Intersex Diagnosis sought after

[Snowflakes]

Hello,

My daughter is a phenotypically female with xy chromosomes, she also was born with a laryngeal cleft. I have geneticists in the UK searching for a link between the two as they feel it is very unlikely that Chloe would have these two issues and that they are not linked. Well she's found no one reported to have these two conditions together. I have also searched the internet with no joy. If anyone out there has come across a similar situation please respond to this post as I'm desperate to get a proper diagnosis for my daughter.

Thank you.

[Peter]

Hi Snowflakes,

Bodies Like Ours concentrates on providing intersex information and peer support. We cannot provide a medical diagnosis of your daughter's intersex condition. I think that it is significant that you mentioned elsewhere that your daughter has an ovo-testes condition and XY karyotype. I would suggest typing the word "ovo-testes" into your Internet browser search window and reading what comes up. Also, the Androgen Insensitivity Syndrome Support Group (AISSG), which has offices in various countries, including the UK, has good material under the heading of "Obtaining/Facing Diagnosis". Although some AIS issues might be different than the issues your daughter faces, their description of various medical tests used by the medical profession for diagnosing intersex conditions might be valuable to you.

Peter

[Snowflakes]

Hi Peter,

Thanks for your post. I don't think I really expect anyone to be able to give me a proper diagnosis from this website, but I was just wanting to make an enquiry if there is anyone with the same two things. Thanks for your suggestions though, I will look into these although I know she has tested negative for Androgen syndrome.

I continue with my search on the internet. ;-)

[Peter]

Hi Snowflakes,

Sorry if I seemed harsh. I have searched the web and found a connection between being intersex and having a cleft palate. I am not saying that this information applies to your daughter, but you might find it interesting. Here is a short summary from the Human Molecular Genetics site hosted by Oxford University Press:

"Campomelic dysplasia/autosomal sex reversal (CD/SRA1, MIM no. 114290) is a severe skeletal malformation syndrome associated with XY male-to-female sex reversal caused by mutations in the SOX9 gene. CD/SRA1 is an autosomal-dominant disorder characterized by congenital bowing of the long bones, other skeletal malformations (narrow iliac wings, hypoplastic scapulae, micrognathia) and clinical features including cleft palate, flat face with high forehead, low set ears and depressed nasal bridge, congenital heart defect, tracheobronchomalacia, narrow thoracic cage with hypoplastic lungs, hypotonia and psychomotor disorders (1). Campomelic dysplasia is generally lethal, but a minority of patients survive. A variant of CD, acampomelic CD, has all the clinical and skeletal characteristics of the disorder except the bowing of the long bones, the feature that gives it its name (2,3). Mutations in SOX9 have also been identified in the acampomelic form of CD (4,5)."

Peter