Genetic Disorders Expert Forum
2 year old female
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Questions in the Genetics Forum are being answered by medical professionals and experts. This forum is for questions and support regarding a person’s predisposition to a variety of medical conditions such as Ashkenazi Jewish Diseases, Bleeding Disorders, Blood Clotting Disorders, Cancer Genetics and Hereditary Cancer Syndromes, Chromosome Abnormalities, Congenital Birth Defects, Cystic Fibrosis, Family History, Fragile X Syndrome, Infertility, Newborn Screening, Rare Genetic Disorders, Prenatal Screening and Testing.

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2 year old female

Good afternoon.
My daughter is a two year old female. She has a variety of issues to include: small Ventricular Septal Defect, chronic Urticaria, dermatographism, chronic ear infections (now has tubes), asthma and allergies. She has had a small dermoid cyst removed from her sclap. She initially had many vague symptoms including inability to tolerate cold, lethargy, low blood sugar, failure to gain weight, would often loose weight. She was refered to a pediatric endocrinologist and they ran several tests. Her AM Cortisol was low (1), her insulin was low (1), her glucose was low (60). She subsequently underwent an ACTH stimulation test and was tentatively diagnosed with Adrenal Insufficiency. She has since been hospitalized twice for hypoglycemia (blood sugars in the 40's). The endo folks have backed off the diagnosis and have thought it may be ketotic hypoglycemia. However, they have also thought that she may have a syndrome or MODY (we have a history of diabetes being prevelent in our family). She has also been refered to orthopedics due to a trandelenburg gate. We have a referal to the genetics department at our childrens hospital but they will not be able to get us in for at least 6 more months.

The only things in her blood tests are her BUN and Creatinine have bee a bit low and occasionaly their ratio has been high. Her anion gap has been high and her neuto and lymph have been off.

I am looking for any possible diagnosis or items to pursue. So far no one has had any ideas on why her blood sugar could keep going low and why her cortisol and insulin are low. Are their any diagnosis that could be identified by genetic testing? I would appreciate any information.
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Given the variety of issues your daughter has had, we recommend that she meet with a medical geneticist, a doctor who specializes in genetic disorders. A medical geneticist can perform a physical exam as well as review her personal and family medical history to look for signs and symptoms of a genetic disorder. A medical geneticist can also discuss the benefits and limitations of genetic testing for any appropriate genetic conditions. You can find a medical geneticist at the American College of Medical Genetics website. We wish you and your daughter the best.
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