3-beta-hydroxysteroid dehydrogenase deficiency

The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. To find recruiting, active, or completed trials on 3-beta-hydroxysteroid dehydrogenase deficiency and/or congenital adrenal hyperplasia, click on the following link:
https://clinicaltrials.gov/ct2/results?term=%283-beta- hydroxysteroid+dehydrogenase+deficiency%29+OR+%28congenital+adrenal+hyperplasia%29&Search=Search

You can use a study’s contact information to learn more. You can find information about participating in a clinical trial and learn about resources for travel and lodging assistance through the Get Involved in Research section of our Web site.

You can also find relevant articles on 3-beta-hydroxysteroid dehydrogenase deficiency through PubMed, a searchable database of biomedical journal articles. Although not all of the articles are available for free online, most articles listed in PubMed have a summary available. To obtain the full article, contact a medical/university library or your local library for interlibrary loan. You can also order articles online through the publisher’s Web site. Using "3-beta-hydroxysteroid dehydrogenase deficiency" as your search term should help you locate articles. Use the advanced search feature to narrow your search results. Click here to view our PubMed search results for this condition.

The National Library of Medicine (NLM) can help you find libraries in your area where you can get the full text of medical articles. The webpage also describes how you can get these articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). You can search for libraries at the following link http://nnlm.gov/members/. You can also contact the NLM toll-free at 1-888-346-3656.

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.

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.

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.