Question: How many people are affected by 3-beta-hydroxysteroid dehydrogenase deficiency ?
Answer: The exact prevalence of 3-HSD deficiency is unknown. At least 60 affected individuals have been reported.
Source: GHR

Question: What are the genetic changes related to 3-beta-hydroxysteroid dehydrogenase deficiency ?
Answer: Mutations in the HSD3B2 gene cause 3-HSD deficiency. The HSD3B2 gene provides instructions for making the 3-HSD enzyme. This enzyme is found in the gonads and adrenal glands. The 3-HSD enzyme is involved in the production of many hormones, including cortisol, aldosterone, androgens, and estrogen. Cortisol has numerous functions such as maintaining energy and blood sugar levels, protecting the body from stress, and suppressing inflammation. Aldosterone is sometimes called the salt-retaining hormone because it regulates the amount of salt retained by the kidney. The retention of salt affects fluid levels and blood pressure. Androgens and estrogen are essential for normal sexual development and reproduction. 3-HSD deficiency is caused by a deficiency (shortage) of the 3-HSD enzyme. The amount of functional 3-HSD enzyme determines whether a person will have the salt-wasting or non-salt-wasting type of the disorder. Individuals with the salt-wasting type have HSD3B2 gene mutations that result in the production of very little or no enzyme. People with the non-salt-wasting type of this condition have HSD3B2 gene mutations that allow the production of some functional enzyme, although in reduced amounts.
Source: GHR

Question: Is 3-beta-hydroxysteroid dehydrogenase deficiency inherited ?
Answer: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Source: GHR

Question: What are the treatments for 3-beta-hydroxysteroid dehydrogenase deficiency ?
Answer: These resources address the diagnosis or management of 3-beta-hydroxysteroid dehydrogenase deficiency: - Genetic Testing Registry: 3 beta-Hydroxysteroid dehydrogenase deficiency - Great Ormond Street Hospital for Children: Cortisol Deficiency - MedlinePlus Encyclopedia: Ambiguous Genitalia - MedlinePlus Encyclopedia: Congenital Adrenal Hyperplasia - MedlinePlus Health Topic: Assisted Reproductive Technology - National Institutes of Health Clinical Center: Managing Adrenal Insufficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Source: GHR