3 beta-hydroxysteroid dehydrogenase deficiency

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mehrian Jafarizade, M.D [2]

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Historical Perspective

3 beta-hydroxysteroid dehydrogenase deficiency first time described in 1962, a patient with ambiguous genitalia and salt wasting.

Classification

There are three types of 3 beta-hydroxysteroid dehydrogenase deficiency: the salt-wasting, non-salt-wasting, and non-classic types.

Pathophysiology

• The pathogenesis of 3 beta-hydroxysteroid dehydrogenase deficiency is characterized by impaired pathway biosynthesis of progestins, mineralocorticoids, glucocorticoids, and androgens (therefore estrogen. As a result of cortisol absence, corticotropin (ACTH) secretion increases leads to produce 3-hydroxy-delta-5-steroids pregnenolone, 17-hydroxypregnenolone, and dehydroepiandrosterone (DHEA), also their sulfates.

Causes

• 3 beta-hydroxysteroid dehydrogenase deficiency is caused by a mutation in the HSD3B2 gene.

Differentiating [disease name] from other Diseases

• 3 beta-hydroxysteroid dehydrogenase deficiency must be differentiated from other diseases that cause ambiguous genitalia such as:
• 21-hydroxylase deficiency
• 11-β hydroxylase deficiency
• 17-α hydroxylase deficiency
• Gestational hyperandrogenism
• P450-oxidoreductase deficiency

Epidemiology and Demographics

• The prevalence of 3 beta-hydroxysteroid dehydrogenase deficiency is unknown. At least 60 affected individuals have been reported.

Risk Factors

• Common risk factors in the development of 3 beta-hydroxysteroid dehydrogenase deficiency is family history of this disease.

Diagnosis

Symptoms

• Symptoms of 3 beta-hydroxysteroid dehydrogenase deficiency may include the following:

Symptoms of both cortisol and aldosterone deficiency:

• Feeding difficulties
• Vomiting
• Volume depletion
• Muscle weakness

• Undervirilization in newborn males.
• Mild virilization and clitoromegaly in newborn female because of peripheral conversion of DHEA sulfate (DHEAS) to testosterone.

Physical Examination

• Physical examination may be remarkable for:

Undervirilization in newborn males and mild virilization and clitoromegaly in newborn female.

Laboratory Findings

Hormonal criteria described for 3 beta-hydroxysteroid dehydrogenase deficiency based on delta-5-17-hydroxypregnenolone levels as following:

• Neonates ≥12,600 ng/dL
• Tanner stage I children ≥5490 ng/dL
• Children with premature pubarche ≥9790 ng/dL
• Adults ≥9620 ng/dL

Other laboratory findings include:

• [Hyponatremia]
• [Hyperkalemia]

Treatment

Medical Therapy

• The mainstay of therapy for 3 beta-hydroxysteroid dehydrogenase deficiency is hydrocortisone and fludrocortisone acetate.
• Gender-appropriate replacement of androgens or estrogens with progestins is necessary at the puberty time.

Surgery

The reconstruction surgery for ambiguous genitalia in genetically male patients may be applied.