Girls born with CAH can appear like a boy due to the formation of the genitalia, but they are very much girls who have two normal X chromosomes and internal female reproductive organs. Due to the fusing of the clitoris, labia and vagina, they can appear masculine, and will require surgical restoration in order to avoid prevent any problems with urination, menstruation or sexual intercourse.
There are controversies regarding this, and whether such surgical intervention is something a parent should decide. Here, we will not go into that. This is more to look at what are the necessary steps with regards to this and when it should be done.
Over the years, the understanding of girls with CAH, and correction of their genitalia has been understood much better, and such surgeries are now safely performed when the child is still an infant, with no complications.
This kind of surgery is not done only for a cosmetic purpose. Fused clitoris, labia and vagina can create a host of potential difficulties with the urinary system and the genitals. The vagina and the urethra are two separate and distinct structures. Fusion of the labia majora and no labia minora can create a urogenital sinus which is a tract that forms when the vagina joins with the urethra. When masculinization is mild, they join together close to the perineum, but far from the bladder. When it is too severe, they join together close to the bladder. Usually a Paediatric Urologist will be the one to study this abnormality and correct it accordingly.
The Paediatric Urologist will examine the baby and evaluate after discussions with the Paediatric Endocrinologist. In cases where there are signs of Glucocorticoid over treatment, surgery is delayed as recovery will be slow or there might be chances of infection.
Every girl will be different based on the degree to which masculinization has occurred, and accordingly, the surgery is planned. The doctor may ask for an x-ray of the abdomen and pelvis to examine the kidneys, bladder, uterus, ovaries and adrenals. They may also ask for an x-ray of the vagina, urethra, bladder and the urogenital sinus. After examination, the exact procedure will be advised. Make sure that you check about the risks and the benefits of such a procedure, and also the repercussion of not conducting such a procedure.
Some doctors feel that such a procedure is best performed at infancy, while others feel it is better to do it after puberty. The individual case and the levels of masculinization help to decide this.
As with any surgery done on someone with CAH proper stress dosing is required. Care is taken to avoid excessive blood loss and to prevent any infections.
If such surgeries are done at infancy by an experienced Surgeon, girls with CAH do grow up normally, with no issues regarding urination, menstruation, puberty or sexual development.
1-hydroxylase deficiency Congenital Adrenal Hyperplasia is usually diagnosed by elevated levels of 17-Hydroxyprogesterone, with or without low Cortisol levels in a patient’s blood sample.
The primary issue in Congenital Adrenal Hyperplasia is the inability of the adrenal glands to create enough cortisol in all clinical forms of CAH and in addition, inability to make enough aldosterone in the salt-wasting form.
This treatment is given for anyone with CAH, irrespective of whether they are salt wasting or not. It has to be sufficient to replace the deficient or missing Cortisol, and at the same time, it has to prevent the Adrenal glands from over producing Androgens.
In the case of someone with salt wasting CAH, in addition to the Glucocorticoids, they also require a Mineralocorticoid or Flurocortisone, to replace the deficient Aldosterone which is required to regulate salt and fluid levels and to maintain normal blood circulation.
We understand how challenging it can be for parents of CAH children, who need to manage so many things.
In the first of a series of handouts for parents, we have created an Emergency Awareness Handout Pack that includes a handout for Schools and a bonus handout for parents.
by C. Y. Hsu and Scott A. Rivkees MD
CAH is an inherited disorder of the adrenal glands. Its effects can be wide-ranging and serious-from problems of ambiguous genitalia in baby girls; to problems with growth and physical development; to problems with infertility and hormone imbalance.
by Peter C Hindmarsh and Kathy Geertsma
Congenital Adrenal Hyperplasia: A Comprehensive Guide addresses how hydrocortisone works, what can go wrong, and how to correct it, also explaining why the timing of doses and measurement of cortisol from a dose is extremely important.
We have created a Facebook page called Omkar's Journey with Congenital Adrenal Hyperplasia to chronicle all possible events and scenarios in the life of a child with CAH, with a view to let new parents know what to expect.
Mobirise themes are based on Bootstrap 3 and Bootstrap 4
Publish your website to a local drive, FTP or host on Amazon S3, Github.
The Congenital Adrenal Hyperplasia Support India group on Facebook is a closed group and is for discussion and sharing of information relevant to Congenital Adrenal Hyperplasia only. This is a safe place for parents whose children have CAH to exchange and seek information that might help them deal with the problem. Note that posts which are not relevant to CAH and which are advertisements for sales of products, services or groups will be deleted and the person posting the message will be removed from the group without notice. If you wish to join this group: