HYPERESTRINISM,

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).

increase the risk for

development of male breast
cancer
majority of breast cancers in
men are estrogen receptorpositive

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.

2. Excess estrogen production in

peripheral tissues can result
from:
Increased substrate
(hyperandrogenism)
Increased percentage conversion
of androgens
A combination of the above

3. Ovarian hypersecretion of estrogens

results either from primary disease or
from secondary hyperstimulation by
human chorionic gonadotropin (hCG)
secreted by a tumor such as a teratoma
or teratocarcinoma. Primary ovarian
disorders causing hyperestrogenism
include:
Functioning follicular cysts
Granulosa-theca cell tumors of the ovary

Signs and symptoms

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

a pair of sex chromosomes fails to separate du

rmation of an egg (or sperm),
referred to as nondisjunction.

Some males with Klinefelter

syndrome have the extra X
chromosome only in some of their
cells (mosaic Klinefelter syndrome).
Rarely, a more severe form of
Klinefelter can occur if a male has
more than one extra copy of the X
chromosome.

Signs and Symptoms

Most patients have a distinctive body habitus with
an increase in length between the soles and the
pubic bone elongated body
Eunuchoid body habitus with abnormally long legs
having undeveloped sexual organs in which
testicular hormones are not produced.
Small atrophic testes associated with small penis
(micropenis)
Lack of secondary male characteristics:
Deep voice
Beard
Male distribution of pubic hair

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

two Y chromosomes rather

than one
1 in 500-1,000 live male births
Jacobs syndrome (male)

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.

Signs and Symptoms

tallness
severe acne
sometimes by skeletal
malformations
an inability to grow facial or body
hair
delayed or absent puberty
emotional or behavioral issues

 gynecomastia, or enlarged breast tissue

hand trembling or involuntary muscle
movements
hypogonadism, or low testosterone levels
hypotonia, or weak muscle tone
learning disabilities
low energy levels
small penis
small, undersized testicles

mental deficiency
speech and reading problems

may cause him to be more

aggressive and prone to
criminal behavior
condition called the "supermale"
syndrome.

Diagnosis

47,XYY may be prenatally

diagnosed through cytogenetic
analysis of cells obtained
through such procedures as
amniocentesis and
chorionic villus sampling.

Sex Hormone-Binding
Globulin (SHBG) test
Testosterone levels
total testosterone test

Treatment

XYY SYNDROME CANNOT BE

CURED, BUT TREATMENTS CAN
HELP REDUCE SYMPTOMS AND
THE EFFECTS CAUSED BY IT

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 !