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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.

Unknown

Age of onset

Infancy

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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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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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.
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.

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 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

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

    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