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Disease Profile
Congenital lipoid adrenal hyperplasia
Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
Infancy
ICD-10
E25.0
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Lipoid congenital adrenal hyperplasia; Congenital adrenal hyperplasia lipoid; Lipoid CAH;
Categories
Congenital and Genetic Diseases
Summary
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 90790
Definition
A disorder that is one of the most severe forms of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.
Epidemiology
The prevalence is unknown but it is extremely rare and is more common in people of Japanese, Korean and Palestinian ancestry.
Age of onset typically occurs in the antenatal period but congenital anomalies are typically seen in the perinatal period. Boys are not virilized and demonstrate a complete girl phenotype . The external genitalia of girls are normal. Hypoglycemic seizures , vomiting or symptoms of dehydration are common manifestations in the first few weeks of life and can be life threatening. Acute adrenal insufficiency is an emergency and can occur in some cases.
This disease is due to a mutation in the STAR gene , which encodes for a protein that regulates steroid hormone synthesis by mediating cholesterol transfer across the mitochondrial membrane.
The disease follows an autosomal recessive pattern of inheritance.
Visit the Orphanet disease page for more resources.
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
| Medical Terms | Other Names |
Learn More:
HPO ID
|
|---|---|---|
| 80%-99% of people have these symptoms | ||
| Abnormal spermatogenesis | 0008669 | |
| Abnormal urine potassium concentration | 0012598 | |
| Abnormality of prenatal development or birth | 0001197 | |
| Abnormality of the menstrual cycle | 0000140 | |
| Absence of secondary sex characteristics | 0008187 | |
| Acidosis | 0001941 | |
| Adrenocortical adenoma | 0008256 | |
| Adrenocorticotropic |
0011749 | |
| Adrenogenital |
0000840 | |
| Ambiguous genitalia, male |
Ambiguous genitalia in males
|
0000033 |
| 0008258 | ||
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
| Decreased circulating aldosterone level |
Low blood aldosterone level
|
0004319 |
| Decreased circulating androgen level | 0030349 | |
| Decreased circulating cortisol level |
Low blood cortisol level
|
0008163 |
| Decreased fertility in females |
Reduced fertility in females
|
0000868 |
| Decreased fertility in males | 0012041 | |
| Decreased testicular size |
Small testes
Small testis
[ more ] |
0008734 |
| Dehydration | 0001944 | |
| Delayed puberty |
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ] |
0000823 |
| Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ] |
0002750 |
| Ectopic adrenal gland |
Abnormal adrenal gland position
|
0011742 |
| Elevated circulating follicle stimulating hormone level | 0008232 | |
| Elevated circulating luteinizing hormone level | 0011969 | |
| Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
| Feeding difficulties |
Feeding problems
Poor feeding
[ more ] |
0011968 |
| Female external genitalia in individual with 46,XY |
0008730 | |
| Generalized hyperpigmentation | 0007440 | |
|
Enlarged male breast
|
0000771 | |
| Hypercholesterolemia |
Elevated serum cholesterol
Elevated total cholesterol
Increased total cholesterol
[ more ] |
0003124 |
| Hyperkalemia |
Elevated serum potassium levels
|
0002153 |
| Hypernatriuria | 0012605 | |
| Hyponatremia |
Low blood sodium levels
|
0002902 |
| Hypotension |
Low blood pressure
|
0002615 |
| Hypovolemia |
Depleted blood volume
|
0011106 |
| Increased circulating ACTH level |
High blood corticotropin levels
|
0003154 |
| Increased circulating renin level |
Elevated blood renin level
|
0000848 |
| Male pseudohermaphroditism | 0000037 | |
| Neonatal |
Low blood sugar in newborn
|
0001998 |
| 0000939 | ||
| Renal salt wasting |
Loss of salt in urine
|
0000127 |
| Sex reversal | 0012245 | |
|
Decreased body height
Small stature
[ more ] |
0004322 | |
| Urogenital sinus anomaly | 0100779 | |
| Vomiting |
Throwing up
|
0002013 |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000007 | ||
| Hypospadias | 0000047 | |
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
Adrenal Insufficiency United
Toll-free: 1-855-AIUnite (248-6483)
E-mail: [email protected]
Website: https://aiunited.org/ -
Congenital Adrenal Hyperplasia Research Education and Support (CARES) Foundation
2414 Morris Ave, Suite 110
Union, NJ 07083
Toll-free: 866-227-3737
E-mail: [email protected]
Website: https://www.caresfoundation.org
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
In-Depth Information
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Congenital lipoid adrenal hyperplasia. Click on the link to view a sample search on this topic.
Selected Full-Text Journal Articles
- Section on Endocrinology and Committee on Genetics. Technical Report: Congenital Adrenal Hyperplasia. Pediatrics; 2000;106(6):1511-1518.