Professional Documents
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KLINEFELTER
SYNDROME
&
SUPERMALES
Christelle Mae Lacaba
Gerald John Paz
Christian Jules Tejada
Male Hyperestrinism
Definition
Pathophysiology
Signs and symptoms
Diagnosis
Treatment
Definition
Hyperestrinism = Hyperestrogenism
Estrin = Estrogen
Hyperestrogenism is described as the
overproduction of estrogen from the
ovaries or testicles.
Causes:
it is caused by cell tumors and
ovarian cysts (In females ).
familial hyperestrogenism
overconsumption of exogenous
sources of estrogen
it is caused by testicular tumors (In
males).
Pathophysiology
1. The most common cause of
estrogen excess is increased
conversion from androgens in
peripheral tissues, such as liver,
skin, and fat.
The most important of these is
cirrhosis of the liver, since this
organ is responsible for
metabolizing estrogen.
In females
enlarged mammary glands,
enlarged nipples,
enlarged vulva and clitoris,
irregular heat cycles, and
false pregnancy.
In males
enlarged nipples, and
drooping foreskin.
Gynecomastia
result of an imbalance between
estrogens, which stimulate breast tissue,
and androgens, which counteract these
effects
gynecomastia may occur as part of
Klinefelter syndrome (XXY karyotype)
functioning testicular neoplasms, such as
Leydig cell
Both
dry and brittle hair around the
genitals with some hair loss,
the skin can become darklypigmented with a dry flaky
rash.
Diagnosis
Excess estrogen is documented by
increased levels in the blood or urine
(or both)
Gonadotropins may be suppressed and
thyroid-binding globulin (TBG) and
testosterone-estradiol binding globulin
(TEBG) increased.
Assay for hCG is positive in those
having an ectopic source.
Treatment
1. Therapy is directed to the
specific etiologic factor.
2. Tumors of the ovary and tumors
associated with ectopic
production of hCG should be
identified and removed.
3. Hyperandrogenic conditions
should be corrected.
4. Efficacy of therapy should be
Klinfelter Syndrome
Definition
Pathophysiology
Signs and symptoms
Diagnosis
Treatment
Definition
Male hypogonadism that occurs when
there are two or more X chromosomes
and one or more chromosomes
It is also one of the important genetic
cause of reduced spermatogenesis and
male infertility
KLINEFELTER SYNDROME ISN'T AN
INHERITED CONDITION.
Other names:
47,XXY
XXY syndrome
XXY trisomy
Have higher risk for:
Breast cancer (20x more than normal)
Extragonadal germ cell tumor
Autoimmune disease such as SLE
Pathophysiology
47, XYY karyotype (90% of cases)
Klinefelter syndrome is typically
caused by what is called
nondisjunction.
Nondisjunction during the meiotic
divisions of one of the parents
Gynecomastia
Lower mean IQ than normal
Increased incidence of type 2
diabetes mellitus and
metabolic syndrome
Mitral valve prolapse in 50% of
patients
Hypogonadism
FSH: consistently elevated
Testosterone: variably reduced
Mean plasma estradiol: elevated with
unknown mechanism
undescended testes (cryptorchidism),
the opening of the urethra on the
underside of the penis (hypospadias)
Gynecoma
stia
Diagnosis
Hormone testing
Chromosome analysis. Also
called karyotype analysis, this
test is used to confirm a
diagnosis of Klinefelter
syndrome.
Treatment
Testosterone replacement
therapy.
Breast tissue removal
Speech and physical
therapy
Fertility treatment
Supermale
Definition
Pathophysiology
Signs and symptoms
Diagnosis
Treatment
Definition
Pathophysiology
nondisjunction in the male,
producing a sperm with two Y
chromosomes that fertilizes an
bearing oocyte.
Nondisjunction: The unequal
partitioning of chromosomes
into gametes during meiosis.
mental deficiency
speech and reading problems
Diagnosis
Sex Hormone-Binding
Globulin (SHBG) test
Testosterone levels
total testosterone test
Treatment
Medications:
1.Testosterone replacement
therapy
2.Fertility treatment.
intracytoplasmic sperm
injections (ICSI).
During this procedure, sperm is
removed from a mans testicle
and then injected directly into a
womans egg before it is planted
back inside of her.
Surgeries:
Gynecomastia. Men with excess
breast tissue as a result of XYY
Syndrome may want plastic
surgery to remove the breast
tissue.
Thank You !