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 Genetics Information: 
Sex chromosome disease

  Turner's syndrome 
  Klinefelter's syndrome 
  Congenital adrenal 
     hyperplasia 

 
Hemophilia A
  Hemophilia B 
  Failure to thrive 
  Amenorrhea - primary
  Menstruation, absent  
  Chronic granulomatous 
     disease 

  Developmental 
    disorders of the vagina 
    and vulva 

 
Aarskog syndrome

 




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  Genetics Information: sex chromosome disease      

"sex chromosome disease"

1. Turner's syndrome 
A disorder in women caused by an inherited chromosomal defect. This disorder inhibits sexual development and causes infertility.

Content Description:
A disorder in women caused by an inherited chromosomal defect. This disorder inhibits sexual development and causes infertility.
Causes and Risk:
Turner's syndrome is caused by a missing X chromosome. It affects 1 out of 3,000 live births. There are many manifestations of this syndrome, but the main features are short stature, webbing of the skin of the neck, absent or retarded development of secondary sexual characteristics, absence of menstruation, coarctation (narrowing) of the aorta, and abnormalities of the eyes and bones. The condition is either diagnosed at birth because of the associated anomalies, or at puberty when there is absence of menses and delayed development of normal secondary sexual characteristics.

Prevention:
There is no known prevention for this inherited disorder.

Symptoms:
short stature
webbed neck
low hairline
abnormal eye features (drooping of eyelids)
abnormal bone development
absent or retarded development of physical features that normally appear at puberty
tearing, decreased
menstruation, absent
simian crease (a single crease in the palm)
pectus excavatum (a "caved-in" appearance to the chest)

Signs and Tests:
A physical examination reveals underdeveloped genitalia, webbed neck, short stature, and abnormal development of the arms.

Karyotyping shows 45 chromosomes.
Serum luteinizing hormone is elevated.
Serum follicle stimulating hormone is elevated.
This disease may also alter the results of the following tests:
estriol - urine
estriol - serum
estradiol - test

Treatments:
Treatment is supportive. Growth hormone replacement may or may not be prescribed; it may help the child to achieve a more "normal" height.

Estrogen therapy is started at 12 or 13 years old to stimulate the development of secondary sexual characteristics so that girls affected with this disorder will have a more normal appearance as an adult. Estrogen therapy, however, will not reverse infertility.

Cardiac surgery is sometimes necessary to correct heart defects.

Complications:
kidney abnormalities
high blood pressure
obesity
diabetes mellitus
Hashimoto's thyroiditis
cataracts
arthritis

Call Healthcare Provider:
Call for an appointment with your health care provider if your infant appears to have symptoms of this disorder; or if an adolescent girl's development seems to be delayed.



2. Klinefelter's syndrome 
A chromosome abnormality that affects only men and causes hypogonadism.

Content Description:
A chromosome abnormality that affects only men and causes hypogonadism.

Causes and Risk:

Klinefelter's syndrome is caused by an extra X chromosome and affects only males. An infant appears normal at birth, but the defect usually becomes apparent in puberty when secondary sexual characteristics fail to develop, and testicular changes occur that eventually result in infertility in the majority of those affected. Some mild cases may go undetected with no abnormalities present except infertility. Increased maternal age may be a risk factor.

Prevention:
unknown
Symptoms:
small penis
small firm testicles
diminished pubic, axillary, and facial hair
sexual dysfunction
enlarged breast tissue (called gynecomastia)
tall stature
abnormal body proportions (long legs, short trunk)
learning disabilities
personality impairment
simian crease (a single crease in the palm)
Note: the severity of symptoms may vary

Signs and Tests:
Physical examination (rectal exam) may show an enlarged prostate.
Tests may include:
karyotyping showing 47XXY
semen exam showing low sperm count
decreased serum testosterone level
increased serum luteinizing hormone
increased serum follicle stimulating hormone

Treatments:
There is no treatment for the infertility associated with this syndrome. Testosterone therapy will improve the development of secondary sexual characteristics. The testicular changes that lead to infertility are not preventable.
Gynecomastia (enlarged breast tissue) can be treated with plastic surgery if it is disfiguring.
Counseling may be of benefit to people with emotional maladjustment due to sexual dysfunction and to reinforce male identity.

Complications:
The syndrome is associated with an increased risk of breast cancer, pulmonary disease, varicose veins, and osteoporosis.

Call Healthcare Provider:
Call for an appointment with your health care provider if a boy fails to develop secondary sexual characteristics.



3. Congenital adrenal hyperplasia 
A disorder present at birth characterized by a deficiency in the hormones cortisol and aldosterone (see the aldosterone test), and an over production of androgen (male sex hormones).

Content Description:
A disorder present at birth characterized by a deficiency in the hormones cortisol and aldosterone (see the aldosterone test), and an over production of androgen (male sex hormones).

Causes and Risk:
The different types of adrenogenital syndrome are inherited as autosomal recessive gene defects. This defect results in the lack of an enzyme needed by the adrenal gland to make cortisol. In response to deficient cortisol, the pituitary gland secretes a hormone (ACTH -- see the ACTH test) that stimulates the adrenal gland, causing the overproduction of androgen (male) hormones but without causing a desired increase in cortisol.
The condition affects both females and males. In a female newborn with this disorder, the clitoris is enlarged with the urethral opening at the base (ambiguous genitalia, often appearing more male- like than female). The internal structures of the reproductive tract (ovaries, uterus and Fallopian tubes) are normal. As she grows older, masculinization of some features takes place, such as deepening of the voice, the appearance of facial hair, and failure to menstruate at puberty. In a male newborn no obvious abnormality is present, but long before puberty normally occurs, the child becomes increasingly muscular, the penis enlarges, pubic hair appears, and the voice deepens. Affected males may appear to enter puberty as early as 2-3 years of age. At puberty, the testes are small.
Some forms of congenital adrenal hyperplasia are more severe and cause adrenal crisis in the newborn due to salt wasting. In the salt-losing form of adrenogenital syndrome, newborn infants develop symptoms shortly after birth. These include vomiting, dehydration, electrolyte changes, and cardiac arrhythmias. Untreated, this condition can lead to death within 9 to 14 days after the infant's birth.

Prevention:
Genetic counseling is indicated for parents with a family history of adrenogenital syndrome (of any type) or a family with a child who has adrenogenital syndrome.
Prenatal diagnosis is available for some forms of adrenogenital syndrome. It is accomplished in the first trimester by chorionic villus sampling and in the second trimester by measuring hormones such as 17-hydroxyprogesterone in the amniotic fluid.
A newborn screening test is available for the most common form of adrenogenital syndrome which can be done on heelstick blood (can be done as part of the routine PKU/thyroid/hemoglobin/etc. screens done on newborn infants. This test is not yet widely available.

Symptoms:
in females
ambiguous genitalia
early appearance of pubic and axillary hair
hair, excessive on females
deep voice
menstrual periods, abnormal
failure to menstruate
in men
early development of masculine characteristic
enlarged penis
small testes
early appearance of pubic and axillary hair
in both
height as children will be taller, but ultimate adult height will be significantly shorter

Signs and Tests:
elevated urinary 17-ketosteroids
normal or decreased urinary 17-hydroxycorticosteroids
elevated 17-OH progesterone
elevated serum DHEA sulfate
X-ray for bone age (demonstrates markedly advance bone age above chronological age)
serum electrolytes (abnormal in infants with salt-losing form of adrenogenital syndrome)
This disease may also alter the results of the following tests:
pregnanediol
estriol - urine
estriol - serum

Treatments:
The goal of treatment is to return the androgen hormone levels to normal. This is achieved by daily administration of dexamethasone, fludrocortisone, or hydrocortisone. The gender of a baby with ambiguous genitalia is determined by examination of the chromosomes (karyotyping). Reconstructive surgery for girls with masculine external genitalia is usually performed between the ages of 1 and 3, and can correct the abnormal appearance.
Parents of children with this disorder need instruction on the side effects of steroid therapy. They should report signs of infection and stress to their health care provider because increases in medication may be required. In addition, steroid medications cannot be stopped suddenly, or adrenal insufficiency will result.

Complications:
hyponatremia and shock (newborn only)
side effects of corticosteroids
adrenal crisis
Call Healthcare Provider:
Call for an appointment with your health care provider if your child develops symptoms of this disorder.
Also, if you had a child with this disorder and you plan to have other children, you should discuss this with your health care provider.



4. Hemophilia A 
A hereditary blood coagulation disorder caused by a deficient activity of plasma protein factor VIII, which affects the clotting property of blood.

Content Description:
A hereditary blood coagulation disorder caused by a deficient activity of plasma protein factor VIII, which affects the clotting property of blood.
Causes and Risk:
Hemophilia is a group of hereditary bleeding disorders of specific blood clotting factors classified as hemophilia A and B. Hemophilia A is the most common of these disorders and is the result of a deficiency of clotting factor VIII. The disorder is caused by an inherited sex-linked recessive trait with the defective gene located on the X chromosome. Females are carriers of this trait. Fifty percent of the male offspring of female carriers have the disease and 50% of their female offspring are carriers. All female children of a male hemophiliac are carriers of the trait.
The severity of symptoms can vary with this disease, and the severe forms become apparent early on. Bleeding is the hallmark of the disease and typically occurs if an infant is circumcised. Additional bleeding manifestations make their appearance when the infant becomes mobile. Mild cases may go unnoticed until later in life when try occur in response to surgery or trauma. Internal bleeding may happen anywhere, and bleeding into joints is common. Risk factors are a family history of bleeding and being male. The incidence of hemophilia A is 1 out of 10,000 men.

Prevention:
genetic counseling
prenatal intrauterine diagnosis with termination of pregnancy as an option

Symptoms:
bruising
spontaneous bleeding
bleeding into joints and associated pain and swelling
gastrointestinal tract and urinary tract hemorrhage
blood in the urine or stool
prolonged bleeding from cuts, tooth extraction, and surgery

Signs and Tests:
Coagulation studies involving many tests are performed if the person tested is the first one in the family to have a bleeding disorder. Once the defect has been identified, other family members will need less testing to diagnose the disorder.
prolonged PTT
normal prothrombin time
normal bleeding time
normal fibrinogen level
serum factor VIII antigen
assay for factor VIII levels

Treatments:
Standard treatment is infusion of factor VIII concentrates to replace the defective clotting factor. The amount infused depends upon the severity of bleeding, the site of the bleeding, and the size of the patient.
Mild hemophilia may be treated with infusion of cryoprecipitate or desmopressin (DDAVP), which causes release of factor VIII that is stored within the body on the lining of blood vessels.
To prevent a bleeding crisis, people with hemophilia and their families can be taught to administer factor VIII concentrates at home at the first signs of bleeding. People with severe forms of the disease may need regular prophylactic infusions.
Depending on the severity of the disease, DDAVP or factor VIII concentrate may be given prior to dental extractions and surgery to prevent bleeding.
Immunization with hepatitis B vaccine is necessary because of the increased risk of exposure to hepatitis due to frequent infusions of blood products.
Support Groups:
The stress of illness can often be helped by joining a support group where members share common experiences and problems. See hemophilia - support group.

Complications:
Chronic joint deformities, caused by recurrent bleeding into the joint, may be managed by an orthopedic specialist.
Recurrent transfusions may increase the risk of contracting AIDS and hepatitis, especially prior to 1985 when blood screening procedures were improved for detecting the AIDS virus. However, new heat processing treatment makes factor VIII material free of the AIDS virus and thus safe for use.
Intracerebral hemorrhage is another possible complication (see deep intracerebral hemorrhage, lobar intracerebral hemorrhage).

Call Healthcare Provider:
Call your health care provider if symptoms of a bleeding disorder develop.
Call for an appointment with your health care provider (for screening) if a family member has been diagnosed with hemophilia A.
Call for an appointment with your health care provider if you have hemophilia A and you plan to have children.


5. Hemophilia B 
A hereditary blood coagulation disorder caused by a deficiency of a plasma protein called factor IX that affects the clotting property of blood.

Content Description:
A hereditary blood coagulation disorder caused by a deficiency of a plasma protein called factor IX that affects the clotting property of blood.

Causes and Risk:
Hemophilia is a group of hereditary bleeding disorders of specific blood clotting factors classified as hemophilia A and B. Hemophilia A is 7 times more common than hemophilia B. Hemophilia B is the result of a deficiency of clotting factor IX. The disorder is caused by an inherited sex-linked recessive trait with the defective gene located on the X chromosome. Females are carriers of this trait. Fifty percent of the male offspring of female carriers will have the disease, and 50% of their female offspring will be carriers. All female children of a male hemophiliac will be carriers of the trait.
The severity of symptoms can vary with this disease, and the severe forms become apparent early on. Bleeding is the hallmark of the disease and typically occurs if an infant is circumcised. Additional bleeding manifestations make their appearance when the infant becomes mobile. Mild cases may go unnoticed until later in life, when they occur in response to surgery or trauma. Internal bleeding may occur anywhere and bleeding into joints is common. Risk factors are a family history of bleeding and being male. The incidence of hemophilia B is 1 out of 50,000 men.

Prevention:
Genetic counseling may be advised. Female carriers can be identified by testing.

Symptoms:
nosebleed - symptom
bruising
spontaneous bleeding
bleeding into joints and associated pain and swelling
gastrointestinal tract and urinary tract hemorrhage
blood in the urine or stool
prolonged bleeding from cuts, tooth extraction, and surgery
excessive bleeding following circumcision

Signs and Tests:
Coagulation studies involving many tests are performed if the person tested is the first one in the family to have a bleeding disorder. Once the defect has been identified, other family members will need less testing to diagnose the disorder.
PTT is prolonged.
Prothrombin time is normal.
Bleeding time is normal.
Fibrinogen level is normal.
Serum factor IX is reduced.

Treatments:
Standard treatment is infusion of factor IX concentrates to replace the defective clotting factor. The amount infused depends upon the severity of bleeding, the site of the bleeding, and the size of the patient. Hepatitis B vaccine is recommended for individuals with Hemophilia B because they are at increased risk of developing hepatitis due to exposure to blood products.
To prevent a bleeding crisis, people with hemophilia and their families can be taught to administer factor IX concentrates at home at the first signs of bleeding. People with severe forms of the disease may need regular prophylactic infusions.
Depending on the severity of the disease, factor IX concentrate may be given prior to dental extractions and surgery to prevent bleeding.
Support Groups: The stress of illness can often be helped by joining a support group where members share common experiences and problems. See hemophilia - support group.

Complications:
Chronic joint deformities, caused by recurrent bleeding into the joint, may be managed by an orthopedic specialist.
Recurrent transfusions may expose the individual to AIDS and hepatitis, especially prior to 1985 when blood screening procedures were improved for detecting the AIDS virus.
Intracerebral hemorrhage (such as deep intracerebral hemorrhage and lobar intracerebral hemorrhage) may also occur.
Thrombosis may occur following use of factor IX concentrate.

Call Healthcare Provider:
Call your health care provider if symptoms of a bleeding disorder develop.
Call for an appointment with your health care provider (for screening) if a family member has been diagnosed with hemophilia B.
Call for an appointment with your health care provider if you have hemophilia B and you plan to have children.


6. Failure to thrive 
Failure of growth and development in infants, toddlers, preschoolers, schoolage children, or adolescents to meet realistic expectations due to genetic, physical, psychological, or social factors. 

Content Description:
Failure of growth and development in infants, toddlers, preschoolers, schoolage children, or adolescents to meet realistic expectations due to genetic, physical, psychological, or social factors.

Causes and Risk:
Failure to thrive in infants and children is usually noticed by failure to gain height and weight. In teenagers, short stature and lack of sexual development is present. There is a wide variation in normal growth and development, and in general, the rate of change may be a better indicator of a problem than the actual measurements. 
An important factor is determining whether the failure to thrive results from problems intrinsic to the patient or from problems within the environment. Problems intrinsic to the patient are usually medical problems. Problems within the environment are usually psychosocial.
There are multiple causes of failure to thrive that will disturb the body's metabolism enough to result in delayed growth. Chromosome abnormalities such as Down syndrome and Turner's syndrome will delay growth. Defects in major organ systems also can delay growth. Abnormalities of the endocrine system such as thyroid hormone deficiency, growth hormone deficiency, or other hormone deficiencies can cause delayed growth or sexual development. Damage to the brain or central nervous system may cause feeding difficulties in an infant that result in delayed growth. Abnormalities in the cardiac and respiratory systems can result in disturbed mechanisms to deliver oxygen and nutrients to the body. Children with anemia or other blood disorders may have growth delay. Abnormalities in the gastrointestinal system may result in malabsorption or absence of digestive enzymes resulting in inadequate nutrition. Some diseases that can lead to this failure include cerebral palsy, chronic gastroenteritis, and gastroesophageal reflux (usually temporary). 

Psychological and social causes may include emotional deprivation as a result of parental withdrawal, rejection, or hostility. Economic factors can affect nutrition, living conditions, and parental attitudes. Environmental factors may include exposure to infections, parasites, or toxins. Sometimes the cause is undetermined. 
Risk factors for failure to thrive are related to the causes and may include underlying undiagnosed diseases, poverty, negative emotional environments, and crowded or unsanitary living conditions.

Prevention:
The best means of prevention is by early detection at routine well baby examinations and periodic follow-up with school-age and adolescent children.

Symptoms:
height, weight and head circumference in an infant or young child do not progress normally according to standard growth charts 
physical skills such as rolling over, sitting, standing, and walking are slow to develop mental and social skills are delayed development of secondary sexual characteristics are delayed in adolescents 

Signs and Tests:
A physical examination is done, including height, weight, and body proportions. A detailed history is taken, including prenatal, birth, neonatal, psychosocial and family information. A Denver Developmental Screening Test reveals delayed development. 
The following laboratory tests may be performed: 
CBC to detect anemia 
urinalysis 
thyroid function tests 
other hormone studies 
hemoglobin electrophoresis to determine the presence of conditions such as sickle cell disease
X-rays to determine bone age 

Treatments:
The treatment depends on the cause of delayed growth and development. Delayed growth due to nutritional factors can be resolved by a well-balanced diet and education of the parents. If psychosocial factors are involved, treatment should include improving the family dynamics and living conditions. Parental attitudes and behavior may contribute to a child's problems and need to be examined.

Complications:
Permanent mental, emotional or physical delay(s) can occur.

Call Healthcare Provider:
Call for an appointment with your health care provider if your child does not seem to be developing normally.



7. Amenorrhea - primary 
The absence of any menstrual flow by the age of 16.

Content Description:
The absence of any menstrual flow by the age of 16.

Causes and Risk:
The median age for menarche is approximately 12.3 years. However, the range varies widely. The incidence of primary amenorrhea in the United States is only 2.5%. Primary amenorrhea is not considered to have occurred until a girl is beyond age 16 without the onset of menses, if she has undergone other normal changes that occur during puberty. Primary amenorrhea may occur with or without other signs of puberty. 
There are multiple causes for primary amenorrhea: 
normal delay of onset (up to age 14 or 15) 
drastic weight reduction (resulting from poverty, fad dieting, anorexia nervosa, bulimia, very strenuous exercise, or other cause) 
congenital abnormalities of the genital system (absence of the uterus or vagina, vaginal septum, cervical stenosis, imperforate hymen) 
hypoglycemia 
extreme obesity 
gonadal dysgenesis 
chromosomal abnormalities such as Turner's syndrome (XO), or Swyer's syndrome (XY) 
hypogonadotropic hypogonadism 
testicular feminization syndrome 
true hermaphroditism 
chronic illness 
malnutrition 
Cushing's disease 
cystic fibrosis 
congenital heart disease (cyanotic) 
craniopharyngioma, ovarian tumors, adrenal tumors 
hypothyroidism 
adrenogenital syndrome 
Prader-Willi syndrome 
polycystic ovarian disease 
congenital adrenal hyperplasia 
Symptoms:
absence of the first menstrual period by age 16, with or without changes of puberty
 
Signs and Tests:
medical history 
physical examination 
progesterone withdrawal 
chromosome analysis 
serum chemistry (serum gonadotropin) 
LH 
FSH 
prolactin 
TSH 
T3 and T4 
urine chemistry, 17-ketosteroids 
head CT 
head MRI scan 
ultrasound, pelvic region 
laparoscopy 

Treatments:
Treatment depends on the cause of the amenorrhea. 
Pituitary tumors, located in the brain, are usually treated with bromocriptine, a drug that inhibits the abnormally high prolactin secretion caused by these tumors. Surgical removal may also be necessary. Radiation therapy is usually reserved for situations in which other medical or surgical treatment regimens are not successful. 
Young women with primary amenorrhea found to be caused by developmental abnormalities (which may result when the parts of the female reproductive system did not form properly before birth) may require hormonal supplementation, surgery, or both. In any case, psychosocial support and counseling for the patient and family is necessary to address specific concerns and provide guidance regarding anticipated sexual development. If the problem causing the amenorrhea is not correctable, than the patient and health care provider should consider the possibility of creating pseudomenstruation. This is a menstrual period that is caused by hormonal treatment rather than natural causes. 
For amenorrhea caused by normal delay of menstruation onset, wait until age 16. 
If the condition is caused by systemic disease, treatment of the disease should allow menarche to begin.

Complications:
Psychological distress or crisis about being different from friends or family can occur. 

Call Healthcare Provider:
Call your health provider if your daughter is older than age 16 and has not yet begun menstruating.



8. Chronic granulomatous disease 
An inherited abnormality of certain cells of the immune system that "ingest" bacteria and kill them (phagocytic cells); the abnormality results in chronic infection by certain types of bacteria.

Content Description:
An inherited abnormality of certain cells of the immune system that "ingest" bacteria and kill them (phagocytic cells); the abnormality results in chronic infection by certain types of bacteria.

Causes and Risk:
Chronic granulomatous disease (CGD) is transmitted as a sex-linked recessive trait. CGD is almost universally a disease affecting males, although it is possible for a woman to have two affected X chromosomes and subsequently develop CGD.
In this disease, the inability of phagocytic cells to kill certain bacteria and fungi leads to long term (chronic) and repeated (recurrent) infections appearing in the first years of life. Milder forms may appear in adolescence.
Impetigo, skin abscesses and furuncles, and perianal and rectal abscesses are common. Recurrent pneumonia is a significant problem and may be caused by bacteria not typically found in most pneumonias. Chronic swelling of the lymph nodes in the neck with abscess formation is common.

Prevention:
Genetic counseling is recommended for prospective parents with a family history of chronic granulomatous disease. Advances in genetic screening and increasing use of chorionic villus sampling have made early recognition of chronic granulomatous disease feasible, although the practice is not yet widespread or fully accepted. Carrier status in the female can be identified by testing.

Symptoms:
swollen lymph nodes in the neck that develop early in life and that persist or occur frequently abscess formation in the lymph nodes of the neck that require surgical drainage frequent and difficult-to-clear skin infections such as:
impetigo
abscesses
furuncles
impetiginized eczema (eczema complicated with an infection)
perianal abscess
frequent pneumonia
pneumonia that is difficult to clear
persistent diarrhea

Signs and Tests:
Physical examination may show an enlarged liver (hepatomegaly), enlarged spleen (splenomegaly), and swelling of multiple lymph nodes all over the body (generalized adenopathy). Signs of osteomyelitis may appear, often affecting many of the bones.
Tissue samples may be obtained for biopsy, which will show granulomas in the biopsied tissue.
Other tests may include:
NBT test confirms the disease and also detects carrier state in the mother
CBC
ESR
chest X-ray
bone scan
liver scan

Treatments:
Acute infections should be treated vigorously with appropriate antibiotics. Preventive (prophylactic) antibiotics may be prescribed, to be taken on a daily basis to try to decrease the frequency of infection.
Complications:
chronic pneumonia
lung tissue damage

Call Healthcare Provider:
Call your health care provider if you have chronic granulomatous disease, and you suspect that you have pneumonia or infection in another part of the body. Notify your health care provider if recurrent pneumonia or recalcitrant skin infections are a problem.



9. Developmental disorders of the vagina and vulva 
A variety of structural abnormalities that occur during fetal development.

Content Description:
A variety of structural abnormalities that occur during fetal development. 

Causes and Risk:
With the union of a sperm and an ovum, an embryo acquires the chromosomes that determine the sex of the fetus (XX=female; XY=male). For the first 6 weeks, the sex of the fetus is not distinguishable. At about 6 weeks gestation, ovaries begin to develop in those with two X chromosomes, and testicles develop in those with an X and Y chromosome. Sexual ambiguity may arise when additional X chromosomes are present, or the Y chromosome is not functioning correctly. The X chromosome is the primary determinant of feminine traits; however, geneticists have noted over 200 traits that are thought to be X-chromosome linked (such as hemophilia and color blindness). In contrast, the Y chromosome has only been linked with testicular formation and the development of male secondary sexual characteristics during puberty. 
As fetal development progresses through the pregnancy, problems may arise in the development of internal and/or external sexual organs. Since embryonic tissue is initially the same, with no male and/or female differentiation, such problems may cause genetic males to have "female" genital structures and genetic females to have "male" genital structures. An example of this is true hermaphroditism. In the past, most of these individuals were raised as males since their external genitalia appeared more masculine. In fact, had early diagnosis been available, most should have been raised as females since they all developed significant breasts and many menstruated. After surgical removal of testicular tissue, some have even become pregnant and delivered normal children. 

Prevention:
Adequate prenatal nutrition and avoiding exposure to illness, medications, and alcohol are all important for adequate fetal growth and development. Developmental disorders may still occur despite the mother's efforts to assure a healthy pregnancy. There is no current means of prevention. 

Symptoms:
Symptoms vary according to the abnormality present. Abnormalities include: 
imperforate hymen - An adolescent girl may complain of recurrent pelvic pain and lack of menstrual periods. Urinary retention may also occur. 
vaginal septum (complete - An adolescent girl may have those symptoms similar to imperforate hymen. Incomplete vaginal septum may allow adequate menstrual flow but later may cause pain with intercourse. 
menstruation, absent--This may also be associated with this disease. 

Signs and Tests:
Inspection of the external genitalia, may reveal: 
one side of labia larger than the other, or unusually large on both sides 
vaginal opening extremely close to the urethra or anus 
urethra located on the clitoris 
enlarged clitoris
Examination of the vagina may reveal: 
absence of, or partially-formed, vagina 
fusion of the labia 
abnormal septum ("wall" of connective tissue) in the vaginal canal that may either partially or completely divide the vagina horizontally or vertically 
imperforate hymen (solid membrane obstructing the vaginal opening). In preadolescent girls, secretions may accumulate causing vaginal distention and a shiny, bulging protuberance at the vaginal opening. In adolescent girls, menstrual blood accumulates causing a purplish-red, bulging protuberance at the vaginal opening. 

Treatments:
Early recognition of developmental disorders is important, particularly for those that involve sexual ambiguity. 
Surgical treatment, indicated in some cases depending upon the abnormality, is usually recommended during the neonatal/infant period. In some instances reconstruction may be deferred until after puberty. Surgical reconstruction is done to most closely associate physical characteristics with the gender role assigned to the individual child. This is best done with the expert advice of a geneticist or other specialist after chromosomal studies are completed. 
Hormonal supplementation may also be necessary depending on the condition present. 
Psychosocial support/counseling is required for the parents (and child when applicable) to address concerns and provide anticipatory guidance specific to the child's development. 

Complications:
Potential complications arise if a diagnosis is made late or in error. Children with apparent gender-specific external characteristics may be found, at puberty, to have internal sexual organ functions specific to the sex opposite from which they were raised. Occasionally, these internal sexual organs are at risk for cancer, and must be surgically removed around the time of puberty.

Call Healthcare Provider:
Call for an appointment with your health care provider if abnormal observable gynecological structures are present, expected female characteristics (breasts, pubic hair) do not develop in girls at puberty, expected menstrual cycle functions do not develop in girls at puberty, or unexpected male characteristics develop in girls. 

 


10. Aarskog syndrome 
An inherited disease characterized by short stature, facial abnormalities, and genital abnormalities.

Content Description:
An inherited disease characterized by short stature, facial abnormalities, and genital abnormalities.

Causes and Risk:
Aarskog syndrome is thought to be either an autosomal recessive or semi-dominant inherited disorder. It is carried on the X chromosome. This disorder affects mainly males, although females may carry some of the features.

Symptoms:
short stature which may not be obvious until the child is between 1 and 3 years old
possible delayed sexual maturation
rounded face
hairline has a "widow's peak"
wideset eyes with droopy eyelids
small nose with nostrils tipped forward
underdeveloped mid-portion of the face
wide groove above the upper lip, crease below the lower lip
delayed eruption of teeth
top portion of the ear folded over slightly
small, broad hands and feet
short fingers and toes with mild webbing
simian crease (single) in palm of hand
mildly concave sternum
protruding umbilicus (navel)
inguinal hernias
"shawl" scrotum, undescended testicles
mild mental deficiency
palpebral slant - eye
pectus excavatum
Signs and Tests:
X-rays will reveal skeletal abnormalities.

Treatments:
Orthodontic treatment may be attempted for some of the facial abnormalities. Trials of growth hormone have not been effective to treat short stature in this disorder.
Complications:
Some recent findings have included cystic changes in the brain and generalized seizures.

Call Healthcare Provider:
Call your health care provider if your child exhibits delays in growth or if you notice any of the irregularities described here.

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19. Menstruation, absent 

The absence of menstrual flow, either primary (menstruation fails to begin before age 16) or secondary (menstruation begins at the appropriate age but later ceases for 6 or more months in the absence of normal causes such as 
Menstruation, absent 
Content Description:
The absence of menstrual flow, either primary (menstruation fails to begin before age 16) or secondary (menstruation begins at the appropriate age but later ceases for 6 or more months in the absence of normal causes such as pregnancy, lactation, or menopause). 


Considerations:
Many perfectly normal females begin to menstruate later than most (the average age is 12 to 14). 

Pregnancy is often the first thought when a period is missed, but there are many reasons for having a late period. 

The incidence of primary amenorrhea in the United States is only 2.5%. The incidence of secondary amenorrhea (due to some cause other than pregnancy) is about 4% in the general population.

Increased risk is associated with extreme and prolonged exercise (particularly without adequate conditioning), body fat content less than 15% to 17%, extreme obesity, and taking hormonal supplements. 

Symptoms associated with amenorrhea may include headache, galactorrhea (breasts produce milk in woman who is not pregnant or breast feeding an infant), visual loss (in rare cases of pituitary tumor), marked weight gain or weight loss, dry vagina, increased hair growth in a "male" pattern (hirsutism), voice changes, and breast size changes. 


Common Causes:

PRIMARY AMENORRHEA 

normal delay of onset (up to age 14 or 15) 
lack of an opening in the membrane at the entrance of the vagina (hymen) 
drastic weight reduction 
congenital abnormalities of the genital system 
chromosomal abnormalities 
extreme obesity 

SECONDARY AMENORRHEA 
pregnancy 
anxiety over pregnancy may cause a missed period, thereby increasing the anxiety even further 
drastic weight reduction 
vigorous athletics 
obesity 
emotional distress 
menopause (normal for women over age 45) 
endocrine disorders such as thyroid disease or pituitary disease/tumor 
drugs such as busulfan, chlorambucil, cyclophosphamide, oral contraceptives, phenothiazines, and non-oral contraceptives (such as Norplant and Depo-Provera) 
dilation and curettage (D&C) 

Home Care:
Treatment depends on the cause. For amenorrhea caused by normal delay of menstruation onset, have patience until age 16. For a missed period that may be caused by pregnancy, consult your obstetrician to confirm pregnancy. For a missed period caused by drastic weight loss or obesity, proper diet is recommended. For a missed period resulting from excessive exercise, use moderation and cut back to a more conservative program. 


Call If:
there is no satisfactory explanation for a missed period. 

What to Expect:
The medical history will be obtained and a physical examination performed. 

A complete health history will be obtained including a menstrual history. Questions may include: 

menstrual history 
Are you a woman presently in a menstruating age range (over 12 and under 55)? 
Are you sexually active? 
Do you use birth control? What type? 
quality 
Was the previous menstrual period a normal amount? 
Are the menses absent or decreased? 
Do you usually have regular periods? 
time pattern 
When was your last menstrual period? 
At what age did you have your first menstrual period? 
Have you ever had normal periods? 
aggravating factors 
What medications do you take? 
How much do you exercise? 
other symptoms 
What other symptoms are also present? 
Is there breast tenderness? 
Is there morning nausea and vomiting? 
Is there a headache? 
Is there a nipple discharge (and not breast feeding)? 
Is there vision loss or change in vision? 
Is there an unintentional weight gain? 
Is there an unintentional weight loss? 
Is there vaginal dryness? 
Is there hair growth in a male pattern? 
Are there voice changes? 
Are there changes in the breast size? 
Is there excessive anxiety? 
A physical examination, including a pelvic examination, will be performed. In patients with secondary amenorrhea, physical and pelvic examinations must rule out pregnancy before diagnostic testing begins. The patient may be encouraged to discuss her fears and, if indicated, may be referred for psychological counseling. 

Diagnostic tests that may be performed include: 
endometrial biopsy 
progestin withdrawal 
prolactin level 
serum hormone levels such as testosterone levels 
thyroid function studies 
pregnancy test (serum HCG) 
FSH (follicle stimulating hormone level) 
LH (luteinizing hormone level) 
TSH (thyroid stimulating hormone; other thyroid function tests) 
karyotype to rule out the presence of Y chromosome abnormality 
CT scan of the head may be done if a pituitary tumor is suspected 
Intervention: 
Treatment depends on the cause of the amenorrhea. If it is caused by another systemic disorder, normal menstrual function usually returns after the primary disorder is treated. For example, if the primary disorder is hypothyroidism, then amenorrhea will be cured when the thyroid disorder is treated with thyroid supplements. 

Pituitary tumors are usually treated with bromocriptine, a drug that inhibits prolactin secretion. Surgery removal may also be suggested. Radiation therapy is usually reserved for situations where other medical or surgical treatment regimens are not successful. 

Hormonal supplements are commonly utilized for those women who do not bleed in response to the progestin challenge test. Daily estrogen supplements are given in conjunction with intermittent progestin for 10 to 14 days per month every 1 to 3 months. 

Women who bleed in response to the progestin challenge test are anovulatory--they do not menstruate because they do not ovulate. This common cause of amenorrhea is treated by inducing ovulation with medication such as clomiphene citrate (Clomid)--but only if the patient desires pregnancy. 

Young women with primary amenorrhea, found to be caused by developmental abnormalities, may require hormonal supplementation, surgery, or both. In any case, psychosocial support and counseling for the patient and family is necessary to address specific concerns and provide guidance regarding anticipated sexual development. 

After seeing your health care provider: 
You may want to add a diagnosis related to amenorrhea to your personal medical record.


11. Genetics 

12. Autosomal dominant 

13. SEX-LINKED DOMINANT 

14. SEX-LINKED RECESSIVE 

15. Autosomal recessive 

16. Genetic counseling and prenatal diagnosis 

17. Chromosome 

18. Gene 

19. Menstruation, absent 

The absence of menstrual flow, either primary (menstruation fails to begin before age 16) or secondary (menstruation begins at the appropriate age but later ceases for 6 or more months in the absence of normal causes such as 


 

 


 






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