Tag Archives: Klinefelter Syndrome

Klinefelter’s Syndrome

Definition:
Klinefelter’s syndrome is a chromosomal abnormality that affects males who carry an extra one or more X chromosomes. Females have XX chromosomes and males have XY chromosomes. A male with Klinefelter’s would have XXY or XXXY. Because of the extra chromosome, individuals with the condition are usually referred to as “XXY Males”, or “47, XXY Males. It can lead to a variety of physical and physiological characteristics……CLICK & SEE THE PICTURES

Klinefelter syndrome is the most common sex chromosome disorder in males and the second most common condition caused by the presence of extra chromosomes. The condition exists in roughly 1 out of every 650 males.  One in every 500 males has an extra X chromosome but does not have the syndrome. Other mammals also have the XXY syndrome, including mice.

The syndrome can affect different stages of physical, language and social development .Principal effects sometimes include development of small testicles and reduced fertility. Because they often don’t make as much of the male hormone testosterone as other boys, teenagers with Klinefelter’s syndrome may have less facial and body hair and may be less muscular than other boys. They may have trouble using language to express themselves. They may be shy and have trouble fitting in.

The syndrome was named after Dr. Harry Klinefelter, who in 1942 worked with Fuller Albright at Massachusetts General Hospital in Boston, Massachusetts and first described it in the same year.

Symptoms:
XXY occurs in approximately 1 out of 1,000 live male births, but many men with it do not develop KS. When KS does develop, it usually goes undetected until puberty or sometimes much later.

Characteristics may include:

•For babies:
*Smaller birth weight and slower muscle and motor development
•For children and adults:
*Tallness with extra long arms and legs
*Abnormal body proportions (long legs, short trunk)
*Enlarged breasts (common)
*Lack of facial and body hair
*Small firm testes, small penis
*Lack of ability to produce sperm (common)
*Diminished sex drive, sexual dysfunction
*Social and learning disabilities (common)
*Personality impairment
*Attention deficit hyperactivity disorder (ADHD)
*Normal to borderline IQ
*Speech and language problems—Children with KS often learn to speak later than other children. They may have a difficult time reading and writing.

Men with KS have an increased risk of:

•Type 2 diabetes
•Breast cancer
•Lung cancer
•Cardiovascular disease
•Lung disease
•Osteoporosis
•Hypothyroidism
•Dental problems
•Leg ulcers

In contrast to these potentially increased risks, it is currently thought that rare X-linked recessive conditions occur less frequently in XXY males than in normal XY males, since these conditions are transmitted by genes on the X chromosome, and people with two X chromosomes are typically only carriers rather than affected by these X-linked recessive conditions.

There are many variances within the XXY population, just as in the most common 46,XY population. While it is possible to characterise 47,XXY males with certain body types, that in itself should not be the method of identification as to whether or not someone has 47,XXY. The only reliable method of identification is karyotype

Cause:
The extra X chromosome is retained because of a nondisjunction event during meiosis I (gametogenesis). Nondisjunction occurs with when homologous chromosomes, in the case the X and Y sex chromosomes, fail to separate, producing a sperm with an X and a Y chromosome. Fertilizing a normal (X) egg produces an XXY offspring.

The XXY chromosome arrangement is one of the most common genetic variations from the XY karyotype, occurring in about 1 in 500 live male births.

Another mechanism for retaining the extra X chromosome is through a nondisjunction event during meiosis II in the female. Nondisjunction will occur when sister chromatids on the sex chromosome, in this case an X and an X, fail to separate. An XX egg is produced which, when fertilized with a Y sperm, yields XXY offspring.

In mammals with more than one X chromosome, the genes on all but one X chromosome are not expressed; this is known as X inactivation. This happens in XXY males as well as normal XX females. However, in XXY males, a few genes located in the pseudoautosomal regions of their X chromosomes, have corresponding genes on their Y chromosome and are capable of being expressed. These triploid genes in XXY males may be responsible for symptoms associated with Klinefelter syndrome.

The first published report of a man with a 47,XXY karyotype was by Patricia A. Jacobs and Dr. J.A. Strong at Western General Hospital in Edinburgh, Scotland in 1959. This karyotype was found in a 24-year-old man who had signs of Klinefelter syndrome. Dr. Jacobs described her discovery of this first reported human or mammalian chromosome aneuploidy in her 1981 William Allan Memorial Award address

Variations:
The 48, XXYY (male) syndrome occurs in 1 in 18,000–40,000 births and has traditionally been considered to be a variation of Klinefelter syndrome. XXYY tetrasomy is no longer generally considered a variation of KS,[citation needed] although it has not yet been assigned an ICD-10 code.

Males with Klinefelter syndrome may have a mosaic 47,XXY/46,XY constitutional karyotype and varying degrees of spermatogenic failure. Mosaicism 47,XXY/46,XX with clinical features suggestive of Klinefelter syndrome is very rare. Thus far, only about 10 cases have been described in literature

Risk Factors:
Cases are sporadic but there’s an increased risk in the children of older mothers. Older mothers at risk may be offered pre-natal tests.

Diagnosis:
A karyotype is used to confirm the diagnosis. In this procedure, a small blood sample is drawn. White blood cells are then separated from the sample, mixed with tissue culture medium, incubated, and checked for chromosomal abnormalities, such as an extra X chromosome.

Diagnosis can also be made prenatally via chorionic villus sampling or amniocentesis, tests in which fetal tissue is extracted and the fetal DNA is examined for genetic abnormalities. A 2002 literature review of elective abortion rates found that approximately 58% of pregnancies in the United States with a diagnosis of Klinefelter syndrome were terminated

Treatment:
The genetic variation is irreversible. Testosterone treatment is an option for some individuals who desire a more masculine appearance and identity.(but testosterone replacement therapy may induce a more male appearance and reduce the risk of osteoporosis in many cases. Fertility can often be accomplished with fertility treatment.)

Often individuals that have noticeable breast tissue or hypogonadism experience depression and/or social anxiety because they are outside of social norms. This is academically referred to as psychosocial morbidity. At least one study indicates that planned and timed support should be provided for young men with Klinefelter syndrome to ameliorate current poor psychosocial outcomes.

By 2010 over 100 successful pregnancies have been reported using IVF technology with surgically removed sperm material from men with Klinefelter syndrome

Disclaimer: This information is not meant to be a substitute for professional medical advise or help. It is always best to consult with a Physician about serious health concerns. This information is in no way intended to diagnose or prescribe remedies.This is purely for educational purpose

Resources:
http://en.wikipedia.org/wiki/Klinefelter’s_syndrome
http://www.bbc.co.uk/health/physical_health/conditions/klinefelter1.shtml

http://www.aurorahealthcare.org/yourhealth/healthgate/getcontent.asp?URLhealthgate=11722.html

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Gynecomastia

Definition:

Gynecomastia, or gynaecomastiais the development of abnormally large mammary glands in males resulting in breast enlargement, which can sometimes cause secretion of milk. The term comes from the Greek gyne (stem gynaik-) meaning “woman” and masto meaning “breast”. The condition can occur physiologically in neonates (due to female hormones from the mother; this is called witches’ milk), in adolescence, and in the elderly. In adolescent boys the condition is often a source of distress, but for the large majority of boys whose pubertal gynecomastia is not due to obesity, the breast development shrinks or disappears within a couple of years. The causes of common gynecomastia remain uncertain, although it has generally been attributed to animbalance of sex hormones or the tissue responsiveness to them; a root cause is rarely determined for individual cases.

…....CLICK & SEE

Breast prominence can result from hypertrophy of breast tissue, chest adipose tissue and skin, and is typically acombination. Breast prominence due solely to excessive adipose is often termed pseudogynecomastia or sometimes lipomastia.

Gynecomastia should be distinguished from work hypertrophy of the pectoralis muscles caused by much exercise, e.g. swimming,bench press.

Description of Gynecomastia

Gynecomastia is fairly common. It is a physiologic phenomenon that occurs during puberty, when at least half of males experience enlargement of one or both breasts. Pubertal hypertrophy is characterized by a tender discoid enlargement of the breast tissue beneath the areola and usually subsides spontaneously within a year.

Gynecomastia also is common among elderly men, particularly when there is associated weight gain.

This condition is usually temporary and benign. It may be caused by hormonal imbalance, medication with estrogens or steroidal compounds, or failure of the liver to inactivate circulating estrogen, as in alcoholic cirrhosis.

It tends to remit spontaneously but, if marked, may be corrected surgically for cosmetic or psychological reasons.

It can be the first sign of a serious disorder such as a testicular tumor. Medical evaluation is always indicated when breast enlargement occurs.

Less commonly, gynecomastia may be caused by a hormone-secreting tumor of the breast, lung, or other organ. Biopsy may be performed to rule out the presence of cancer.

It is more common, however, in patients with Klinefelter’s syndrome.

Pseudogynecomastia is breast enlargement due to fat accumulation.

Pseudogynecomastia can be distinguished by physical examination. The examiner places the thumb and forefinger at opposite margins of the breast. The fingers are then brought slowly together along the nipple line. Enlarged glandular tissue can be recognized as a rubbery to firm disk of tissue concentric to and beneath the areolar area. The tissue often is freely mobile and may be exquisitely tender to palpation during the acute phase of development of gynecomastia.

Causes

Physiologic gynecomastia (also called Turcios Disease) occurs in neonates, at or before puberty and with aging. Many cases of gynecomastia are idiopathic, meaning they have no clear cause. Potential pathologic causes of gynecomastia are: medications including hormones, increased serum estrogen, decreased testosterone production, androgen receptor defects, chronic kidney disease, chronic liver disease, HIV treatment, and other chronic illness. Gynecomastia as a result of spinal cord injury and refeeding after starvation has been reported. In 25% of cases, the cause of the gynecomastia is not known.

Medications cause 10-20% of cases of gynecomastia in post-adolescent adults. These include cimetidine, omeprazole, spironolactone, imatinib mesylate, finasteride and certain antipsychotics. Some act directly on the breast tissue, while others lead to increased secretion of prolactin from the pituitary by blocking the actions of dopamine (prolactin-inhibiting factor/PIF) on the lactotrope cell groups in the anterior pituitary. Androstenedione, used as a performance enhancing food supplement, can lead to breast enlargement by excess estrogen activity. Medications used in the treatment of prostate cancer such as antiandrogens and GnRH analogs can also cause gynecomastia. Marijuana use is also thought by some to be a possible cause; however, published data is contradictory.

Increased estrogen levels can also occur in certain testicular tumors, and in hyperthyroidism. Certain adrenal tumors cause elevated levels of androstenedione which is converted by the enzyme aromatase into estrone, a form of estrogen. Other tumors that secrete hCG can increase estrogen. A decrease in estrogen clearance can occur in liver disease, and this may be the mechanism of gynecomastia in liver cirrhosis. Obesity tends to increase estrogen levels.

Decreased testosterone production can occur in congenital or acquired testicular failure, for example in genetic disorders such as Klinefelter Syndrome. Diseases of the hypothalamus or pituitary can also lead to low testosterone. Abuse of anabolic androgenic steroids (AAS) has a similar effect. Mutations to androgen receptors, such as those found in Kennedy disease can also cause gynecomastia.

Although stopping these medications can lead to regression of the gynecomastia, surgery is sometimes necessary to eliminate the condition.

Repeated topical application of products containing lavender and tea tree oils among other unidentified ingredients to three prepubescent males coincided with gynecomastia; it has been theorised that this could be due to their estrogenic and antiandrogenic activity. However, other circumstances around the study are not clear, and the sample size was insignificant so serious scientific conclusions cannot be drawn.

Diagnosis

The condition usually can be diagnosed by examination by a physician. Occasionally, imaging by X-rays or ultrasound is needed to confirm the diagnosis. Blood tests are required to see if there is any underlying disease causing the gynecomastia.

Prognosis
Gynecomastia is not physically harmful, but in some cases can be an indicator of other more dangerous underlying conditions.

Growing glandular tissue, typically from some form of hormonal stimulation, is often tender or painful. Furthermore, it can frequently present social and psychological difficulties for the sufferer. Weight loss can alter the condition in cases where it is triggered by obesity, but losing weight will not reduce the glandular component and patients cannot target areas for weight loss. Massive weight loss can result in sagging tissues about the chest, chest ptosis.

Questions To Ask Your Doctor About Gynecomastia
*Is it gynecomastia or pseudogynecomastia?

*What is the cause?

*Is it a hormonal problem?

*Can you rule out a serious disorder such as testicular or breast cancer?

*Is it related to male hypogonadism or hyperthyroidism?

*Is the gynecomastia drug-related?

*Under what circumstances would surgical correction be indicated?

Treatment

Treating the underlying cause of the gynecomastia may lead to improvement in the condition. Patients should talk with their doctor about revising any medications that are found to be causing gynecomastia; often, an alternative medication can be found that avoids gynecomastia side-effects, while still treating the primary condition for which the original medication was found not to be suitable due to causing gynecomastia side-effects (e.g., in place of taking spironolactone the alternativeeplerenone can be used.) Selective estrogen receptor modulator medications, such as tamoxifen and clomiphene, or androgens or aromatase inhibitors such as Letrozole are medical treatment options, although they are not universally approved for the treatment of gynecomastia. Endocrinological attention may help during the first 2-3 years. After that window, however, the breast tissue tends to remain and harden, leaving surgery (either liposuction, gland excision, skin sculpture, reduction mammoplasty, or a combination of these surgical techniques) the only treatment option. Many American insurance companies deny coverage for surgery for gynecomastia treatment on the grounds that it is a cosmetic procedure. Radiation therapy is sometimes used to prevent gynecomastia in patients with prostate cancer prior to estrogen therapy. Compression garments can camouflage chest deformity and stabilize bouncing tissue bringing emotional relief to some. There are also those who choose to live with the condition

Click to see:->Gynecomastia Treatment Alternatives – What Really Works?

Herbal treatment for Gynecomastia.(1) :…(2)…..(3)

Homeopathic Medication for Gynecomastia.…….(1)….(2)

You may click to see->:Just what is it about moobs?

Disclaimer: This information is not meant to be a substitute for professional medical advise or help. It is always best to consult with a Physician about serious health concerns. This information is in no way intended to diagnose or prescribe remedies.This is purely for educational purpose.

Resources:
http://en.wikipedia.org/wiki/Gynecomastia
http://www.healthscout.com/ency/68/323/main.html

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