3-beta-Hydroxysteroid Dehydrogenase Deficiency - Clinical Features, Diagnosis, and Treatment

Introduction:

3beta-HSD deficiency is also called 3beta hydroxysteroid dehydrogenase deficiency disorder. In 3beta-HSD deficiency, male, as well as female sexual development is affected. This happens because these individuals lack the ability to produce hormones. Thus, many of the hormones that are produced in the gonads and testes are not produced in these individuals. 3beta-HSD deficiency disorder is of the following three types namely:

• The salt-wasting form.

• The non-salt wasting form.

• The non-classic form.

Amongst all three types, individuals suffering from salt wasting form have the most severe symptoms. It is an extremely rare disorder, and cases of less than one thousand have been reported in medical journals.

Can a Child Get 3BETA HSD Deficiency Disorder From Their Parents?

3beta hydroxysteroid dehydrogenase deficiency disorder is an inherited genetic disorder with an autosomal recessive inheritance pattern. This means that both the parents, the mother, and the father of the individual affected by 3beta hydroxysteroid dehydrogenase deficiency disorder carry the defective genes. Still, the parents do not show the symptoms of the disease. Genetic mutations (structural changes in the genes) are associated with 3beta hydroxysteroid dehydrogenase deficiency disorder. There is a twenty-five percent chance or probability that parents who are carriers of the defective gene will have children who will have 3beta hydroxysteroid dehydrogenase deficiency disorder. Genetic mapping in the prenatal stage can help doctors analyze the likelihood of the child suffering from 3beta hydroxysteroid dehydrogenase deficiency disorder.

What Are the Clinical Features of 3BETA HSD Deficiency Disorder?

Following are the few commonly noted clinical features in individuals suffering from this disorder:

• Frequent vomiting, dehydration, and poor feeding are noted in these individuals since birth, and these symptoms last for a long span in these individuals. Causes for frequent vomiting, dehydration, and poor feeding can be attributed to abnormal salt absorption that takes place in individuals suffering from 3beta hydroxysteroid dehydrogenase deficiency disorder.

• Presence of incomplete or ambiguous genital organ.

• Males or females who get affected by this disorder are mostly infertile.

• Females have a common complaint of irregular periods as they get older.

What Are the Diagnostic Approaches for 3BETA HSD Deficiency Disorder?

Following are a few diagnostic approaches that help identify 3beta hydroxysteroid dehydrogenase deficiency disorder:

• Laboratory tests can be prescribed to check the levels of sex hormones, such as testosterone and luteinizing hormones. A reduction in the quantity or complete absence of testosterone, luteinizing hormones, or other androgenic sex hormones indicates that the individual has 3beta hydroxysteroid dehydrogenase deficiency disorder.

• Tests to check for conditions like azoospermia (lack of sperm production) at puberty are also considered essential diagnostic criteria.

• If the individual has been brought up as a girl since birth (this is the only scenario in most cases) but there is a lack of menstruation at puberty, then it is an essential indicator of these disorders.

• On clinical examination, the doctor notes down the absence of development of facial hair, lack of voice maturation, or appearance as noted in gynecomastia (breasts development in males). These characteristics are pointed out to be necessary for the easy diagnosis of such disorders.

• Genetic tests are prescribed that include genetic mapping, which helps in identifying the defective gene and its location in the defective gene in the chromosome. So, through genetic testing, doctors can classify the exact type of sex development disorders, and as the cause and kind get identified, treatment protocols can be efficiently planned.

Following are a few biochemical or laboratory tests that can aid the early detection of 3beta hydroxysteroid dehydrogenase deficiency disorder:

• Serum testosterone levels are determined in order to detect this disorder. If the circulating testosterone levels in the blood are high, it indicates that the individual may be suffering from 3beta hydroxysteroid dehydrogenase deficiency disorder.

• Serum renin levels are also determined in order to detect this disorder. If the circulating renin levels in the blood are high, it indicates that the individual may be suffering from 3beta hydroxysteroid dehydrogenase deficiency disorder.

These laboratory tests also depict the individual suffering from a disorder associated with adrenal gland malfunctioning.

What Are the Treatment Protocols Present for 3BETA HSD Deficiency Disorder?

Following are the treatment protocols that are being practiced at present:

• Hydrocortisone therapy is the initial treatment protocol. It targets maintaining the hormonal levels in affected individuals.

• In cases with adrenal insufficiency, fluid replacement therapy is advised.

• Surgeries to correct genital abnormalities.

What Is Meant by Disorders of Sexual Development?

Disorders of sexual development comprise a group of genetic disorders in which a lack of synchronization exists between the expression of sexual characteristics, chromosome number, and gonads form. Earlier terminologies like pseudohermaphrodite, hermaphrodite, and intersex were used, but presently these terminologies have been replaced by the term disorders of sex development (DSD). Following are a few recognized disorders of sex development:

• 46 XX disorders of sexual development (these individuals have female genetic constituents, but they have a male appearance).

• Aromatase deficiency (reduced female sex hormones and increased male sex hormones).

• Glucocorticoid receptor gene mutation (disorder associated with the glucocorticoid receptor).

• Virilizing maternal tumors (human chorionic gonadotropin level increases in pregnancy, which causes elevated androgen production).

• 46 XY disorders of sexual development (a condition that occurs due to incomplete masculinization in intrauterine life).

• Denys-Drash syndrome (abnormal kidney function is noted in this disorder).

• Campomelic syndrome (a genetic disorder affecting the baby's development of lungs, airways, bones, and reproductive organs).

• Swyer syndrome (individuals suffering from this disorder have non-functional testes or ovaries).

• Leydig cell aplasia (this disorder affects male sexual development).

• 17 ketosteroid reductase deficiency.

Conclusion:

Psychological assurance in cases diagnosed with 3beta hydroxysteroid dehydrogenase deficiency disorder is significant. As soon as abnormalities are noted in the child, the parents should be aware of their child's condition. Various government organizations and NGOs (nongovernmental organizations) have created awareness regarding sex development disorders. Inheritance determines the individual's characteristics, and DNA's (deoxyribonucleic acid) ability to mutate is a platform for human evolution. Various researchers are currently studying the inheritance pattern, and this research work also focuses on locating the genes that help identify the cause of a particular disease. Genetic mapping is the latest advancement in the field of medical genetics. Medical genetics advancement will surely help in the early diagnosis of these conditions and the genetic approaches for the treatment of these conditions.