RE: Infertility question

May 8, 2006

Hi Lorraine

I am 28 (only just!!!) and have been diagnosed

with premature ovarian failure.

Your doctor can give you a blood test to

test your hormone levels to see where you are at. If you print off info and

take it along as most GP’s know little about BPES. Below is some info

that was posted on the site a while ago but it is very good:

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.

Good luck

Bryony

From:

blepharophimosis

[mailto:blepharophimosis ]

On Behalf Of lorainne30

Sent: 08 May 2006 18:05

blepharophimosis

Subject: blepharophimosis

Infertility question

Hi

I am female and aged 29 and was born with BPES and had the operation

when I was about 3 years old. It was inherited becuase some males and

females on my dads side of the family have it. As my eyes look more or

less normal I have not given it any thought until I read an article

recently that it may cause infertility. My Dad has it mildly and did

not have an operation (not sure if they could do operations like that

when he was young) - his eyes just look a bit small and droopy. My aunt

(Dads sister) had it severely but she had a baby quite normally when

she was my age. My grandad (Dads dad) also had it and he fathered four

children. I am now really scared that I am infertile although I do not

have any other health problems or problems with my periods or other

symptoms. Does anyone have any information which may help???

Lorainne

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May 9, 2006

Bryony Thanks so much for all this info - will go and educate my GP re BPES (!!) and get a fertility test. LorainneBryony <bryony2@...> wrote: Hi Lorraine I am 28 (only just!!!) and have been diagnosed with premature ovarian failure. Your doctor can give you a blood test to test your hormone levels to see where you are at. If you print off info and take it along as most GP’s know little about BPES. Below is some info that was posted on the site a while ago

but it is very good: 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. Good luck Bryony From: blepharophimosis [mailto:blepharophimosis ] On Behalf Of lorainne30Sent: 08 May 2006 18:05blepharophimosis Subject: blepharophimosis Infertility question HiI am female and aged 29 and was born with BPES and had the operation when I was about 3 years old. It was inherited becuase some males and females on my dads side of the family have it. As my eyes look more or less normal I have not given it any thought until I read an article recently that it may cause infertility. My Dad has it mildly and did not have an operation (not sure if they could do operations like that when he was young) - his eyes just look a bit small and droopy. My aunt

(Dads sister) had it severely but she had a baby quite normally when she was my age. My grandad (Dads dad) also had it and he fathered four children. I am now really scared that I am infertile although I do not have any other health problems or problems with my periods or other symptoms. Does anyone have any information which may help???Lorainne --No virus found in this incoming message.Checked by AVG Free Edition.Version: 7.1.392 / Virus Database: 268.5.5/334 - Release Date: 08/05/2006 --No virus found in this outgoing message.Checked by AVG Free Edition.Version: 7.1.392 / Virus Database: 268.5.5/334 - Release Date: 08/05/2006

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May 10, 2006

Hi Lorraine, not having problems with your menstrual cycle is a good sign that everything is working as it should do. Why not try an ovulation test at home with one of those kits you can but over the counter that might be all you need to do to reassure yourself. jx lorainne30 <lorainne30@...> wrote: HiI am female and aged 29 and was born with BPES and had the operation when I was about 3 years old. It was inherited becuase some males and females on my dads side of the family have it. As my eyes look more or less normal I have not given it any thought until I read an article recently that it may cause infertility. My Dad has it mildly and did not have an operation (not sure if they could do operations like that when he was young) - his eyes just look a bit

small and droopy. My aunt (Dads sister) had it severely but she had a baby quite normally when she was my age. My grandad (Dads dad) also had it and he fathered four children. I am now really scared that I am infertile although I do not have any other health problems or problems with my periods or other symptoms. Does anyone have any information which may help???Lorainne

May 10, 2006

Hi

I agree that if your cycles are regular

that sounds promising, but those kits wouldn’t be a help because the

hormone that triggers the kit is still present when you have POF. I was using

the kits to try and fall pregnant before I was diagnosed.

To be honest the blood test I had was

quick and painless with results in a couple of days.

Best of luck

B

Xx

From:

blepharophimosis

[mailto:blepharophimosis ]

On Behalf Of JULIE IKEN

Sent: 10 May 2006 01:10

blepharophimosis

Subject: Re: blepharophimosis

Infertility question

Hi Lorraine,

not having problems with your menstrual cycle is a good sign that everything is

working as it should do. Why not try an ovulation test at home with one of

those kits you can but over the counter that might be all you need to do to

reassure yourself. jx

lorainne30

<lorainne30@...> wrote: