3-beta-hydroxysteroid dehydrogenase deficiency
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.
Age of Onset
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.
X-linked 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.
Other Names (AKA)
Adrenal hyperplasia 2; Adrenal hyperplasia II; 3b-hydroxysteroid dehydrogenase deficiency;
Congenital and Genetic Diseases; Endocrine Diseases; Female Reproductive Diseases;
3-beta-hydroxysteroid dehydrogenase (3BHSD) deficiency is a form of congenital adrenal hyperplasia, a group of conditions that interfere with the body's ability to make
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||
|80%-99% of people have these symptoms|
|Abnormal oral glucose tolerance||0004924|
|Abnormality of the menstrual cycle||0000140|
|Accelerated skeletal maturation||
Advanced bone age
Early bone maturation
[ more ]
|Ambiguous genitalia, male||
Ambiguous genitalia in males
[ more ]
|Decreased circulating aldosterone level||
Low blood aldosterone level
|Decreased circulating cortisol level||
Low blood cortisol level
Delayed pubertal development
Delayed pubertal growth
[ more ]
|Delayed skeletal maturation||
Delayed bone maturation
Delayed skeletal development
[ more ]
|Elevated circulating follicle stimulating hormone level||0008232|
|Elevated circulating luteinizing hormone level||0011969|
[ more ]
|Female external genitalia in individual with 46,XY
Elevated serum potassium levels
Low blood sodium levels
Low blood pressure
Depleted blood volume
|Increased circulating ACTH level||
High blood corticotropin levels
|Increased circulating renin level||
Elevated blood renin level
Low blood sugar in newborn
|Renal salt wasting||
Loss of salt in urine
|Urogenital sinus anomaly||0100779|
|30%-79% of people have these symptoms|
|Absence of secondary sex characteristics||0008187|
|Ambiguous genitalia, female||
Atypical appearance of female genitals
Cleft of scrotum
|Decreased fertility in females||
Reduced fertility in females
|Decreased fertility in males||0012041|
|Decreased testicular size||
[ more ]
|Enlarged polycystic ovaries||
Enlarged ovaries with cysts
Enlarged male breast
Increased genital pigmentation
Body fails to respond to insulin
|5%-29% of people have these symptoms|
|Abnormality of the labia majora||
Abnormality of vaginal lips
|Ectopic adrenal gland||
Abnormal adrenal gland position
|Percent of people who have these symptoms is not available through HPO|
Enlarged adrenal glands
Ambiguous external genitalia
Ambiguous external genitalia at birth
[ more ]
[ more ]
Premature pubic hair growth
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
- Oral hydrocortisone (or other glucocorticoid) hydrocortisone tablets are the preferred choice for treatment. In children, premixed, oral suspensions of hydrocortisone and long-acting glucocorticoid preparations should be avoided.
- Mineralocorticoid replacement by oral fludrocortisone acetate those with non–salt-losing forms do not need mineralocorticoid replacement.
- Sex steroid replacement at puberty for those with a complete deficiency including testosterone in males and cyclic
estrogen progesteronetherapy in females. This promotes development of secondary sexual characteristics in both males and females, and cyclic menstrual bleeding in females with normal female chromosomes.
In people with late-onset (non-classic) 3BHSD deficiency, the need for replacement therapy varies depending on the severity of the condition. Glucocorticoid replacement suppresses excess male
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.
Congenital Adrenal Hyperplasia Research Education and Support (CARES) Foundation
2414 Morris Ave, Suite 110
Union, NJ 07083
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.
- Genetics Home Reference (GHR) contains information on 3-beta-hydroxysteroid dehydrogenase deficiency. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- 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 3-beta-hydroxysteroid dehydrogenase deficiency. Click on the link to view a sample search on this topic.
- 3-beta-hydroxysteroid dehydrogenase deficiency. Genetics Home Reference. April 2015; https://ghr.nlm.nih.gov/condition/3-beta-hydroxysteroid-dehydrogenase-deficiency.
- Pang S. Congenital adrenal hyperplasia owing to 3 beta-hydroxysteroid dehydrogenase deficiency. Endocrinol Metab Clin North Am. March 2001; 30(1):81-99.
- J Paul Frindik. 3-Beta-Hydroxysteroid Dehydrogenase Deficiency. Medscape Reference. February 11, 2014; https://emedicine.medscape.com/article/920621-overview.