RE: Fertility and Lack of Periods

[Guest guest]

Hi

I am 28 and have BPES. I went to my

GP after failing to conceive and went through various tests and my consultant

told me that I am heading for POF and although I do have a very long but fairly

regularly cycle my body is fighting hard to release eggs but I don’t have

many left so my body thinks that I am ovulating (hence period) but I do not

ovulate (hence no pregnancy).

I have included a post made by a fellow

BPES as I found it really easy to understand.

Kind regards

Bryony

From: jeroenkleinen, Sent: 11 November 2005

14:13

Hi everybody,

I read the recent posts about type I and type II BPES and infertility. I

noticed that there are a lot of questions and uncertainties. Maybe I can

clarify one and other. I have a degree in medicine and although I am now

specializing in psychiatry, I am familiar with general medicine matters.

Moreover, recently I spoke with Dr. Debaere, who's a world expert on genetic

research in BPES.

First

I'd like to explain something about genetics.

Humans have 46 chromosomes. We have 2 Sex chromosomes, XX

(female) or XY (male), and 44 autosomal chromosomes. Each parent Passes 23

chromosomes (22 autosomal and 1 sex chromosome) so you get 23 chromosome

" couples " .

Chromosomes consist of DNA. Specific regions on chromosomes are called genes.

There are a lot of genes (eye-colour, hair-colour, ...etc).

In our cells there is a sophisticated system that can translate

the information which is encoded in the DNA, the building material of genes,

and form proteins. So a gene actually stands for a specific protein (like there

is a gene for insulin). How do genetic disorders arise? Genetic disorders arise

when there is a mutation (change) in the DNA within a specific gene region.

This alters the gene and, thus, alters the protein which is formed. This is

important. For example insulin which is different from normal insulin might not

be able to lower blood sugar levels.

Once a genetic disorder has arisen, which can happen

spontaneously, it can be passed from parents to children. Genetic disorders can

be " dominant " or " recessive " . When a genetic disorder is

dominant only one of the two genes in the gene couple (the one from father or

the one from mother) has to be altered to give rise to the disorder. When a

genetic disorder is recessive both the father and the mother need to pass an

altered gene to give rise to the disorder.

What

about BPES?

BPES is an autosomal dominant genetic disorder. The gene is

called FOXL2 and is located on chromosome 3. Chromosome 3 is an autosomal

chromosome and the fact that the disorder is dominant means that you only need

to have one altered gene to get the disorder. The different types (I and II) of

BPES were first described in 1983 (Zlotogora). Type I includes the four major

features (blepharophimosis, ptosis, epicanthus inversus and telecanthus) and

female infertility caused by premature ovarian failure (POF). Type II includes

only the four major features.

The difference between Type I and II is the position on which

the DNA, and thus the gene, is mutated (altered). There are several (at least

21) known mutations of the FOXL2 gene. Depending on the location these

mutations give rise to a shortened protein or an extended protein. The ones

that give rise to a shortened protein cause type I and the ones that give rise

to an extended protein cause type II.

For some mutations it's not clear which type they cause. During

a genetic investigation, which takes about three months, they try to find a

known mutation to see if they are able to tell which type of BPES the affected

person has.

What

about the management of POF?

Management of POF needs to address the two major medical issues:

hormone replacement therapy (HRT) and infertility.

HRT:

Oestrogen and progesterone replacement therapy is usually indicated. No

comparative data are available to guide estrogen use in young women as most

studies on HRT involve post-menopausal women, but the advantages often outweigh

the possible side-effects.

Infertility:

No effective treatment for infertility exists. Adoption and oocyte (egg)

donation are among the available options. However, more recently there are some

new therapies under investigation.

Ovarian tissue and oocyte cryopreservation (freezing in) hold

promise for fertility preservation in the women most likely to undergo ovarian

failure. Adolescent girls with BPES who have a risk of developing POF could be

candidates for ovarian (not necessarily the complete ovary so it's not

necessary to cause surgical menopause) cryopreservation. This cryopreserved

ovarian tissue can be used in two ways: retransplanting and in vitro

stimulation. The first live birth after retransplantation was reported in 2004

(this was not a woman with BPES). Note that these techniques are not (yet)

applied on a large scale.

Women with POF often reach menopause when they are 25-30 years old.

In the old days, when women conceived at a younger age, this was

not necessarily a problem. Nowadays most women start a career and think of

children at an older age which makes POF more of an issue.

Endocrinologic and gynecologic follow-up are advised in affected

females in whom the BPES type is unknown or in whom BPES type I is suspected

based on a positive family history or suggestive FOXL2 mutation.

I myself had a blood sample taken one and a half month ago. We are planning to

have more kids and we just want to know which type I have to be as prepared ad

possible. I do not have the result yet. It takes about three months.

I hope I was of any help. If some things are unclear please ask questions.

Greetings,

Jeroen.

From:

blepharophimosis [mailto:blepharophimosis ] On Behalf Of strangelene

Sent: 11 August 2006 13:35

To:

blepharophimosis

Subject: blepharophimosis

Fertility and Lack of Periods

After doing some research on BPES, I was surprised to

discover that

it was linked to the fact that I have very irreggular periods. In

fact, I maybe have one a year, if that. I have been going to a

gynecologist for the last few months trying to make sure things are

in order so I dont have any female problems further down the line

because apparently not having a period is not good for your body. I

have explained BPES to my gynecologist and told him that I believe

that I may have undergone Premature Ovarian Failure several years

ago. He instructed me to have some lab work done where we did a

chromosome analysis to see if there was any reason why I am not

having my period and checked my estrogen levels to see if I have had

POF. He said that my chromosome analysis and my estrogen levels were

normal which surprised me. I thought BPES was a mutation on a

chromosome and I thought for sure that it would show up on a

chromosome analysis. I also was sure that I had POF as well.

Nevertheless, he put me on Provera to start my period and when that

didnt work we tried Prometrium which also didnt work. Now he is

resorting to OVCON 35 which is a birth control pill. I have had my

period on birth control pills. But if I dont have POF, can I get

pregnant? And if so, regulating my period by birth control pills

certainly does nothing to help me get pregnant. To this day, I have

not ever been pregnant and I am 32 years old and it isnt for lack of

trying. I just feel like he is not taking into account that I have

BPES. Should I search for gynecologists that are familiar with the

condition if there are any or should I see another type of doctor

for this? Does anyone have any experience in this area? Is it

necessary to have my period? As most women could understand, I dont

necessarily want to have my period but if its necessary then I

understand. I would appreciate any input on this subject. Thanks!

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[Guest guest]

Hi there thanks for replying.Interesting to hear you had a chromozone analysis that came back normal.I like you would have thought BPES would have shown up as a mutation.I wrote the letter about HRT on behalf of my daughter.Her periods have stopped after coming off the pill which obviously only gave a false period.She has been to the doctors who gave her blood test to check for FSH and LH levels.These were found to be too high for her age and more normal for a menopausal woman.She is 23 !. She has ben told to consider taking HRT but she is not sure that she wants to .They have said there is no definate answer to the fertility problem at the moment but as it is quite rare I believe there are not many cases to compare with.Thanks for replying.strangelene <arlenevarela@...> wrote: After doing some research on BPES, I was surprised to discover that it was linked to the fact that I have very irreggular periods. In fact, I maybe have one a year, if that. I have been going to a gynecologist for the last few months trying to make sure things are in order so I dont have any female problems further down the line because apparently not having a period is not good for your body. I have explained BPES to my gynecologist and told him that I believe that I may have undergone Premature Ovarian Failure several years ago. He instructed me to have some lab work done where we did a chromosome analysis to see if there was any reason why I am not having my period and

checked my estrogen levels to see if I have had POF. He said that my chromosome analysis and my estrogen levels were normal which surprised me. I thought BPES was a mutation on a chromosome and I thought for sure that it would show up on a chromosome analysis. I also was sure that I had POF as well. Nevertheless, he put me on Provera to start my period and when that didnt work we tried Prometrium which also didnt work. Now he is resorting to OVCON 35 which is a birth control pill. I have had my period on birth control pills. But if I dont have POF, can I get pregnant? And if so, regulating my period by birth control pills certainly does nothing to help me get pregnant. To this day, I have not ever been pregnant and I am 32 years old and it isnt for lack of trying. I just feel like he is not taking into account that I have BPES. Should I search for gynecologists that are familiar with the condition if there are any or

should I see another type of doctor for this? Does anyone have any experience in this area? Is it necessary to have my period? As most women could understand, I dont necessarily want to have my period but if its necessary then I understand. I would appreciate any input on this subject. Thanks!

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