Blepharophimosis Type I vs, Type II

[Guest guest]

I just recently ran across a article that states there are 2 types of BPES... This comes as a surprise to me. I have had this "disease" for 29 years and wanted to know if anyone actually has type I... (which includes female infertility). Is this something i should be worried about? I will be attempting to have babies in the next year or two and wonder how i would know which type of BPES i have.... Any input on this would be great..... Thank you..

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[Guest guest]

Hi

Female infertility is an issue. Below is

a posting from the site ages ago. Very easy to understand!

Good luck

B

Xx

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.

From:

blepharophimosis

[mailto:blepharophimosis ]

On Behalf Of Knerem

Sent: 17 May 2006 14:25

blepharophimosis

Subject: blepharophimosis

Blepharophimosis Type I vs, Type II

I just recently ran across a article that states there are 2 types of

BPES... This comes as a surprise to me. I have had

this " disease " for 29 years and wanted to know if anyone

actually has type I... (which includes female infertility). Is this

something i should be worried about? I will be attempting to have babies

in the next year or two and wonder how i would know which type of BPES i

have....

Any input on this would be great..... Thank you..

Sneak preview the all-new

.com. It's not radically different. Just radically better.

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