How do you investigate primary amenorrhea?
Common causes of primary amenorrhoea. The initial evaluations include transabdominal ultrasound and serum FSH, E2, TSH and prolactin. Subsequent investigations largely depend on presence of the uterus and FSH/E2 levels (Figure 1).
How do you check for abnormal chromosomes?
Chorionic Villus Sampling ( CVS ) and amniocentesis are both diagnostic tests that can confirm whether or not a baby has a chromosome abnormality. They involve sampling of the placenta ( CVS ) or amniotic fluid (amniocentesis) and carry a risk of pregnancy loss of between 0.5 and 1 per cent.
What is the most common chromosomal abnormality causing gonadal failure and primary amenorrhea?
Gonadal dysgenesis includes most commonly Turner syndrome, which makes up to 43% of primary amenorrhea cases. This condition causes cessation or absence of menses due to a functional disorder of the hypothalamus.
What kind of doctor treats amenorrhea?
Contact your family doctor or a gynecologist if you think you have amenorrhea. If you’ve never menstruated, the doctor will review your health history and do an exam. A regular physical and pelvic check can show signs of puberty. For secondary amenorrhea, the doctor will begin with a pregnancy test.
What are the criteria for a diagnosis of amenorrhea?
Amenorrhea may be defined as 1) the absence of menstruation for 3 or more months in women with past menses (i.e., secondary amenorrhea) or 2) the absence of menarche by the age of 15 years in girls who have never menstruated (i.e., primary amenorrhea).
Can blood test detect chromosomal abnormalities?
is a blood test. It looks at small pieces of DNA from the pregnancy that can be found in the blood. These pieces can be tested to estimate the chance for Down syndrome, trisomy 18, trisomy 13, and sex chromosome abnormalities. This test is sometimes called noninvasive prenatal testing (NIPT).
What are causes of primary amenorrhea?
Common causes of primary amenorrhea include:
- Chromosomal or genetic problem with the ovaries (the female sex organs that hold the eggs).
- Hormonal issues stemming from problems with the hypothalamus or the pituitary gland.
- Structural problem with the reproductive organs, such as missing parts of the reproductive system.
Why does amenorrhea occur in Turner syndrome?
Turner Syndrome (TS) due to the complete deletion of all or part of the X chromosome results in primary amenorrhea. TS patients are phenotypic females with short stature, gonadal dysgenesis, and little or no development of secondary sex characteristics.
How do you evaluate anovulation?
The most defining feature in diagnosing anovulation is simply the absence of regular menstruation. Other tests that may be performed during the evaluation include: Testing blood progesterone levels. Testing blood thyroid and prolactin levels.
How is a chromosome test used to diagnose amenorrhea?
Chromosome evaluation. 1, 2, 3 This test, also known as a karyotype, involves counting and evaluating the chromosomes from cells in the body to identify any missing, extra, or rearranged cells. Results from this evaluation can help determine the cause of the chromosomal abnormality causing primary or secondary amenorrhea.
How to diagnose amenorrhea with no secondary sexual characteristics?
Diagnosis of patients with amenorrhea and no secondary sexual characteristics is based on laboratory test results and karyotype analysis.
What do you need to know about amenorrhea after pregnancy?
Amenorrhea. Amenorrhea is defined as the absence of menstrual flow and is classified as either primary or secondary. After pregnancy is excluded by hCG testing, initial evaluation includes thyroid stimulating hormone (TSH), prolactin, follicle stimulating hormone (FSH), and luteinizing hormone (LH) tests.
How is Amenorrhea defined in the medical field?
Amenorrhea is defined as the absence of menstrual flow and is classified as either primary or secondary. After pregnancy is excluded by hCG testing, initial evaluation includes thyroid stimulating hormone (TSH), prolactin, follicle stimulating hormone (FSH), and luteinizing hormone (LH) tests. Quick Answers for Clinicians