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I Have Growth Hormone Deficiency And Chiari. Are These Conditions Hereditary?
Question: Hi, My name is XXXXXXX I am 33 years old. I have 3 children. As a child I had a growth hormone deficiency. 2 of my children also have a growth hormone deficiency. I also have Chiari 0 (which i understand isnt recognizable by most dr's), nonetheless, I have multiple symptoms. My son has Chiari I. For some reason, the geneticist at the Childrens hospital contacted us and wanted me and 2 of my children to come XXXXXXX with them. I dont know why but i assume my reasons above. My questions to you are for the purpose of maximizing this visit with this geneticist. 1. Are the conditions above hereditary? 2. What is the prevalence of my son and I, who have Chiari and growth hormone deficiency, to have Ehlers Danlos? 3. Can we be tested for that? Also, do you see any additional disease possiblilty based on my medical history? Also I forgot to add to my medical history osteopenia. Thank you.
Dear XXXXXXX
Sorry for writing late. I am glad that your geneticist is concerned about your issues and
Surely wants to know more about the situation to help you more.
One thing is sure that all these issues are genetic but need not be heredited all the time… if seen in kids of both the sex or only one does help someway in understanding situation in your case better.
Per se due to many causes from chemical levels of various precursor hormones to its action on tissues… it does run in families in select cases.
Chiari is a condition in which the base of brain is not formed well… so bony deficit may cause somr brain compression… since it is chiari zero…. I would says its only technical diagnosis not deserving any therapy.…
About Ehler Danlos…its a disease of connective tissue laxity…may explain chiari zero on its own…
Since all these issues are uncommon… their coexistence is rare and so prevalence is just a matter of research.
The reason why geneticist has called you to understand how these issues can be put together to explain as a single or mixed chromosome sequalae and also to help you understand recurrence of similar issues in other members of family in future.
I hope. This addresses your anxiety… please let me know if any other issues worry you in this context. Hope you may be tested for advanced chromosomal studies and complications. associated with the same by other specialists too.
Sorry for writing late. I am glad that your geneticist is concerned about your issues and
Surely wants to know more about the situation to help you more.
One thing is sure that all these issues are genetic but need not be heredited all the time… if seen in kids of both the sex or only one does help someway in understanding situation in your case better.
Per se due to many causes from chemical levels of various precursor hormones to its action on tissues… it does run in families in select cases.
Chiari is a condition in which the base of brain is not formed well… so bony deficit may cause somr brain compression… since it is chiari zero…. I would says its only technical diagnosis not deserving any therapy.…
About Ehler Danlos…its a disease of connective tissue laxity…may explain chiari zero on its own…
Since all these issues are uncommon… their coexistence is rare and so prevalence is just a matter of research.
The reason why geneticist has called you to understand how these issues can be put together to explain as a single or mixed chromosome sequalae and also to help you understand recurrence of similar issues in other members of family in future.
I hope. This addresses your anxiety… please let me know if any other issues worry you in this context. Hope you may be tested for advanced chromosomal studies and complications. associated with the same by other specialists too.
Note: For further queries related to your child health, Talk to a Pediatrician. Click here to Book a Consultation.
Above answer was peer-reviewed by :
Dr. Chakravarthy Mazumdar
Answered by
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