Excess Androgens produced in Congenital Adrenal Hyperplasia can cause varying degrees of masculinization of the genitalia in girls. They could be born with the clitoris, labia and vagina fused together in various degrees. CAH does not however, affect the formation of the ovaries, fallopian tubes, cervix or uterus.
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.
Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is an autosomal recessive genetic disorder, which means that it affects males and females in equal numbers, and that it requires both parents to pass on a gene in order for it to manifest as a disease. For a child to be born with any form of CAH, both parents must carry a gene for the disorder.
Growth Hormone Deficiency
Growth hormone (GH) is a protein made by the pituitary gland and released into the blood in brief pulses. The major way that GH promotes growth is by increasing levels of the hormone, insulin-like growth factor-1 (IGF-1), and its carrier protein, IGF binding protein-3 (IGFBP-3), in the blood.
Optic Nerve Hypoplasia
A child with the Syndrome of Optic Nerve Hypoplasia, also known as Septo Optic Dysplasia or DeMorsiers Syndrome, has under-developed optic nerves. The optic nerves carry messages from the eye to the brain. ONH is the single leading cause of blindness in infants and toddlers.
Russell Silver Syndrome
Russell-Silver syndrome (or Silver-Russell syndrome) is a rare genetic disorder characterized by delayed growth in-utero (IUGR) that spares head growth (meaning the newborn has a head size that is large for his body) and ongoing postnatal growth failure.
Small for Gestational Age
SGA (small for gestational age) generally describes any infant whose birth weight and/or birth length was less than the 3rd percentile, adjusted for prematurity (gestational age). Between 3% and 10% of live births each year are diagnosed as SGA.
Turner’s Syndrome occurs in 1 in 2,500 live female births. Approximately 98% of pregnancies with Turner’s Syndrome abort spontaneously and approximately 10% of fetuses from pregnancies that have spontaneously aborted have Turner’s Syndrome.
Connect with us!
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.
➤ Step 1: Search for the group page on Facebook.
➤ Step 2: Please request to join.
➤ Step 3: Send a message to the Admin or an email to
[email protected] and let us know why you are interested in joining this group.