Re: Re: Infertility in Type 1 BPES

[Guest guest]

Beth ~

My baby girl has Blephs and I don't know if it is 1 or 2. I am not to sure the ins and outs of the infertility issue. Could you explain to me the possibilities? Thank you! ~ DeMartile

bethgordon03 <bethgordon03@...> wrote:

HiI am 34 and I don't know for sure if I have type 1, but I do have some signs of POF, if you want to you can email me out of this group just because I have a long history of "symptoms" but I did have a baby. None of my doctors ever heard of this causing POF, I only learned about through this group. Beth>> Hi> My name is Kathy and I have a 19 year old daughter with BPES Type 1. > When she was born the doctors didn't tell me that this version of the > syndrome could cause infertility. We just found out this past weekend > when her cousin couldn't conceive that it was caused by BPES. I have > an appointment with a fertility specialist next week to discuss her > options. She hasn't had

any problems yet but we're not sure if she is > already in premature ovarian failure. I would love to hear from > anyone that has an older daughter with the syndrome what they did.>

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[Guest guest]

Hi

This information may help you. I have extracted some paragraphs that I think are relevant for your question.

I would like to recommend that you print the entire article and send it to your doctor. Say to them "I'd like to make an appointment with you to discuss the items listed in this article".

Regards

Shireen

The full article is here:

http://www.geneclinics.org/servlet/access?db=geneclinics & site=gt & id=8888891 & key=yvyThuThGZXK5 & gry= & fcn=y & fw=suti & filename=/profiles/bpes/index.html

Classic blepharophimosis syndrome (BPES) is a complex eyelid malformation invariably characterized by four major features: blepharophimosis, ptosis, epicanthus inversus, and telecanthus. Two types of blepharophimosis syndrome have been described: BPES type I includes the four major features and female infertility caused by premature ovarian failure (POF); BPES type II includes only the four major features. Other ophthalmic manifestations associated with BPES include lacrimal duct anomalies, amblyopia, strabismus, and refractive errors. Minor features include a broad nasal bridge, low-set ears, and a short philtrum. Individuals with BPES and an intragenic disease-causing mutation are expected to have normal intelligence.

Testing

Females with premature ovarian failure have endocrinologic findings of hypergonadotrophic hypogonadism:

Elevated serum concentration of follicle-stimulating hormone (FSH) and luteinizing hormone (LH) Decreased serum concentration of estradiol and progesterone

Ultrasonography reveals a small hypoplastic uterus and streak ovaries. Typical anatomic pathologic findings of the ovary are "resistant-ovary syndrome" (presence of primordial follicles, but no follicular development) progressing into a "true premature menopause" (presence of scars in place of primordial follicles)

Evaluations at Initial Diagnosis

Individuals should be thoroughly examined by a (pediatric) opthalmologist for visual acuity measurement, refraction, measurement of ocular movements and strabismus, and measurement of palpebral apertures and eyelid elevation. Individuals with evidence of amblyopia or strabismus should be referred to a pediatric ophthalmologist for appropriate management [beckingsale et al 2003].

Individuals with BPES should be referred to a clinical geneticist for an appropriate genetic workup and counseling. In girls affected with BPES, the family history can already give an indication of the type of BPES (association with subfertility or infertility in affected females). In uninformative families or simplex cases (i.e., in which only one family member is affected), molecular genetic testing may be helpful for assessing for premature ovarian failure risk in some cases.

Treatment of Manifestations

Management requires the input of several specialists including a geneticist, pediatric ophthalmologist, orthoptist, oculoplastic surgeon, pediatric endocrinologist, reproductive endocrinologist, and gynecologist.

Timing of eyelid surgery is controversial; it involves weighing the balance of early surgery to prevent deprivation amblyopia and late surgery to allow for more reliable ptosis measurements, the latter of which provides a better surgical outcome. Surgery is hampered by the dysplastic structure of the eyelids [beckingsale et al 2003]. The surgical management traditionally involves a medial canthoplasty for correction of the blepharophimosis, epicanthus inversus, and telecanthus at three to five years of age, followed about a year later by ptosis correction, which usually requires a brow suspension procedure. Autogeneous fascia lata gives excellent results, but is not reliable before 3.5 to four years of age because of a lack of available autogeneous fascia lata. In children below this age, silastic slings give good results and are easily adjusted if necessary.

For individuals with severe ptosis, surgical ptosis repair is recommended before the age of three years, followed by medial canthoplasty if necessary. For individuals with moderate ptosis, correction of ptosis may be deferred until the age of five years when surgery is often recommended for cosmetic reasons before starting school.

Management of POF needs to address the two major medical issues: hormone replacement therapy (HRT) and infertility.

HRT. Estrogen 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 [Goswami & Conway 2005].

Infertility. No effective treatment for infertility exists. Adoption and oocyte donation are among the available options but require guidance and counseling [Hovav et al 1995 , Goswami & Conway 2005].

Surveillance

The frequency of ophthalmic follow-up is variable depending on the individual's age, procedures performed, and results of visual testing. 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. Monitoring of the ovarian status can be done by ultrasonography of ovaries and uterus, hormonal measurements (FSH, LH, estrogen, progesterone), and following the natural history of menses (age of menarche and ages of onset of oligomenorrhea and secondary amenorrhea).

Therapies Under Investigation

Ovarian tissue and oocyte cryopreservation hold promise for fertility preservation in the women most likely to undergo ovarian failure (reviewed in Goswami & Conway 2005). Adolescent girls with BPES who have a risk of developing POF could be candidates for ovarian cryopreservation. Cryopreserved ovarian tissue could be used in two ways: autograft and in vitro folliculo-oocyte maturation. Cryopreserved human ovarian tissue has been found to be functional after retransplantation. The first live birth after orthoptic transplantation of cryopreserved ovarian tissue was reported recently [Donnez et al 2004].

Note: (1) Cryopreservation has not yet been reported in BPES. (2) Children who are at risk for POF are most likely to benefit from cryopreservation as their ovaries contain more primordial follicles than those of adult women; it is expected that by the time these children are mature and need their ovarian tissue, the modalities for its optimal use would become available. (3) At the time that they might wish to consider an IVF procedure, adult women with BPES usually do not have sufficient appropriate primordial follicles for embryo cryopreservation.

Search ClinicalTrials.gov for access to information on clinical studies for a wide range of diseases and conditions.

From: blepharophimosis [mailto:blepharophimosis ] On Behalf Of j jSent: 13 October 2005 20:14blepharophimosis Subject: Re: blepharophimosis Re: Infertility in Type 1 BPES

Beth ~

My baby girl has Blephs and I don't know if it is 1 or 2. I am not to sure the ins and outs of the infertility issue. Could you explain to me the possibilities? Thank you! ~ DeMartile

bethgordon03 <bethgordon03@...> wrote:

[Guest guest]

My heart goes out to you and your daughter. having a daughter myself now ( shes 4 months) I cried just reading this. Children were so much a part of my dreams growing up. I can;t imagine having to explain this to my daughter. I don't know what to say to you except, Bless you and good luckl with everything...I hope it works out...Sharon z942271 <z942271@...> wrote:

Maree,I live in the state of Missouri in the US. I am divorced from 's father so I have limited access to the family history. I do know that for 4 generations the women with BPES have been unable to conceive even one child. One cousin recently had three children with one pregnancy by having some sort of uterine lining transplant and then Invetro Fertilization. As you can imagine my home has been very sad this week. How do you explain to your 19 year old daughter that children may not be an option for her? She has been dating the same boy for 3 years and they both love children. She asked him if he would still marry her if she couldn't have children and he said yes but this breaks my heart. I keep reminding her that there are so many more options today than there were 25 years

ago. We are going to see an Endrocinology Fertility specialist tomorrow. I emailed the researcher that is running the study of BPES and infertility in London. I understand that living in the US won't have the resources to join the study but thought if I shared what information I knew about the family maybe he would share any information he could with me. If I hear from him I will let you know what he says. -- In blepharophimosis , "chinagal46" <gourley@i...> wrote:>> Welcome Kathy,> My name is Maree & I live in NZ (near Australia!)> I know your concerns about your daughters fertility `worries`. My > daughter is also 19 & has BPES. Really there is not a lot that can be > done if they do go through POF although I have heard of the > possibility of having eggs frozen while there is fertility, to be > available later if the person

wishes to conceive. For ourselves, I > also have BPES & had only one child at age 29yrs. I then had > fertility problems, trying to have more children. The drs & > specialists were not aware of the link with BPES. I am now 48yrs. Now > that I know about the link, I feel sure that I must be Type 1. We > have both had blood tests done to determine what type we are but are > still awaiting results - that was 10 months ago so hoping it will be > soon. > Does your daughters cousin have BPES? & do you also? Like to hear > about your visit to the fertility specialist if you don`t mind > sharing. Can email me direct if you want.> > Talk again soon> Maree> > > >> > Hi> > My name is Kathy and I have a 19 year old daughter with BPES Type >

1. > > When she was born the doctors didn't tell me that this version of > the > > syndrome could cause infertility. We just found out this past > weekend > > when her cousin couldn't conceive that it was caused by BPES. I > have > > an appointment with a fertility specialist next week to discuss her > > options. She hasn't had any problems yet but we're not sure if she > is > > already in premature ovarian failure. I would love to hear from > > anyone that has an older daughter with the syndrome what they did.> >>