons are separated by introns of various lengths. Bottom, illustration of the AR protein, with primary functional domains labeled not representative of actual 3-D structure. Several case studies of fertile 46,XY males with AIS have been published, [4] [60] [61] [62] [63] although this group is thought to be a minority.

A genetic female conceived in such a way would receive her father’s X chromosome, thus would become a carrier. A mutation in one but not both results in a minimally affected, fertile, female carrier. If the affected child is a genetic female, she, too, will be a carrier. A genetic female with mutations in both AR genes could theoretically result from the union of a fertile man with AIS and a female carrier of the gene, or from de novo mutation.

However, given the scarcity of fertile AIS men and low incidence of AR mutation, the chances of this occurrence are small. The phenotype of such an individual is a matter of speculation; as of , no such documented case has been published. Correlation of genotype and phenotype[ edit ] Individuals with partial AIS, unlike those with the complete or mild forms, present at birth with ambiguous genitalia , and the decision to raise the child as male or female is often not obvious.

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Originally Posted by theclarks I know this may not be a politically correct statement but I have always felt Klinefelters’s was by far worse then azoospermia. Including my husband feeling like he is part woman. Let me tell you alil more from the beginning.

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Intersex Awareness Day fell yesterday but as with the Transgender Day of Remembrance now becoming a part of the longer Trans Awareness Week, we should not limit education and awareness to just one day a year. The more sex, gender and sexuality, are taught about, their differences and their areas of overlap, the better. I have been told I am the wrong kind of trans, not intersex enough, not bipolar enough, and the wrong kind of lesbian — but I am certainly queer enough, but then some hate the reclaimed, new nuanced usage of queer.

Labels, even ones we are fighting for recognition of, need to be loose, flexible and tolerant, to truly embrace the diversity of difference. The only label that fits is the one we individually wear by choice, born or acquired. I have fought for intersex inclusion rather than intersex ignorance and invisibility and have encountered most opposition from LGB and even T activists.

Some of the greatest levels of ignorance of trans and intersex I have encountered have been in the LGB communities, not the wider population.

WHEN HE BECOMES SHE BECAUSE AFFECTED BY KLINEFELTER’S SYNDROME

He is 6′ 6″, , and has large breasts. He also has under-developed testicles and penis. He revealed all this to me when we began dating, along with his infertility. We have been married for 17 years now I was young and recently divorced with two little girls of my own, so the Infertility wasn’t that important to me. I went I to this marriage knowing that sex would not be ” the same” for me for the rest of my life, but I decided I could live with that.

1. Natural Hormonal Changes. If you thought estrogen is an exclusive female hormone then you’re going to have to change that opinion because men are also capable of producing it, albeit in smaller quantities, just as testosterone is also produced by women, but in smaller quantities as well.

KS only effects boys, to this day nobody is quite sure what causes it, though there is a strong belief it is caused by a mutant sperm. Detection within the womb is difficult, but there is supposed to be blood tests taken within 16 weeks of pregnancy or 24 weeks in older moms, the test is called a Karyotype blood test, and this checks for chromosome counts etc.

If, however the test wasn’t given through pregnancy, and the boy child is fortunate enough to be diagnosed at a very young age pre-puberty , then his treatment and support needs are installed rapidly to try and counter the extreme effects of KS upon reaching puberty. The first years of his life are relatively calm, though there will be times he will be withdrawn, a loner, mis-labelled at school by the education authorities as being slow or simple, he will be unable to communicate verbally, ie trying to explain things or engage in conversation, he will suffer bouts of frustration based outbursts, verbally or violently.

Now this is with the treatment, care and support, and there are a great many other issues the boy will suffer but his outside appearance and mannerisms will be nothing compared to the conflict and suffering he has inside. Upon reaching puberty he should have been on testosterone replacement therapy prior to pubecence and this would help he move forward physically as well as mentally into youth and maturity.

Klinefelter’s syndrome & my story.