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 raw material hormone 17-Hydroxyprogesterone is not able to metabolize to Cortisol, due to a lack of or diminished supply of 21-hydroxylase.
This leads to low Cortisol level. Low Cortisol levels causes the Pituitary to stimulate more ACTH meant to stimulate the Adrenal glands to produce Cortisol. CAH individuals are unable to do so. The extra ACTH stimulation causes an increased level of 17-Hydroxyprogesterone. This excess 17-OHP is instead metabolized by their body to produce unwanted excess Androgens. Androgen hormones like Androstenedione, Testosterone and DHEA levels are elevated for the given age and sex of CAH people.
The Gene for the 21-hydroxylase enzyme can also be used for evaluation by DNA Analysis, which determines if the gene is present or absent or if it is mutated.
Sometimes when a new born baby is suspected of having CAH, electrolyte levels of sodium, potassium, chloride and renin will be checked. Ultrasounds are also conducted to check the Adrenal glands.
CAH: New Born Screening
New born screening for Congenital Adrenal Hyperplasia is performed by measuring the levels of 17-Hydroxyprogesterone, in a tiny blood spot obtained on a filter paper by heel prick at 2-3 days.
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: