Polycystic ovary syndrome – PCOS

Not all women with polycystic ovary syndrome (PCOS) will have the same symptoms or laboratory findings. Here are some common issues:

Ovulation problems
Anovulation               No ovulation
Oligo-ovulation         Infrequent or irregular ovulation

Ovulation problems
No ovulation

Infrequent or irregular ovulation

Irregular menstrual cycles (as a result from ovulation problems)
Amenorrhea                Woman who does not have periods
Oligomenorrhea           Infrequent periods
Hypermenorrhea         Periods that occur too frequently
Menorrhagia                Heavy periods and/or those that last for many days or weeks
Metorrhagia                 Bleeding or spotting that occurs in between apparently normal periods

Irregular menstrual cycles
(as a result from ovulation problems)

Woman who does not have periods

Infrequent periods

Periods that occur too frequently

Heavy periods and/or those that last for many days or weeks

Bleeding or spotting that occurs in between apparently normal periods

  • Enlarged ovaries
  • Large number (>10) of tiny follicles (cysts) just under the surface of the ovaries
  • The center of the ovaries is echogenic and with very few follicles seen.
Role of diet in causing problems with ovulation

It is estimated that about one in six couples will be faced with the problem of infertility at some point during their reproductive lifetime. Of those couples, couples who face problems with make up 18-30% of these cases. Several factors such as extremes of body weight (both obese and underweight) may affect the likelihood of ovulation.

Premature Ovarian Failure and Infertility

Premature Ovarian Failure (POF) is a disorder affecting the ability of a woman’s ovaries to function correctly. POF affects approximately 1% of the female population and is characterised by absence of menstrual bleeding, low estrogen levels, and possible onset of autoimmune diseases in women below 40.

However, POF is not permanent in all women. Remission of the disease is possible. In fact, up to 5% of women with POF may conceive without any specific fertility treatment. Therefore, POF is more commonly known as ovarian insufficiency.

However, POF is a common cause of infertility. Often, women with infertility and absence of menstrual cycles will be misdiagnosed with an ovulation problem and referred to a fertility specialist for ovulation drugs, which will not help women with POF.

Fragile X and the FMR1 gene

Humans have 23 pairs of chromosomes. One pair, the sex chromosomes, is responsible for determining whether your gender. Females have two X chromosomes while males have one X chromosome and one Y chromosome. Each chromosome is made up of thousands of genes, all of which have specific functions.

Genes are made up of a series of chemicals, referred to as DNA. There are four separate chemical components of DNA, each represented by a single letter G, C, T, and A.

There is a gene in the X chromosome known as the FMR1 gene which produces the FMR1 protein. This protein is known to be critical to intellectual development and functioning. Within this gene, there are repeating DNA sequences known as CGG repeats. Every living person has an FMR1 gene and typically contains approximately 5 to 40 CGG repeats.

Fragile X is a condition in which the number of CGG repeats in the FMR1 gene is higher than normal. Doctors divide people into groups based on how many CGG repeats are present in their FMR1 gene. A “premutation” results when individuals have between 55 and 200 repeats. Such individuals are commonly referred to as Fragile X “carriers” (FX carriers). Most FX carriers are unaffected intellectually because they have normal levels of the FMR1 protein and may be unaware that they are FX carriers.

In individuals with Fragile X syndrome, the number of CGG repeats is over 200. This expanded number of repeats is called a “full mutation” and it causes the FMR1 gene to “turn off” or not work properly.

Female Athlete Triad

Any situation which disrupts the balance between the amount of calories that a woman eats and the number of calories she burns through her activities can interfere with reproductive functions:

  • Inadequate calorie intake
  • Excessive calories being burned
  • Lack of energy for the brain to produce electrical signals

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