Someone with Congenital Adrenal Hyperplasia, is unable to produce Cortisol and instead ends up producing excessive unwanted Androgens. Those with salt wasting Congenital Adrenal Hyperplasia do not produce Aldosterone either. In a normal human body, Cortisol requirement increases by 5 to 10 times the normal requirement in times of physical stress.
Treatment of Congenital Adrenal Hyperplasia involves primarily providing the body a replacement for the missing Cortisol and Aldosterone, and at the same time preventing excess Androgens.
To provide a Cortisol replacement and to suppress Androgen production, a synthetic Glucocorticoid is used. A Mineralocorticoid is used to replace the deficient Aldosterone.
Glucocorticoid treatment is given for anyone with Congenital Adrenal Hyperplasia, 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.
The dosage is very crucial as over dose could have many side effects. Finding the right dose where the condition is treated correctly but at the same with no side effects, is managed by an experienced Paediatric Endocrinologist. This delicate balance between not enough and too much is managed by the right doctor. If your child has CAH, finding the right doctor is crucial to lifelong management.
In the case of someone with salt wasting Congenital Adrenal Hyperplasia, in addition to the Glucocorticoids, they also require a Mineralocorticoid or Flurocortisone, to replace the deficient Aldosterone. Aldosterone is required to regulate salt and fluid levels and to maintain normal blood circulation.
Different Electrolytes like Sodium, Potassium, Chloride, Bicarbonate and Calcium which may be positively charged or negatively charged, need to stay in a state of balance. Aldosterone instructs the cells to retain Sodium and let go of Potassium. If Aldosterone is deficient or missing, as is the case of Congenital Adrenal Hyperplasia, the body will do the reverse. It will instead lose Sodium and hold Potassium.
Children fail to grow for a variety of reasons. Hormones, genetics, sleep, nutrition, general health and exercise are all factors for normal growth. If you suspect that your child is not growing normally, you are in the right place!
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 (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.
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 (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.
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.
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.
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The MAGIC Foundation India group on Facebook is a closed group and is for discussion and sharing of information to provide support services for the families of children afflicted with a wide variety of chronic and/or critical disorders, syndromes and diseases that affect a child's growth. This is a safe place for parents to exchange and seek information that might help them deal with the problem. Note that posts which are not relevant to disorders, syndromes and diseases that affect a child's growth 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: