STUDENT PAPER: THESIS – MY BROTHER

THESIS: Having Klinefelter’s syndrome with the 49, XXXXY variant is a rarity in itself. I believe it occurs in 1 in every 80,000 to 100,000 births; that is only 10 to 13 for every 1,000,000 people. My brother is one of these very elite and, in so many different ways, very special people.

I. Introduction
II. Klinefelter’s syndrome
- A. Information from Klinefelter’s Seminar, DVD
- B. Rarity and Severity of 49, XXXXY syndrome
III. My brother interviewed his mother
- A. Information From E-Mails
  - 1. Others like my brother and His Mother
IV. Conclusion

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Klinefelter’s syndrome is a sex chromosome abnormality named after Dr. Harry Klinefelter. The average male has 1 X and 1 Y chromosome. Chromosomes are microscopic, rod-shaped bodies carrying genes. Genes are units in the chromosomes by which hereditary characteristics are transmitted. The average female has just 2 X chromosomes. Any variant of this is called a sex chromosome abnormality. I read this in a book written by Dawn D. Matthews titled Learning Disabilities Sourcebook, second edition. The section of the book is titled Klinefelter Syndrome. Klinefelter’s syndrome (hereafter referred to as KS) is the most common form in males and is identified by its karyotype, 47, XXY. Having this extra X chromosome can cause abnormalities, such as smaller testicles and little body hair, and will likely prevent a male from reproducing (Matthews).

KS happens in about every 400 births, says Lindon, Bender, and Robinson. These three authors wrote about the lesser-known variants of KS; their article is titled “Sex Chromosome Tetrasomy and Pentasomy.” The more X and Y chromosomes one has, besides the norm, the more physical and mental issues one will face. [THESIS] Having Klinefelter’s syndrome with the 49 XXXXY variants is a rarity in itself. I believe it occurs in approximately 1 in 80,000 to 100,000 births, which translates to 10 to 13 people in every 1,000,000 births. My brother, Jay Stover, is one of these very elite and, in many different ways, very special people.

There are about 13 different karyotypes of KS that I’ve heard of. A karyotype is a name for all the numbers and letters, such as 49, XXXXY. Karyo means the nucleus of a cell. In each cell, there are chromosomes; mine are the X and Y chromosomes.

My brother is 49, XXXXY. He has three extra X chromosomes, and then the number 49 is put before the XXXXY. I could not find out exactly why. In my research, I have identified only 13 different karyotypes. The 48, XXXX has had 40 other cases presented since 1961 (Linden, Bender, and Robinson). This karyotype affects women. Only 3 of the 40 have successfully had children. These are the only reported cases. The 49, XXXXX, has only had about 26 cases reported since 1963. The 48, XXYY variant is one of the most common forms of Klinefelter syndrome (KS) (Linden, Bender, and Robinson). Being tall is also a trait of KS.

I won’t go into all the 13 different karyotypes, but I would like to talk a little about “The most severe variant of Klinefelter’s syndrome 49, XXXXY.” This quote comes from Linden, Bender, and Robinson’s article.

My brother was born in 1962, and I believe there have been about 100 cases of this variant reported since around that time. I read this in a printed seminar paper written by Lanfranco et.al, and the title is Klinefelter’s Syndrome. Now my brother has always had a smooth baby face.

I read that in most cases of 49, XXXXY, individuals have a rougher appearance and texture (Lanfranco et al.). My brother did, however, have a hole in his heart, and heart defects are familiar among 49, XXXXY people. It says in the article by Linden, Bender, and Robinson that “Mental retardation is characteristic of 49, XXXXY with the mean IQ estimated by Borghgraef et al to be 35. [22] The range is usually 20 to 60, but there have been isolated reports of a few boys in the 67 to 72 span; [19, 23, 24] the final adult IQ is unknown.” My brother’s IQ was in the 60s.

For my research on my brother, I went straight to the source, his mother (Name withheld). My brother was diagnosed at UCLA in Los Angeles in 1969. He was the first case of 49, XXXXY that the doctors had ever seen. (Name withheld) was a full-term baby, but our mom had partial placenta previa (Name withheld).

(Name withheld) He was considered a preemie due to his low birth weight, 3 lbs 13 oz. My mother was told that because of his weight, (Name withheld) would be slower in development, but that was not true. (Name withheld) was born with a left hip displacement that was congenital (Name withheld). When (Name withheld) was 5 months old, our mom says, “the orthopedist wanted to try manipulation surgery to try to get his hip into place. The family practitioner called me on the phone and said that when they gave (Name withheld) the anesthetic, his heart stopped and he was dead on the table.” They were able to revive (Name withheld), but the orthopedist would never touch (Name withheld) again.

The doctors tried different things to fix (Name withheld)’s hip over the span of 2 ½ years, but nothing worked. When (Name withheld) was three years old, my mom took (Name withheld) to an orthopedic hospital in Los Angeles. These doctors thought they could do a successful surgery, and they did. Finally, (Name withheld) was able to walk.

When (Name withheld) was nine months old, the doctors did a pneumoencephalogram (X-ray of the brain) and advised our mom and dad to put (Name withheld) into an institution. My mom asked, “Why, doctor, we have a happy, sweet baby, and you need to give me a good reason?” The doctor replied, “By the time he is five or six, if he lives that long, you will be so glad to get rid of him.” My mom refused to institutionalize (Name withheld) and to this day does not regret her decision in any way. (Name withheld) He is 47 years old and as loving and as happy as he ever was. (Name withheld) does have physical and mental challenges. He cannot read and can only tell time by the hour. His shoulders are typical for a person with KS.

(Name withheld) is mildly mentally retarded. He can carry on a conversation, and everyone loves (Name withheld). He is like a 13-year-old with his cell phone and video games. (Name withheld) loves his privacy and freedom. Thankfully, our mom is who she is and did not listen to the advice of some of (Name withheld)’s doctors. All of the struggles and troubles (Name withheld) has gone through make me wonder if (Name withheld) is not one of the strongest people I know. His attitude is that of a true winner, and he will never give up. Let him win, but if he cannot win, let him be brave in the attempt. That is the Special Olympics motto. It fits (Name withheld).

I was sent a DVD that housed a 2006 49, XXXXY conference. The doctor who spoke at this conference was named Alan D. Rogol, MD, Ph.D. It starts out talking about testosterone.

49, XXXXY children don’t get the right amount of testosterone when they are in their mother’s womb. This testosterone is what makes the external genitalia what it is. This is why even people with 47, XXY have smaller testicles and reproductive problems. Rogol explains how testosterone therapy is necessary for these patients. He says, “The principal goal is to restore the serum sex hormone levels to the normal range.”

With my brother (Name withheld), because of his age, this was never mentioned. Rogol explains that shots of testosterone are needed to restore the normal range. He claims that this is safe, affordable, and provider-independent. There are also pills, patches, and gels that patients can use. Administering these treatments to these patients promotes the development of secondary sexual characteristics, linear growth, normal muscle mass, and bone mineralization.

Next, in the video, he discusses dyspraxia and notes that all the cases of 49, XXXXY he has seen have some form of dyspraxia. Dyspraxia is difficulty or pain when trying to perform a task. It can be not easy in something as simple as sticking their tongue out or something as challenging as hopping across the room. It can be just pain in either of these areas, as well. To receive treatment for dyspraxia, one may consult a speech and language pathologist. This can be done as soon as it is detected. Characteristics of children with 49, XXXXY are low birth weigh,t and motor skills, language, and crawling are all delayed. Fine motor skills are also delayed. A severe speech and language disorder is prevalent.

In some e-mails I have received from families with a child who has 49, XXXXY, I have found that all of them have things in common. One of these things is that the doctors all have little knowledge of how some are very similar to the one doctor who told my mom to institutionalize (Name withheld). Some of the doctors sent these parents to the internet to research their children, and others provided them with outdated material from the 1960s. This is shocking to me. In this day and age of technology, that these parents could not have had their doctors give them the correct information is just shocking. These children are all under the age of ten.

This illustrates the rarity of this disease. One doctor actually said to one of these mothers, named (Name withheld) that she should have had genetic testing done so that she “could have taken care of this then.” With my brother (Name withheld) in my life, it is unimaginable to hear this. I can’t imagine life without (Name withheld).

One mother named (Name withheld) says that her doctor told her “(Name withheld) will be severely mentally retarded.” (Name withheld) is her son. Hansen goes on to say, “(Name withheld) is now 4 years old and can walk, talk, socialize, says the pledge of allegiance, can count to 30, knows all his letters, and is starting to learn numbers.” All these parents (there were 6 of them) have one more thing in common. They say their doctors were not very helpful, and that they all love their children and are happy that they have them. None of them regrets anything. In my research, I have found that all individuals with the 49,XXXXY KS variant are survivors.

I know that (Name withheld) is a survivor. Thankfully, my mom was able to prove the doctor wrong when he said (Name withheld) wouldn’t live past 5 or 6 and would be more trouble than my mom could handle.(Name withheld) is now 47 and has never been any trouble out of the ordinary for a boy. (Name withheld) It is very special to his family, like the children of the emails are to their families. He beat all the odds and exceeded all expectations. I have found that other families who have 49, XXXXY children feel a similar way. They claim to have a special bond because of their condition.

Works Cited
“2006 49, XXXXY Conference.” Alan D. Rogol, MD., Ph.D. Professor of Pediatricians, University of Virginia (speaker). 2006. DVD
Fabio Lanfranco, Axel Kamischke, Michael Zitzmann, Eberhard Nieschlag. “Klinefelter’s syndrome.” Lancet 2004; 273-83

Greaud, Michelle. “XXXXY Syndrome.” Message to Sean Stover. 23 Feb. 2010. E-mail

Hansen, Jennifer. “49XXXXY Variant.” Message to Sean Stover. 25 Feb. 2010. E-mail

“Klinefelter Syndrome.” Learning Disabilities Sourcebook, Second Edition. Ed. Dawn D. Matthews. US: Omnigraphics, Inc. 2003. 231-247. Print.

Linden MG, Bender BG, Robinson A. “Sex chromosome tetrasomy and pentasomy.” Pediatrics [Pediatrics] 1995 Oct; Vol. 96 (4Pt 1), pp 672-82

Stover, Laura. Personal interview. 25 Mar. 2010