The primary issue in Congenital Adrenal Hyperplasia (CAH) is the inability of the adrenal glands to create enough cortisol in all clinical forms of Congenital Adrenal Hyperplasia and in addition, inability to make enough aldosterone in the salt-wasting form.
About 1 in 10,000 to 18,000 children are born with congenital adrenal hyperplasia (CAH). The most common cause of CAH, accounting for ~95% of all cases, is 21-hydroxylase deficiency (21HD). In the body 21-hydroxylase is created by a gene called CYP21A2. When this gene stops working properly not enough 21-hydroxylase is created. In south Asia, there are 6 main mutations in the CYP21A2 gene that cause CAH. These mutations may either make the gene work less efficiently or stop the gene from being made by the body at all. These latter mutations are more likely to lead to the more severe, salt wasting, form of the disease.
Salt wasting Congenital Adrenal Hyperplasia:
Salt wasters have the most severe enzyme deficiency, and produce very little or no Cortisol and Aldosterone. A child born with salt wasting CAH will surely be diagnosed within a few weeks of birth, as he or she will either be diagnosed during a mandatory test wherever it is done, or will go through an Adrenal Crisis, which can be fatal unless it is diagnosed immediately and treated.
In babies, all these are symptoms of salt wasting CAH:
- Ambiguous genitals in girls
- Adrenal crisis is girls and boys
- Lack of feeding
- No urination
- Weight loss
- Restless sleep
- Low body temperature
- Being unresponsive
- Prolonged jaundice
Simple virilizing Congenital Adrenal Hyperplasia:
In simple virilizing CAH, the body is unable to make Cortisol, but its ability to make Aldosterone is almost normal.. it is diagnosed only when symptoms of increased Androgen shows up, not by early Adrenal crisis.in this case, girls born may have ambiguous genitals, just like in salt wasting, which may result in diagnosis at birth. But due to this, boys born this way, may miss being diagnosed at birth, and go undetected until there are signs of early puberty. But, although Aldosterone production is normal, they can have elevated levels of Renin. Renin is produced by the kidneys. Its elevated levels can indicate blood volume being too low. So, those born with this form of CAH, may still need Mineralocorticoids, similar to salt wasters.
All these are symptoms of simple virilizing CAH:
- Masculine genitals in girls
- Enlarged genitals in boys
- Early puberty
- Early pubic hair
- Acne or premature growth
Late onset Congenital Adrenal Hyperplasia:
In this form of CAH, both Cortisol and Aldosterone production is almost normal, and only Androgen levels are elevated. This can cause problems of hormone imbalance and infertility. Girls can have masculine genitals. Boys and girls can have early puberty. Women can have hirsuitism, acne, balding, muscular build and a low voice. They can also have improper menstrual cycles or cessation of menstruation and infertility. Men can have problems of infertility.
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@example.com and let us know why you are interested in joining this group.