Lipoid congenital adrenal hyperplasia

Persons with lipoid congenital adrenal hyperplasia (LCAH) should have a team of healthcare providers, including specialists in:

Lipoid congenital adrenal hyperplasia is typically abbreviated as LCAH.

Most cases occur in Japan and Korea (where the incidence is 1 in 300,000 births) and Palestinian Arabs.

Lipoid congenital adrenal hyperplasia (LCAH) is an inherited endocrine disorder that the rarest form of congenital adrenal hyperplasia (CAH). It presents in infants shortly after birth (typically a few weeks) and can be fatal if unrecognized and untreated. This is caused by very low or unmeasurable levels of all steroid hormones due to mutations in the StAR gene. The diagnosis of LCAH is generally made using information regarding genetic sex (XY male or XX female), blood hormone levels, and visualization of the adrenal glands (the glands that produce hormones that sit on top of the kidneys).

The type of inheritance associated with LCAH is autosomal recessive, meaning that the parents of a child with LCAH each carry one copy of the StAR gene with a mutation and are unaffected. Both parents passed on their copy of the StAR gene with the mutation to their child with LCAH, who then has two StAR genes that each have a mutation (in other words, no working StAR genes).

The symptoms of LCAH (classic form) typically appear between 2 weeks of life to 3 months of life, prompting medical evaluation. Parents should watch for poor feeding, low blood pressure, and dehydration; infants will also start to have poor weight gain and vomiting. One of the classic signs of the disorder is salt-wasting (loss of sodium that is essential for the body through the urine). Individuals with the non-classic form may not present with symptoms until a few years after birth. Both XY males and XX females have external female genitalia.

The treatment for LCAH is similar to that for CAH. The salt-wasting (losing of salt through urine) should be managed with saline, and the mineralcorticoid deficiency (steroid/hormone deficiency) should be treated by giving fludrocortisone (controls the amount of sodium and fluids in the body). Glucocorticoids are steroid hormones that help the body process carbohydrates, proteins, and fats; these can be provided at minimal replacement doses. The XX females may require estrogen at puberty, and the XY males will need to have their undescended (and non-functional) testes removed due to cancer risk. With appropriate treatment, patients with LCAH can now survive into adulthood.

For more information and support, please visit the Congenital Adrenal Hyperplasia Education and Support Network, a support network for individuals and families affected by CAH, which can be found by visiting http://www.congenitaladrenalhyperplasia.org/.

The symptoms of lipoid congenital adrenal hyperplasia (LCAH) classic form typically appear between 2 weeks of life to 3 months of life, prompting medical evaluation. Parents should watch for poor feeding, low blood pressure, and dehydration; infants will also start to have poor weight gain and vomiting. The salt-wasting (losing large amounts of sodium through the urine) causes dehydration and can possibly lead to death.

Lipoid Congenital Adrenal Hyperplasia (LCAH) is caused by two of the same (homozygous) or two different (compound heterozygous) mutations in the gene encoding steroidogenic acute regulatory protein (StAR) on chromosome 8. Several different mutations have been identified that can cause the StAR gene not to work properly, and some mutations are more common in certain populations.

A medical geneticist can be help determine the appropriate diagnosis for a person and facilitate genetic testing. To locate one of these health professionals, please visit the ACMG website.

Genetic testing for lipoid congenital adrenal hyperplasia (LCAH) is available and there are three main possible results. When the genetic testing laboratory is testing a gene, they “read” each “letter” in the gene to see if there are any changes in the “letters” that the gene should have.

Negative Result
The laboratory may find no change in the genes, or a change in the gene that causes no problems (benign change); the gene still works and does it’s assigned job in the body. If a diagnosis of LCAH is certain but no gene mutation is identified, there may be a mutation in the StAR gene that technology cannot identify at this time. Alternatively, another gene cause may be responsible for symptoms in a person, or perhaps a different disease.

Positive Result
The laboratory may find a gene change that causes the disease, this is known as a mutation. A mutation causes the gene NOT to be able to do it’s job in the body, which leads to specific problems. In the case of the StAR gene, when it is not working properly specific hormones are not produced, leading to the symptoms of LCAH.

Variant of Unknown Significance Result
The laboratory may find a gene change that they have not seen many times before or maybe have not seen at all. This is called a variant of unknown significance, because the lab does not know how it affects the body. This means that at the time of testing, there is not enough data or research to determine what this change is doing to the gene; they are unsure if the gene is still able to do it’s job or not. Many families have gene changes that are unique to them. By studying the family history or looking at what the gene change would do to the protein made by the gene, sometimes the lab can figure out the significance of the variant. As more data is collected and research is done, this type of result can be reclassified to being either a negative or a positive.

A genetics professional can help interpret test results in the context of what that means for a specific person and for their family. To locate a genetic counselor near you, please visit the National Society of Genetic Counselors website at [link url="www.nsgc.org” target=”_blank”>www.nsgc.org and click the “Find a Genetic Counselor” link.

Hormones made by the adrenal glands are important for the body’s normal function. Cortisol affects energy levels, sugar levels, blood pressure, and the body’s response to illness or injury. Aldosterone helps maintain the proper salt level. Androgens are male-like hormones needed for normal growth and development in both boys and girls. Adrenaline affects blood sugar levels, blood pressure, and the body’s response to physical stress.

Individuals with LCAH have poor feeding, poor weight gain, dehydration, vomiting, and salt-wasting (loss of sodium the body needs in the urine). Typically, newborns with LCAH will have hyperpigmentation (darkening of the skin). All individuals with congenital adrenal hyperplasia (LCAH) have normal girl genitalia. This is true for all persons, those who are genetically female (XX), and those who are genetically male (XY); all persons with LCAH look female physically.

Genetically female individuals (XX)
These persons have typical external and internal female genitalia and sex organs, and do go through puberty, but are generally infertile. There are not enough hormones produced for eggs to mature and ovulation (releasing of an egg by the ovary) to occur.

Genetically male individuals (XY)
These persons have typical external female genitalia (they have girl parts), but do not have a uterus and have a short, blind pouch vagina since the inner vagina does not form. Testes are present but they are non-functional and located in the abdomen. These individuals do not go through puberty and are infertile.

Unfortunately, if the symptoms are not recognized and treatment is not started, infants with LCAH can die from complications of the disease. There can be variability in LCAH and not every person with LCAH will have exactly the same physical characteristics and hormone levels. A medical geneticist can be help determine the appropriate diagnosis for a person. To locate one of these health professionals, please visit the ACMG website.

The adrenal glands are a pair of walnut-sized organs above the kidneys. They make hormones, which act like chemical messengers to affect other organs in the body. Each adrenal gland has two parts: the medulla and the cortex. The medulla makes the hormone adrenaline. The cortex makes the hormones cortisol, aldosterone, and androgens. Congenital adrenal hyperplasia (CAH) affects how the adrenal cortex works. In severe cases, the adrenal medulla may also not function normally.

Testing for classic Congenital Adrenal Hyperplasia (CAH) is part of the routine newborn screening done in all states in the United States. HOWEVER, this type of testing detects only the two most common forms of CAH, 21-hydroxylase deficiency (about 80% of all cases) and 11-β-hydroxylase efficiency (about 15% of all cases). The more rare forms of CAH, including lipoid congenital adrenal hyperplasia (LCAH) are NOT detected on this screening. The reason for this is that the chemical they are testing in the babies blood, 17-α-OH-progesterone (a precursor of cortisol, a steroid hormone), is increased in the 21-hydroxylase deficiency form and the 11-β-hydroxylase efficiency form, but NOT in the other forms. Therefore, newborn screening is only useful to detect these two forms and not the more rare forms of CAH such as LCAH. Therefore, a normal newborn screening result does NOT rule out LCAH.

Lipoid congenital adrenal hyperplasia (LCAH) is a rare form of congenital adrenal hyperplasia (CAH). There are clinical trials open for CAH, but none specifically targeting patients with LCAH as of June of 2016. However, some of the trials for CAH may be open to individuals diagnosed with LCAH, and so contacting the researchers may be worthwhile to determine if you or a family member could meet study criteria. To find an up-to-date list of clinical trials for CAH, please visit https://clinicaltrials.gov/ and enter "Congenital Adrenal Hyperplasia" into the search box. You could also enter "Lipoid Congenital Adrenal Hyperplasia" periodically to find out if any new clinical trials specific to LCAH have opened up.

The treatment for lipoid congenital adrenal hyperplasia (LCAH) is similar to that for congenital adrenal hyperplasia (CAH). The salt-wasting (losing of salt through urine) should be managed with saline, and the mineralcorticoid deficiency (steroid deficiency) should be treated by giving fludrocortisone (controls the amount of sodium and fluids in the body). Glucocorticoids are steroid hormones that help the body process carbohydrates, proteins, and fats; these can be provided at minimal replacement doses.

Female patients (those who are genetically XX) with LCAH may need estrogen replacement at or after puberty. Intervention such as hormones may be necessary to preserve fertility and the possibility of conception in females with LCAH. Female patients may want to be evaluated by an endocrinologist (a doctor who specializes in hormones) to be managed properly and discuss future reproductive options. To locate an endocrinologist in your area, please visit https://www.aace.com/resources/find-an-endocrinologist.

For male patients (those who are genetically XY), the testes are undescended and nonfunctional and these children physically appear female. Once an individual is diagnosed with LCAH, the testes are removed because they are at risk to develop into cancer later on.

Parents of a child (XX or XY) who has ambiguous genitalia may consider surgery, and should be counseled on the options, benefits, and limitations of this type of surgery.

There is no cure for LCAH, but the symptoms can be managed with appropriate care.

Lipoid congenital adrenal hyperplasia (LCAH) is caused by mutations in the StAR genes; they do not lead to a predisposition to LCAH.

Genetic testing for lipoid congenital adrenal hyperplasia (LCAH) is typically done on a blood sample. Most of the laboratories offering testing for LCAH are outside of the United States. The one laboratory specifically offering testing for LCAH in the United States is targeting individuals who are planning a pregnancy who might be carriers for LCAH, not children who are presenting with symptoms of LCAH. A healthcare provider, such as a medical geneticist, must order this type of testing for patients. To locate a medical geneticist, please visit the ACMG website and to learn more about what laboratories are offering genetic testing, please visit https://www.genetests.org/ and enter "lipoid congenital adrenal hyperplasia" into the search box.

Lipoid congenital adrenal hyperplasia (LCAH) is a very rare form of congenital adrenal hyperplasia, and the true number of people in the world who have LCAH is unknown. LCAH appears to be more common among persons of Japanese, Korean, and Palestinian descent. For more information and support, please visit the Congenital Adrenal Hyperplasia Education and Support Network, a support network for individuals and families affected by CAH, which can be found by visiting http://www.congenitaladrenalhyperplasia.org/.

Lipoid congenital adrenal hyperplasia (LCAH) is fatal if not treated early in infancy. With proper treatment and management, individuals with LCAH can now live into adulthood.

Lipoid congenital adrenal hyperplasia (LCAH) is an inherited disorder. The type of inheritance is autosomal recessive, which refers to the particular pattern of disease in a family and who we see affected. The word autosome means that a specific gene associated with a disease or condition is located on one of the numbered, non-sex chromosomes (packaged and thread-like looking structures in the cell that contain many genes). For all genes, there are two copies. One copy is inherited from the mother and the other copy from the father. Recessive means that two copies of the StAR gene with changes or mutations have to be inherited by a child in order for them to have LCAH.

The parents of a child with LCAH are carriers, meaning that they each have one copy of StAR gene with a mutation and one copy that is working, and do not show symptoms of LCAH but can pass the mutation copy to children they conceive. The risk for two carrier parents to both pass on the abnormal gene (the StAR gene with the mutation) and have an affected child is 25% with each pregnancy. Each pregnancy has a 50% chance of being a carrier for the disease (like the parents, having just one copy of the StAR gene with a mutation). Each pregnancy also has a 25% chance that the child will receive all normal copies of the StAR gene and be unaffected. Therefore, the risk for the parents of a child with LCAH to have another child with LCAH is 25%.

A visit with a genetic counselor can help families to learn more about inheritance of LCAH and who else may be at risk. To locate a genetic counselor near you, please visit [link url="www.nsgc.org” target=”_blank”>www.nsgc.org and click "Find a Genetic Counselor".

A karyotype is essential in the evaluation of an infants with lipoid congenital adrenal hyperplasia (LCAH) to establish their genetic sex (versus their physical sex, what they look like). Diagnosis of LCAH is based on presenting symptoms, blood hormone levels, and visualization of the adrenal glands (these sit on top of the kidneys) but genetic testing of the StAR gene can help to confirm the diagnosis. Confirming the exact mutations that have caused LCAH can allow genetic counselors to advise families on the risk for conceiving another child with LCAH, who else in the family should consider genetic testing, and provide the family with information and support regarding LCAH. A genetic counselor can help coordinate this testing and can be found by visiting the National Society of Genetic Counselors website at [link url="www.nsgc.org” target=”_blank”>www.nsgc.org and clicking the "Find a Genetic Counselor" link.

Starting a support group for lipoid congenital adrenal hyperplasia (LCAH) can be a challenging and rewarding experience. Support groups, such as the National Adrenal Diseases Foundation (NADF), can help people set up a local chapter in their area. Clinics that serve people with LCAH often have social workers or genetic counselors that can help you start a support group.

Most infants born with lipoid congenital adrenal hyperplasia have female genitalia that appear typical and so no disease was suspected at birth.

Lipoid congenital adrenal hyperplasia (LCAH) can be diagnosed before birth, but the mutations in the StAR genes in the family must already be known. Amniocentesis (removing amniotic fluid through a needle in the belly to obtain fetal cells) or chorionic villus sampling (CVS; removal of a bit of the placental tissue by needle to test the cells) during pregnancy can check for the disorder.

Lipoid congenital adrenal hyperplasia can also be referred to under the following names:

Here is a list of support organizations for Congenital Adrenal Hyperplasia (CAH):

Though gene mutations are not always identified in individuals who are diagnosed with lipoid congenital adrenal hyperplasia (LCAH), it is considered to be an inherited genetic disorder.

There are two forms of lipoid congenital adrenal hyperplasia (LCAH): the classic form and the non-classic form.

The classic form
Individuals with the classic form of LCAH have female external genitalia regardless of their genetic sex (both XX and XY persons have female genitalia). These individuals have life-threatening salt wasting (excretion of salt even though the body needs to retain it). Infants typically have poor weight gain and vomiting around 2 weeks to 3 months of age, which prompts medical evaluation. Infants often have hyperpigmentation (darkened skin), hyponatremia (low levels of sodium in the blood), hyperkalemia (high potassium in the blood), and metabolic acidosis (body produces too much acid and the kidneys do not excrete enough).

The non-classic form
In this less common form of LCAH, patients present with later onset (several years after birth) of adrenal insufficiency (the adrenal glands do not produce enough steroid hormones and can also lead to improper amounts of sodium and potassium in the blood and water retention). These individuals typically have only mild or minimally abnormal external genitalia development.

A medical geneticist can be help determine the appropriate diagnosis for a person. To locate one of these health professionals, please visit the ACMG website.

There are several different forms of congenital adrenal hyperplasia (CAH) including: