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, a patient with ambiguous genitalia and salt wasting.[1]

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.[1]

Causes

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

Differentiating [disease name] from other Diseases

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 the following:[3]

Symptoms of both cortisol and aldosterone deficiency:

  • 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:[4]

  • 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.

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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