Congenital Adrenal Hyperplasia (CAH):
CAH is a genetic condition that effects the way some hormones are released from the adrenal glands: sex steroid hormones (e.g. testosterone), glucocorticoids (mainly cortisol) and mineralocorticoids (mainly aldosterone) are effected resulting in higher than normal levels of some and not enough of others. Untreated CAH can lead to low blood glucose levels, low salt levels and low blood pressure. Left untreated, it can be life threatening.
Signs and symptoms of CAH can be variable but more commonly it may be suspected in a newborn with ambiguous genitalia and experiencing low blood glucose and salt (sodium) levels. Sometimes CAH may be picked up later in children or adolescence due to early puberty, rapid growth with an advanced bone age or menstrual irregularities.
Treatment is life-long and involves taking replacement steroids everyday. Some children may also need to take medication to help balance their salt levels. Families are counselled on what to do with the steroid medication on days when a child is unwell to ensure that they have enough medication to cope with the extra demands on the body.
For more detailed information please visit The CAH Support Group website at: livingwithcah.com
Malan syndrome:
Malan syndrome is a rare genetic disorder that is caused by changes in the NFIX gene. It affects physical appearance, growth, and development. Malan syndrome is usually not inherited and occurs spontaneously with no prior family history. It is classed as an overgrowth neurodevelopmental disorder.
Signs & symptoms of Malan syndrome may vary, but could include:
- Tall stature and large head
- Facial characteristics: tall forehead, long or triangular face, deeply set down slanting eyes, low set ears, small mouth with dental overcrowding and thin upper lip
- Learning difficulties – ranging from mild to severe
- Low muscle tone (hypotonia)
- Visual impairment
- Hearing impairment
- Developmental delays
- Seizures or EEG abnormalities
- Skeletal anomalies
- Heart and brain anomalies
- Autism
- Behavioural challenges
Treatment
Treatment and management for individuals with Malan syndrome may vary depending on which symptoms/characteristics are present. Several different healthcare professionals may be involved including paediatric specialists, geneticists and therapists.
Organisations
Malan Syndrome Foundation have a range of information, including these common questions about Malan syndrome: malansyndrome.org/common-questions
National Organization for Rare Disorders (NORD) have information about Malan syndrome: rarediseases.org/rare-diseases/malan-syndrome
Septo-optic dysplasia (SOD):
SOD is the name for a condition caused by problems with the optic nerve, changes to the mid-line brain and/or changes to the structure of the pituitary gland.
Children will need to have problems with at least 2 out of the above 3 changes to be given a diagnosis of SOD. MRI scanning can confirm the diagnosis. There will usually be problems with growth, but other hormones can be affected, and there can be visual impairment. Testing will need to be carried out to assess which of the pituitary hormones need replacing with medication.
Due to the various needs of a child with SOD it’s likely that a number of specialists will be involved and a child will have regular monitoring and reviews at the hospital.
For more information please see the below links:
gosh.nhs.uk/conditions-and-treatments/conditions-we-treat/septo-optic-dysplasia
pituitary.org.uk/information/septo-optic-dysplasia
Thyroid conditions:
The thyroid is a gland that sits at the front of your neck shaped like a butterfly. It releases hormones that are really important for many things in childhood including growth, development, energy levels, metabolism and concentration.
Hypothyroidism
Hypothyroidism is a term which means that the thyroid is underactive (not releasing enough thyroid hormones). This could be a congenital condition (that is, a child is born with the condition) or could be acquired (developed later for example due to an auto-immune response). It could be a problem with the thyroid gland itself or a problem with the signal from the pituitary gland which tells the thyroid to release the thyroid hormones.
Signs and symptoms:
Congenital hypothyroidism can be picked up by the 5-day blood spot screen that all babies are offered. Treatment starts soon after the results are confirmed to ensure there is no impact on the babies’ growth and development.
Acquired hypothyroidism can be queried for a number of reasons. Usually:
- Slow growth
- Gaining weight easily
- Constipation
- Tiredness
- Being sensitive to the cold
- A blood test will confirm the diagnosis
Treatment is with a daily dose of Levothyroxine. Most children will take this in tablet form and the dose is adjusted according to blood levels of thyroid hormones.
Hyperthyroidism
Hyperthyroidism is a term which means that the thyroid is over-active (releasing too many of the thyroid hormones). Sometimes this can be present at birth if the mother has an over-active thyroid but mostly is a condition which develops later due to an auto-immune response. You may hear a number of names for this condition including ‘thyrotoxicosis’ or ‘Graves disease’.
Signs and symptoms can include:
- Weight loss
- Nervousness/ feelings of anxiety
- Fast heart rate (palpitations)
- Shakiness/tremor
- Diarrhoea
- Unable to concentrate
- Headaches
- Bulging eyes
Treatment is usually with a daily dose of anti-thyroid medication. Sometimes a short course of a beta-blocker is also prescribed to help alleviate symptoms of palpitations and high blood pressure. Anti-thyroid medication is sometimes stopped after a few years of treatment to see if it is needed long term or more permanent treatment is required.
For more information regarding thyroid conditions please visit The British Thyroid Foundation:
btf-thyroid.org/children
btf-thyroid.org/teenagers
Turner syndrome:
Turner syndrome (TS) is a genetic condition that affects only girls/women. It is caused by a change in the chromosomes resulting in 1 of the X chromosomes to be missing completely or partially. The diagnosis is confirmed by a blood test.
Sometimes the condition can be found during pregnancy but can be diagnosed after birth due to signs such as neck webbing, cardiac and/ or kidney abnormalities or swelling due to excess fluid around the feet or hands. TS can sometimes be diagnosed later into childhood or adolescence when a girl has short stature or puberty is delayed.
Girls with TS will be monitored and can receive treatment depending on individual need. For example girls with TS are able to have growth hormone under NICE guidance, they may need medication to help with high blood pressure, cardiac issues or to induce puberty. They should also be monitored more closely for auto-immune conditions such as thyroid disorder or coeliac disease.
To find out more please visit Turner Syndrome Support Society UK (TSSS) at: tss.org.uk and TSSS have kindly shared the below resources – click on the images below to read and download.
