National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Congenital lipoid adrenal hyperplasia


Other Names:
Lipoid congenital adrenal hyperplasia; Congenital adrenal hyperplasia lipoid; Lipoid CAH; Lipoid congenital adrenal hyperplasia; Congenital adrenal hyperplasia lipoid; Lipoid CAH; CLAH; Congenital lipoid adrenal hyperplasia due to STAR deficency See More
Categories:
This disease is grouped under:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

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.

Clinical description
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.

Etiology
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.

Genetic counseling
The disease follows an autosomal recessive pattern of inheritance.

Visit the Orphanet disease page for more resources.
Last updated: 10/1/2012

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.

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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 hormone excess 0011749
Adrenogenital syndrome 0000840
Ambiguous genitalia, male
Ambiguous genitalia in males
0000033
Congenital adrenal hyperplasia 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 karyotype 0008730
Generalized hyperpigmentation 0007440
Gynecomastia
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 hypoglycemia
Low blood sugar in newborn
0001998
Osteoporosis 0000939
Renal salt wasting
Loss of salt in urine
0000127
Sex reversal 0012245
Short stature
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
Autosomal recessive inheritance 0000007
Hypospadias 0000047
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

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

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

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