Doctor insights on:
What Is Ovarian Agenesis
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
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
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
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
Not treatable: This would not be a treatable condition. ...Read more
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
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
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
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
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
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
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
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
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
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
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
None: One kidney is sufficient for normal survival and reproduction. So no complications expected. ...Read more
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
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
I was wondering what are the complications of pregnancy in a woman with unilateral renal agenesis?
Renal function: One normal kidney is sufficient for normal kidney function. So if its is unilateral, please check your kidney function. If it is normal, you may not be at risk for bad outcomes with pregnancy. If you do have abnormalities in kidney function, you need to monitored closely- worsening of kidney function. For fetus- low birth weight, preterm, sometime miscarriages. ...Read more
My 6 mo has unilateral renal agenesis and grade 4 reflux causing Hydrouereteronephrosis. Is antibiotic prophylaxis necessary in his case?
Morning glory disk anomaly with ipsilateral capillary hemangioma, agenesis of the internal carotid artery, and horner syndrome: a variant of phaces syndrome?
Will Eye Hospital: Recommend you travel to see the retinal service at the wills eye hospital in philadelphia, pa. Would recommend dr. Gerry shields and dr. Carol shields. ...Read more
3 m/o w/unilateral renal agenesis, bilat syndactyly of toes 3-4, seizures, failure to thrive, no muscle tone, low ears, heterotopia. Not SLOS. Ideas?
What did the: Chromosomal Microarray reveal? This is a baby who needs a team or "medical home : pediatrician, pediatric neurologist, geneticist, developmental/behavioral pediatrician, audiologist, pediatric ophthalmologist Early Intervention therapists & a medical social worker/case manager & more to assure funding, services, & family support for accurate diagnosis & management. ...Read more
Could taking antibiotics like doxycycline, bactrim and Macrobid have caused my baby to have a complete agenesis of the corpus callosum? The drugs were prescribed by the doctor for e-coli and ut infections and taken during the first trimester of pregnancy
No apparent link: The meds above have not been linked to acc. Any triggering process is in play at or before the 4th month, when the cc normally forms. Acc has been found as a sporadic event, or showing autosomal dominant, recessive or x linked forms of inheritance. It can occur in normal people or as part af a significant syndrome or chromosome defect. Genetic eval & counseling are indicated for all cases. ...Read more
The same cancer: Recurrence means that it's the same cancer that has come back. While it may come back in a different place in the abdomen-- the cell type is the same regardless even if the ovaries are no longer there. A biopsy will show if the recurrence is consistent with the original cancer. ...Read more
U/S says 5.6cm ovarian cyst resolved, but it still hurts all the time. What could be going on? I'm still having all the same symptoms.
Unclear significance: Ovarian volume is not often used by most obgyns and it's significance is debatable. It is thought the a higher ovarian volume reflects a higher number of remaining eggs or oocyctes. ...Read more