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Doctor insights on: What Is Ovarian Agenesis

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I'm a 40-year old woman who was diagnosed 5years ago of having vaginal agenesis. How common is this disorder? I feel completely alone

I'm a 40-year old woman who was diagnosed 5years ago of having vaginal agenesis. How common is this disorder? I feel completely alone

Uncommon: You have a "mullerian" anomaly, one of the intersex conditions. Make sure your doctor has checked if you have a uterus, cervix and kidneys. You need a reproductive endocrinologist who can a also show you how to dilate/create a vagina. You do have ovaries since these come from a different original tissue. Find a support group, either online or from your doctor. You are not alone. ...Read more

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What does a left renal agenesis mean?

What does a left renal agenesis mean?

Absent left kidney: Means that the left kidney failed to develop, so there is only a right kidney present. Most people can lead a perfectly normal life with one kidney. They should avoid excess protein in their diet and minimize salt intake (good advice for everyone). ...Read more

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How is a renal agenesis diagnosed usually?

How is a renal agenesis diagnosed usually?

By accident: Screening ultrasound during pregnancy to verify dates may pick up absence of single or both kidneys before any signs. Abdominal and kidney ultrasound to evaluate a persons pain or urinary tract infection may find it by accident. Relatives of those with kidney defects have a higher risk of any kind of kidney defect (10X) so ultrasound screening is worthwhile ...Read more

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In what way is a renal agenesis diagnosed?

In what way is a renal agenesis diagnosed?

Often by accident: The availability of ultrasound has increased the likelihood that an abdominal study done for an unrelated issue will pick up renal agenesis or other malformation. I suggest the study for first degree relatives of a person with such renal defects as their risk increases to 1/50 from the 1/500 of the general population. It might also be found when evaluating a kidney issue, like recurrent uti's. ...Read more

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What is the prognosis if agenesis of corpus collosum?

What is the prognosis if agenesis of corpus collosum?

Prognosis: Counseling for agenesis of the corpus collosum is difficult. Imaging cannot predict how the fetus will develop and function. About 10% of the adult population has agenesis of the corpus collosum and function normally. The prognosis for partial agenesis of the corpus collosum is worse and is associated with function impairment. ...Read more

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What causes agenesis of the corpus callosum?

What causes agenesis of the corpus callosum?

It is a: Developmental congenital abnormality, occurring in isolation or in association with various cerebral abnormalities/syndromes. Agenesis of the corpus callosum is caused by disruption to development of the fetal brain between the 3rd and 12th weeks of pregnancy. In most cases, it is not possible to know what caused an individual to have ACC. ...Read more

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Do a lot of people have agenesis of the corpus callosum?

Do a lot of people have agenesis of the corpus callosum?

Rare: It is very rare for individuals to be born with either agenesis or partial agenesis of the corpus callosum. It can also be associated with other genetic syndromes. ...Read more

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What can you tell me about agenesis of the corpus callosum?

What can you tell me about agenesis of the corpus callosum?

Rare, variable six.: I would refer you to the ACC page on: www. Rarediseases. Org, the website of NORD, the National Organization for Rare Disorders. A very helpful & informative site. BTW, I have a great niece with ACC, aged 6yrs, and she has NO developmental delays so far! Good luck and my best wishes! ...Read more

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What would a child be like with agenesis of the corpus callosum?

What would a child be like with agenesis of the corpus callosum?

Mid-line defect: Agenesis of the corpus callosum may be associated with other brain abnormalities. How a child would be with agenesis of the corpus callosum depends on the extent of other associated findings. Optic nerve hypoplasia, pituitary abnormalities, developmental delays, and other neurological problems are associated with this. Please see http://www. Ninds. Nih. Gov/disorders/agenesis/agenesis. Htm. ...Read more

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Are there symptoms or health problems when you have agenesis of the sphenoid sinus?

Are there symptoms or health problems when you have agenesis of the sphenoid sinus?

It is so rare: I think it would be difficult to say. My guess is that you were having a CT scan or MRI for some facial or sinus symptoms and this was incidentally reported. It would have been present your whole life...it is the result of lack of development in the embryo/fetus. Reportedly it occurs in only 0.026% of people. Too few to study. The presence of this shouldn't impact your evaluation or treatment. ...Read more

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Are there any clinical trials/studies/the like happening right now for birenal agenesis?

Are there any clinical trials/studies/the like happening right now for birenal agenesis?

Yes, one!: There is one trial recruiting patients and one trial that has been completed. Go to www. Clinicaltrials. Gov and type in "renal agenesis" under the search field. This link has the study that is recruiting patients: http://www. Clinicaltrials. Gov/ct2/show/NCT01509287? term=renal+agenesis&rank=2

Good luck! ...Read more

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Tell me about vaginal agenesis (absence of a vagina)?

Tell me about vaginal agenesis (absence of a vagina)?

Formation problem: When the XX chromosome denotes that the individual will be a female, genital differentiation will occur in the absence of a "Y" chromosome. When that occurs the uterus and forms and a vagina is initiated. Vaginal agenesis is a congenital failure to form during differentiation and can be corrected surgically by a GYN surgeon. ...Read more

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What are the tests for partial agenesis of corpus callosum?

What are the tests for partial agenesis of corpus callosum?

Partial agenesis: A fetal MRI can confirm what we see on ultrasound and may be helpful in prediction. Chromosomal analysis, usually by amniocentesis, is also important. Unfortunately, imaging studies do not predict function of the fetus after delivery. Partial agenesis may be worse than complete absence of the corpus callosum. ...Read more

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Would someone with unilateral renal agenesis have a good quality of life?

Would someone with unilateral renal agenesis have a good quality of life?

Possibly: Many without a kidney go though a normal life and never know it. Renal anomalies occur in ~1/500 persons, and up to 1/50 of those related to one with a defect. As long as the person has no events that damage or infect this organ, they can live well with only one. If discover this by chance, I encourage the person to stop riding horses ; make other lifestyle choices to protect the organ. ...Read more

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Please help! What is the life expectancy for people with unilateral renal agenesis?

Please help! What is the life expectancy for people with unilateral renal agenesis?

Depends on variables: As long as there are no additional issues this will have no significant impact on lifespan. This is why we can give a kidney to a sibling/spouse/stranger and not suffer long term effects. ...Read more

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What are the short and long term risks in a newborn with unilateral renal agenesis?

What are the short and long term risks in a newborn with unilateral renal agenesis?

No problem: Many people go through life with this defect and never know they had it. We only need one as long as it stays healthy. I counsel people to avoid sports or activities that would put the remaining kidney at risk. In the us that includes contact sports, horse riding etc. ...Read more

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What are the complications of a pregnancy in a woman with unilateral renal agenesis?

What are the complications of a pregnancy in a woman with unilateral renal agenesis?

None: One kidney is sufficient for normal survival and reproduction. So no complications expected. ...Read more

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Renal agenesis and 22 weeks pregnant, what to do?

Renal agenesis and 22 weeks pregnant, what to do?

Learn/decide: If baby has the problem on only one side, a healthy outcome is possible. If on both sides, the baby will die shortly after delivery. Confer with your treating physicians and any specialty support you can find. The right decision for you will be apparent at some point. ...Read more

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I need help finding a doctor who performs mullerian agenesis surgery in New York or Connecticut?

I need help finding a doctor who performs mullerian agenesis surgery in New York or Connecticut?

Intertesting.: Your best bet is to call the NYC Medical Society. They should be able to suggest one or two surgeons who specialize in this procedure. ...Read more