Possible Congenital Adrenal Hyperplasia

[TTCLindsey30]

So at my 35 week scan they were checking the gender again, and found that my baby girl's labia were very big and swollen looking. Well now they're sending me to a high risk doctor because they fear she may possibly have Congenital Adrenal Hyperplasia or she may have ambiguous genitalia. I'm so freaking out right now, the entire pregnancy has been a breeze until this point and I'm just very scared. I'm looking for any stories y'all might have and if anybody has been through this. I just want my little girl to be okay.

 

[Jessicahide]

I have no experience of this but h ave just looked it up.... I am very sorry to hear you are going through this, it must be tough but no matter what baby can have an operation once their sex is properly determined xxxx

 

[Septie]

Oh no! No personal experience, but a relative of my husband's died of the salt wasting form as a newborn a long time ago - they did NOT know he had this, however, until it was too late. My OH is a carrier - I am fortunately not (I got checked during my first pregnancy, when we found out about OH's family history)! We did read up on it while we were waiting for results, and while it is stressful (the salt wasting form), due to constant observation and treatment, it is treatable...And if your girl has it, it is wonderful that they found out prior to birth!! We never worried about ambiguous genitalia, as we were going to have a boy, and any male hormone issues seemed minor relative to the salt wasting. Best of luck to you!!

 

[TTCLindsey30]

Thank you ladies! I had an NIPT done to double check baby's gender and should get the results back in a few days. It's all very scary but I'm thankful we have time to prepare ourselves and be as ready as we can be!

 

[Jessicahide]

Thank you ladies! I had an NIPT done to double check baby's gender and should get the results back in a few days. It's all very scary but I'm thankful we have time to prepare ourselves and be as ready as we can be!

It must be really difficult at the moment xxx Sending my love x keep us updated xxx

 

[TTCLindsey30]

Well, the test results came back and SURPRISE the baby is XY and not XX. We're actually having a boy! I'm so shocked and nervous seeing as how all we have is pink and girly and the due date is 2 weeks away! But very thankful to be having a healthy baby! Now we gotta find a name for him!

 

[hellojello25]

Well that's a relief!!! I'm so happy everything worked out for you!!!!

 

[Jessicahide]

That's amazing news xxx I love little boys the best so glad he is healthy xxx any preferences for names at all?

 

[TTCLindsey30]

We're leaning towards Abram Luke but we're still testing it out. I guess we should probably hurry it up! Lol.

 

[Jessicahide]

Haaa!!! Don't panic xxxxx