3 beta-hydroxysteroid dehydrogenase deficiency

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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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Overview

Historical Perspective

3 beta-hydroxysteroid dehydrogenase deficiency first time described in 1962, in a patient with ambiguous genitalia and salt wasting.[1]

Classification

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

Pathophysiology

The pathogenesis of 3 beta-hydroxysteroid dehydrogenase deficiency is characterized by impaired pathway biosynthesis of progestins, mineralocorticoids, glucocorticoids, and androgens. As a result of cortisol absence, corticotropin (ACTH) secretion increases and leads to produce 3-hydroxy-delta-5-steroids pregnenolone, 17-hydroxypregnenolone, and dehydroepiandrosterone (DHEA), also their sulfates. In peripheral tissues the conversion of DHEA sulfate (DHEAS) to testosterone, is responsible for virilization in females.[1]

Causes

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

Differentiating 3 beta-hydroxysteroid dehydrogenase deficiency 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 alpha-hydroxylase deficiency, gestational hyperandrogenism and P450-oxidoreductase deficiency.

Epidemiology and Demographics

The prevalence of 3 beta-hydroxysteroid dehydrogenase deficiency is unknown. At least 60 affected individuals have been reported.[2]

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 symptoms of both cortisol and aldosterone deficiency such as feeding difficulties, vomiting, volume depletion, muscle weakness; undervirilization in newborn males, and mild virilization and clitoromegaly in newborn female. [3]

Physical Examination

Physical examination may be remarkable for: undervirilization in newborn males and mild virilization and clitoromegaly in newborn female.

Laboratory Findings

Diagnosis for 3 beta-hydroxysteroid dehydrogenase deficiency is based on delta-5-17-hydroxypregnenolone high levels. [4] 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.

References

  1. 1.0 1.1 BONGIOVANNI AM (1962). "The adrenogenital syndrome with deficiency of 3 beta-hydroxysteroid dehydrogenase". J. Clin. Invest. 41: 2086–92. doi:10.1172/JCI104666. PMC 291138. PMID 13968789.
  2. "3-beta-hydroxysteroid dehydrogenase deficiency - Genetics Home Reference".
  3. Simard J, Rheaume E, Mebarki F, Sanchez R, New MI, Morel Y, Labrie F (1995). "Molecular basis of human 3 beta-hydroxysteroid dehydrogenase deficiency". J. Steroid Biochem. Mol. Biol. 53 (1–6): 127–38. PMID 7626445.
  4. Lutfallah C, Wang W, Mason JI, Chang YT, Haider A, Rich B, Castro-Magana M, Copeland KC, David R, Pang S (2002). "Newly proposed hormonal criteria via genotypic proof for type II 3beta-hydroxysteroid dehydrogenase deficiency". J. Clin. Endocrinol. Metab. 87 (6): 2611–22. doi:10.1210/jcem.87.6.8615. PMID 12050224.


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