RE: 15 year old daughter with BPES type 1

[Guest guest]

Hi

About

4 years ago Jeroen - who has a degree in medicine - posted this message in

connection with a strand of conversation.

It

is very nicely written and easy to understand - so I thought I would post it

again so that new people in the group can benefit from it. Please think of

this as a good source of information, which you could discuss with your doctor.

Don’t consider it as a substitute for professional advice, because each of us

is different.

Regards

Shireen

Mohandes

London,

England

>

> Sent: 11 November 2005 14:13

> blepharophimosis

> Subject: blepharophimosis Type I or type II? Recent

developments.

>

> 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

> andtelecanthus) 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 least21) 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 surgicalmenopause)

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 hjwilga

Sent: 02 August 2009 21:28

blepharophimosis

Subject: blepharophimosis 15 year old daughter with BPES type 1

Hello! I'm new to this group trying to find out

from other women with BPES type 1 at what age ovarian failure occured. We were

just informed Fri. that my daughter's test results came back from Europe and

she definately has Type 1. We are exploring avenues with reproduction

specialists for possible egg freezing and advice? I'm lost! Thank-You

..