Case 13

GASMEN, CYRLLE F.
MED-1C
Biochemical Case 13
CASE:
A 27-year old man comes to fertility clinic for a workup for possible infertility.
He tells that he and his wife have been trying to conceive for the last two years but
have been unsuccessful. He has no significant medical history and reports no
exposure to radiation or noxious chemicals. Physical examination reveals a tall man
with gynecomastic features and small atrophic testes. When laboratory results
demonstrate decreased testosterone levels and increased FSH and LH levels, the
endocrinologists-fertility specialist begin to suspect that this patient may have a
genetic disorder that would account for the couple’s infertility.
DIAGNOSIS: Klinefelter Syndrome
DISCUSSION:
WHAT IS THE GENETIC DEFECT?
Klinefelter syndrome is a sex chromosome disorder in boys and men that
results from the presence of an extra X chromosome in cells. People typically
have 46 chromosomes in each cell, two of which are the sex chromosomes. Females
have two X chromosomes (46,XX), and males have one X and one Y
chromosome (46,XY). Most often, boys and men with Klinefelter syndrome have the
usual X and Y chromosomes, plus one extra X chromosome, for a total of 47
chromosomes (47,XXY).
EXPLAIN THE EFFECT OF THE GENETIC DEFECT.
Boys and men with Klinefelter syndrome have an extra copy of multiple
genes on the X chromosome. The activity of these extra genes may disrupt many
aspects of development, including sexual development before birth and at puberty,
and are responsible for the common signs and symptoms of Klinefelter syndrome.
Several conditions resulting from the presence of more than one extra sex
chromosome in each cell are sometimes described as variants of Klinefelter
syndrome. These conditions include 48,XXXY syndrome, 48,XXYY syndrome,
and 49,XXXXY syndrome. Like Klinefelter syndrome, these conditions affect male
sexual development and can be associated with learning disabilities and problems
with speech and language development. However, the features of these disorders
tend to be more severe than those of Klinefelter syndrome and affect more parts of
the body. As doctors and researchers have learned more about the differences
between these sex chromosome disorders, they have started to consider them as
separate conditions.
DESCRIBE THE CHARACTERISTICS OR CLINICAL MANIFESTATIONS.
Most commonly, affected individuals are taller than average are unable to
father biological children (infertile); however the signs and symptoms of Klinefelter
syndrome vary among boys and men with this condition. In some cases, the
features of the condition are so mild that the condition is not diagnosed until
puberty or adulthood, and researchers believe that up to 75 percent of affected
men and boys are never diagnosed.
Boys and men with Klinefelter syndrome typically have small testes that

produce a reduced amount of testosterone (primary testicular insufficiency).
Testosterone is the hormone that directs male sexual development before birth and
during puberty. Without treatment, the shortage of testosterone can lead to
delayed or incomplete puberty, breast enlargement (gynecomastia), decreased
muscle mass, decreased bone density, and a reduced amount of facial and body
hair. As a result of the small testes and decreased hormone production, affected
males are infertile but may benefit from assisted reproductive technologies. Some
affected individuals also have differences in their genitalia, including undescended
testes (cryptorchidism), the opening of the urethra on the underside of the penis
(hypospadias), or an unusually small penis (micropenis).
Other physical changes associated with Klinefelter syndrome are usually

subtle. Older children and adults with the condition tend to be somewhat taller than
their peers. Other differences can include abnormal fusion of certain bones in the
forearm (radioulnar synostosis), curved pinky fingers (fifth finger clinodactyly), and
flat feet (pes planus).
Children with Klinefelter syndrome may have low muscle tone (hypotonia)

and problems with coordination that may delay the development of motor skills,
such as sitting, standing, and walking. Affected boys often have learning disabilities,
resulting in mild delays in speech and language development and problems with
reading. Boys and men with Klinefelter syndrome tend to have better receptive
language skills (the ability to understand speech) than expressive language skills
(vocabulary and the production of speech) and may have difficulty communicating
and expressing themselves.
Individuals with Klinefelter syndrome tend to have anxiety, depression,

impaired social skills, behavioral problems such as emotional immaturity and
impulsivity, attention-deficit/hyperactivity disorder (ADHD), and limited problem-
solving skills (executive functioning). About 10 percent of boys and men
with Klinefelter syndrome have autism spectrum disorder.
Nearly half of all men with Klinefelter syndrome develop metabolic syndrome,

which is a group of conditions that include type 2 diabetes, high blood pressure
(hypertension), increased belly fat, high levels of fats (lipids) such as cholesterol
and triglycerides in the blood. Compared with unaffected men, adults
with Klinefelter syndrome also have an increased risk of developing involuntary
trembling (tremors), breast cancer (if gynecomastia develops), thinning and
weakening of the bones (osteoporosis), and autoimmune disorders such as systemic
lupus erythematosus and rheumatoid arthritis. (Autoimmune disorders are a large
group of conditions that occur when the immune system attacks the body's own
tissues and organs.)
EXPLAIN THE EXPECTED LABORATORY RESULTS.

The most overt phenotypic features of Klinefelter syndrome are caused by
testosterone deficiency and, directly or indirectly, by unsuppressed follicle-
stimulating and luteinizing hormones. There is decreased testosterone due to Boys
and men with Klinefelter syndrome typically have small testes that produce a
reduced amount of testosterone (primary testicular insufficiency). Testicular size
can be measured with a Prader orchidometer or ultrasonography. Middle school–age
boys with Klinefelter syndrome often will have elevated follicle-stimulating and
luteinizing hormone levels and low plasma testosterone levels.
WHAT IS THE TREATMENT?
Treatment for Klinefelter syndrome is based on signs and symptoms and may
include:
 Testosterone replacement therapy. Starting at the time of the usual

onset of puberty, testosterone replacement therapy can be given to help
stimulate changes that normally occur at puberty, such as developing a deeper
voice, growing facial and body hair, and increasing muscle mass and sexual
desire (libido). Testosterone replacement therapy can also improve bone
density and reduce the risk of fractures, and it may improve mood and
behavior. It will not improve infertility.
 Breast tissue removal. In males who develop enlarged breasts, excess

breast tissue can be removed by a plastic surgeon, leaving a more typical-
looking chest.
 Speech and physical therapy. These treatments can help boys with
Klinefelter syndrome who have problems with speech, language and muscle
weakness.
 Educational evaluation and support. Some boys with Klinefelter

syndrome have trouble learning and socializing and can benefit from extra
assistance. Talk to your child's teacher, school counselor or school nurse about
what kind of support might help.
 Fertility treatment. Most men with Klinefelter syndrome are typically

unable to father children because few or no sperm are produced in the
testicles. For some men with minimal sperm production, a procedure called
intracytoplasmic sperm injection (ICSI) may help. During ICSI, sperm is
removed from the testicle with a biopsy needle and injected directly into the
egg.
 Psychological counseling. Having Klinefelter syndrome can be a challenge,

especially during puberty and young adulthood. For men with the condition,
coping with infertility can be difficult. A family therapist, counselor or
psychologist can help work through the emotional issues.

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GASMEN, CYRLLE F.

Boys and men with Klinefelter syndrome typically have small testes that

Other physical changes associated with Klinefelter syndrome are usually

Children with Klinefelter syndrome may have low muscle tone (hypotonia)

Individuals with Klinefelter syndrome tend to have anxiety, depression,

Nearly half of all men with Klinefelter syndrome develop metabolic syndrome,

EXPLAIN THE EXPECTED LABORATORY RESULTS.

 Testosterone replacement therapy. Starting at the time of the usual

 Breast tissue removal. In males who develop enlarged breasts, excess

 Educational evaluation and support. Some boys with Klinefelter

 Fertility treatment. Most men with Klinefelter syndrome are typically

 Psychological counseling. Having Klinefelter syndrome can be a challenge,

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