usg shows undetectable to very small uterus with ovaries not clearly visualized with associated blindness.
Regarding blindness investigations by opthalmologists diagnosed retinitis pigmentosa.To START WITH her FSH and LH levels were in ranges of 78miu/ml and 76imiu/ml respectively,along with AMH in range of 0.13indicating poor reserve .After giving DHEAS her ovaries have become more apparent although no access to FSH receptor OR lh RECEPTOR MUTATION and low dose wysolone added as well to cover any antibodies -any further suggesions..Stem cell regarding eye not available and no treatment available within reach
although her uterus has enlarged with estradiol and progesterone course and she gets withdrawl bleed her FSH has come down to around 20's although not repeated after full 3 months although cant0point out the cause of apof awith a normal karyotype as it is turners or mosaicism which accelerate meiotic division and loss of follicles but with normal karyotype but for rare cases in scandinavia occasiona l FSH/LH receptor mutations have neen reported
that is what i said to rule out FSH receptor mutation or LH receptor mutation which have been reported in occasional cases more so in Scandinavia etc we do not have the exact facility and trying to get it done with a very high cost of RS 30,000 for each codon mutation that is possible it is not worthwwhile for a poor patient as we cannot offer her much treatment further than being done.
If the patient is healthy married and wishing a child then the Ideal management for POF is --Donated embryo transfer after 3- to 6 cycles E2 and prog withdrawal after a Hysteroscopy and Mock ET. Kindly rule out endometrial TB,auto immunity and diabetes.
patient is a young unmarried girl who is blind without an answer for her blindness so that has to be kept in mind before parents consider marriage.
http://www.sankaranethralaya.org/research-stem-cell-department.html
these people are doing research involving retinal stem cell transplant for degenerative retinal deseases.may be your patient can enroll in the project...Marriage is prospect the girl has to go into with with the prospective partner well aware of her ill ness and her fertility options.
The patient requires cyclic estrogenand progesterone therapy to maintain uterine size , prevention of bone loss till the natural age of menopause. However for fertility once uterine size is achieves , she will require IVF with ovum donation .
Dear Dhia Hussain Jassim Al-Delemy
Is the donated embryo acceptable in your culture ?
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