N-Trivia

Posted: 09 Jan 2011 07:06 PM PST

Definition

Turner syndrome or Ullrich-Turner syndrome is a chromosomal inability where one or all parts of a sex chromosome are absent. It is also called Gonadal dysgenesis. This abnormality is a genetic disorder that affects a girl’s development.

Frequency

Affects about 1 in every 2500 live-born girls worldwide
Turner syndrome only occur in females
Turner syndrome is present at conception or following the first cell division and remains throughout life

Risk Factors

Genetic predisposition
Females

Pathophysiology

Normally, females have two X chromosomes – XX. In Turner syndrome, one those X chromosome either is absent or has missing components or has an abnormality. The effects of the condition vary widely among girls with Turner syndrome. It all depends on how many of the body’s cells are affected by the changes to the X chromosome.

Signs and Symptoms

Short stature. Girls with Turner syndrome who aren’t treated for short stature reach an average height of about 4 feet 7 inches (1.4 meters).
Lymphedema (swelling) of the hands and feet (edema or extra fluid in the hands and feet)
Broad chest and widely spaced nipples
Low hairline at the back of the neck
Low-set ears. Differently shaped ears that are set lower on the sides of the head than usual
Reproductive sterility
Underdeveloped ovaries gonadal streak. Turner syndrome prevents the ovaries from developing properly, which affects a girl’s sexual development and the ability to have children.
Amenorrhea or the absence of menstrual period. Because the ovaries are responsible for making the hormones that control breast growth and menstruation, most girls with Turner syndrome will not go through all of the changes associated with puberty unless they get treatment for the condition.
Obesity and increased weight
Shield shaped thorax
Shortened metacarpal
Small fingernails
Webbed neck (extra folds of skin extending from the tops of the shoulders to the sides of the neck)
Poor breast development
Horseshoe kidney
Visual impairments of sclera, cornea and glaucoma
Ear infections
Hearing loss
Hips are not much bigger than the waist (high waist-to-hip ratio)
Has problems with concentration, memory and attention
Has problems with math, social skills and spatial relations
Abnormal bone development (especially the bones of the hands and elbows)
A larger than usual number of moles on the skin

Diagnosis

Amniocentesis (during pregnancy)
Karyotype or a chromosome analysis – test of choice

Treatment

There is no cure for Turner's syndrome. However, the symptoms can be managed by the following:

Growth hormone
Estrogen replacement therapy

image from hubpages.com

Signs of Pregnancy

Posted: 09 Jan 2011 06:14 PM PST

Pregnancy Confirmation

Women note changes in their bodies that make them aware that they are pregnant when pregnancy occurs. Every pregnant women wish to confirm a pregnancy as soon as possible. Often, confirmation is made by ultrasonography. This test makes it possible to view the fetal outline and observe fetal heartbeat in the early stage of pregnancy.

In traditional way, diagnosis is pregnancy is usually made based on the symptoms experienced by the woman and signs observed by the health care provider. These signs and symptoms are classified in three groups:

Presumptive signs or indications (subjective signs observed and reported by the woman)
Probable signs or indications (objective signs observed by examiner)
Positive signs or indications (those than can be caused only by pregnancy).

The diagnosis of pregnancy cannot be solely made on the presumptive or probable signs because they may have other causes.

Presumptive signs with other possible causes

First trimester:

Amenorrhea – absence of menstruation. Other possible causes of amenorrhea are: emotional stress, strenuous physical exercise, endocrine problems, chronic disease, early menopause, anovulation, low body weight.
Nausea and vomiting (Morning sickness) – begins about 6 weeks after the last menstrual period and usually disappears by about 14 weeks. Other possible causes include: gastrointestinal virus, food poisoning, emotional stress.
Breast changes – begins at about the sixth week of pregnancy. The expectatnt mother experiences breast tenderness, tingling, feelings of fullness, increase in size and pigmentation of the areaolae. Other possible causes are premenstrual changes and the use of oral contraceptives.
4. Fatigue – other possible causes are illness, stress and sudden lifestyle changes.
Urinary frequency – urinary tract infection may also cause urinary frequency.

Second trimester:

Quickening – other possible causes are intestinal gas, peristalsis or pseudocyesis
Increased skin pigmentation: chloasma, linea nigra - Other possible causes are premenstrual changes and the use of oral contraceptives.
Striae gravidarum

Probable Signs

First trimester:

Chadwick's sign – can also be possibly caused by hormonal imbalance.
Goodell's sign – can also be possibly caused by hormonal imbalance.
Hegar's sign – can also be possibly caused by hormonal imbalance.
Positive HCG – Hydatidiform Mole can cause a positive HCG

Second trimester:

Enlarged abdomen – could also be caused by abdominal or uterine tumors
Braxton hicks contractions – presence of myomas can cause false and painless contractions
Ballottement – other possible cause of this occurrence is the presence of uterine or cervical polyps.

Positive signs

First trimester:

1. Ultrasound evidence

Second trimester:

1. Fetal heart tones

2. Fetal movements

3. Fetal outline on x-ray