3-beta-hydroxysteroid dehydrogenase deficiency

Title

Other Names:

Adrenal hyperplasia 2; Adrenal hyperplasia II; 3b-hydroxysteroid dehydrogenase deficiency; Adrenal hyperplasia 2; Adrenal hyperplasia II; 3b-hydroxysteroid dehydrogenase deficiency; HSD3B deficiency; 3-beta-HSD deficiency; Type II 3-beta-hydroxysteroid dehydrogenase deficiency; CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency; Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency See More

Categories:

Congenital and Genetic Diseases; Endocrine Diseases; Female Reproductive Diseases; Congenital and Genetic Diseases; Endocrine Diseases; Female Reproductive Diseases; Kidney and Urinary Diseases See More

Summary Summary

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 hormones. People with this condition lack many of the hormones made in the gonads (testes or ovaries) and the adrenal glands. There are three types of 3BHSD deficiency - the salt-wasting form, non-salt-wasting form, and non-classic form. Signs and symptoms depend on the type of 3BHSD deficiency; the age at diagnosis; and the sex of the affected person. The salt-wasting form is the most severe type and can even be life-threatening. People with this form are generally diagnosed at birth due to symptoms related to abnormal salt reabsorption (i.e. dehydration, poor feeding, vomiting). Males with any form of the condition often have abnormalities of the external genitalia and are frequently infertile. Females with the condition may have slight genital abnormalities at birth, but often go on to experience irregular menstruation, hirsutism, and infertility as they get older. 3BHSD deficiency is caused by changes (mutations) in the HSD3B2 gene and is inherited in an autosomal recessive manner. Treatment varies but may include medications and/or surgery.^[1]^[2]

Last updated: 11/17/2015

Symptoms 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.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Abnormal oral glucose tolerance		0004924
Abnormal sex determination		0012244
Abnormality of the menstrual cycle		0000140
Accelerated skeletal maturation		0005616
Acidosis		0001941
Adrenocorticotropic hormone excess		0011749
Adrenogenital syndrome		0000840
Ambiguous genitalia, male	Ambiguous genitalia in males	0000033
Androgen insufficiency		0008226
Congenital adrenal hyperplasia		0008258
Cryptorchidism	Undescended testes Undescended testis [ more ]	0000028
Decreased circulating aldosterone level		0004319
Decreased circulating cortisol level		0008163
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
Elevated circulating follicle stimulating hormone level		0008232
Elevated circulating luteinizing hormone level		0011969
Feeding difficulties	Feeding problems Poor feeding [ more ]	0011968
Female external genitalia in individual with 46,XY karyotype		0008730
Generalized hyperpigmentation		0007440
Glucose intolerance	Impaired glucose tolerance	0000833
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		0000848
Male pseudohermaphroditism		0000037
Neonatal hypoglycemia	Low blood sugar in newborn	0001998
Osteoporosis		0000939
Perineal hypospadias		0000051
Premature adrenarche		0012412
Renal salt wasting		0000127
Urogenital sinus anomaly		0100779
Vomiting	Throwing up	0002013
30%-79% of people have these symptoms
Absence of secondary sex characteristics		0008187
Ambiguous genitalia, female		0000061
Bifid scrotum	Cleft of scrotum	0000048
Clitoral hypertrophy		0008665
Decreased fertility in females	Reduced fertility in females	0000868
Decreased fertility in males		0012041
Decreased testicular size	Small testes Small testis [ more ]	0008734
Enlarged polycystic ovaries		0008675
Gynecomastia		0000771
Hyperpigmented genitalia	Increased genital pigmentation	0030258
Insulin resistance		0000855
5%-29% of people have these symptoms
Abnormality of the labia majora	Abnormality of vaginal lips	0012881
Acne		0001061
Ectopic adrenal gland	Abnormal adrenal gland position	0011742
Hirsutism		0001007
Percent of people who have these symptoms is not available through HPO
Absent scrotum		0008707
Adrenal hyperplasia	Enlarged adrenal glands	0008221
Ambiguous genitalia	Ambiguous external genitalia Ambiguous external genitalia at birth Intersex genitalia [ more ]	0000062
Autosomal recessive inheritance		0000007
Hypospadias		0000047
Micropenis	Short penis Small penis [ more ]	0000054
Premature pubarche	Premature pubic hair growth	0012411

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Last updated: 6/1/2018

Diagnosis Diagnosis

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.

Testing Resources

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.

Treatment Treatment

People with the salt-wasting form of 3-beta–hydroxysteroid dehydrogenase (3BHSD) deficiency need replacement of glucocorticoids, mineralocorticoids, and sex steroids. This may include:

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-progesterone therapy 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 hormones (androgens) in children with premature onset of puberty. In pubertal and post-pubertal females with the late-onset form, glucocorticoid replacement alone may correct menstrual irregularities and infertility, and decrease hirsutism and acne.^[3]

Last updated: 2/22/2016

Find a Specialist Find a Specialist

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

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Prognosis Prognosis

The long-term outlook (prognosis) for people with 3BHSD deficiency is usually good-to-excellent with adequate replacement glucocorticoid and mineralocorticoid therapy (if needed) and monitoring.^[3]

Because the enzyme deficiency is inherited and caused by genetic mutations present from birth, the condition will inherently be present (i.e. enzyme production will not increase during an affected person's lifetime).

Males with poorly-controlled congenital adrenal hyperplasia (CAH) are at risk for benign testicular adrenal rest tumors.^[3]

Last updated: 2/22/2016

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Organizations 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

Congenital Adrenal Hyperplasia Research Education and Support (CARES) Foundation
2414 Morris Ave, Suite 110
Union, NJ 07083
Toll-free: 866-227-3737
E-mail: contact@caresfoundation.org
Website: http://www.caresfoundation.org
Hormone Health Network
Toll-free: 800-HORMONE (1-800-467-6663)
E-mail: hormone@endocrine.org
Website: http://www.hormone.org
Hormone Health Network
Toll-free: 1–800–HORMONE (1–800–467–6663)
E-mail: hormone@endocrine.org
Website: http://www.hormone.org
Metabolic Support UK
5 Hilliards Court
Sandpiper Way
Chester Business Park
Chester, CH4 9QP United Kingdom
Toll-free: 0800 652 3181
Telephone: 0845 241 2173
E-mail: https://www.metabolicsupportuk.org/contact-us
Website: https://www.metabolicsupportuk.org
National Adrenal Diseases Foundation (NADF)
P.O. Box 566
Lake Zurich, IL 60047
Telephone: (847) 726-9010
E-mail: nadfsupport@nadf.us
Website: http://www.nadf.us/
The Endocrine Society
8401 Connecticut Avenue, Suite 900
Chevy Chase, MD 20815
Toll-free: 888–363–6274
Telephone: 301–941–0200
Fax: 301–941–0259
E-mail: societyservices@endo-society.org
Website: http://www.endo-society.org

Do you know of an organization? We want to hear from you.

Learn More 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.

Where to Start

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.

In-Depth Information

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.

Related Diseases Related Diseases

The following diseases are related to 3-beta-hydroxysteroid dehydrogenase deficiency. If you have a question about any of these diseases, you can contact GARD.

Congenital adrenal hyperplasia

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

I am a 24-year-old female and I was diagnosed with HSD3B deficiency about 5 years ago. I was prescribed heavy contraceptive pills (essentially hormones) but, so far, I have refused to take them because of associated side effects. What do you advise for HSD3B deficiency management? Are there cases of people that have started producing the enzyme later on in their lives? What research is out there that I could get my hands on? See answer

Have a question? Contact a GARD Information Specialist.

References References

3-beta-hydroxysteroid dehydrogenase deficiency. Genetics Home Reference. April 2015; http://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; http://emedicine.medscape.com/article/920621-overview.

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