Pediatric Endocrinology Expert Forum
Born with no uterus or ovaries
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Questions in the Pediatric Endocrinology forum are answered by Dr. Deanna L Aftab Guy. Topics covered include adrenal problems, diabetes insipidus, menstrual irregularities, obesity, parathyroid abnormalities, pituitary abnormalities, puberty concerns, rapid growth, rickets and bone disease, short stature, and thyroid.

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Born with no uterus or ovaries

My niece who is 17 hasn't had a cycle or developed  so she was taken to the gyn for a check up and ultrasound and MRI showed no uterus or ovaries. gentic test were done but I don't know to what extent. Results from this were "Normal" . She also had a MRI of the brain and this isn't being discussed. She was referred to endo in Atlanta Ga for further work up,  What could be some of the possible causes or diagnosis?
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It is very very likely that she has a genetic reason for her internal genitalia not developing appropriately. So the first thing that they are likely to do will be a karyotype to look at the genes that make up our bodies development into males and females. Women are 46 pairs of chromosomes with an XX that makes them develop their gonads into ovaries, males have 46 pairs of chromosome and an XY. The tip of the Y chromosome has genetic material that changes the structures to develop into testes and other male internal genitalia. She may be missing some genetic material that was needed to allow her organs to develop, or there may be a receptor problem that is not allowing hormone to act in order to differentiate the tissue. Either way the endocrinologist is key in this problem right now. Being that she is your niece it sounds like the parents are keeping things quiet and to themselves and rightly so. This is a very very touchy subject and for a child this is an area hard to discuss and explain. Let them see their doc and work closely with them. She sounds like she is in good hands. Just be supportive to your nieces family
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