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

3 beta-hydroxysteroid dehydrogenase deficiency is a rare disease due to congenital adrenal hyperplasia. It is characterized by impaired biosynthesis pathway 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. 3 beta-hydroxysteroid dehydrogenase deficiency is caused by a mutation in the HSD3B2 gene. Symptoms of 3 beta-hydroxysteroid dehydrogenase deficiency may include symptoms of both cortisol and aldosterone deficiency such as feeding difficulties, vomiting, volume depletion, undervirilization in newborn males, and mild virilization and clitoromegaly in newborn female. Diagnosis for 3 beta-hydroxysteroid dehydrogenase deficiency is based on delta-5-17-hydroxypregnenolone high levels in serum laboratory tests. The mainstay of therapy for this disease is hydrocortisone and fludrocortisone acetate. The reconstruction surgery for ambiguous genitalia in genetically male patients may be applied.

Historical Perspective

3 beta-hydroxysteroid dehydrogenase deficiency was 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:

  • Salt-wasting
  • Non-salt-wasting

Pathophysiology

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

Differentials of ambiguous genitalia

3 beta-hydroxysteroid dehydrogenase deficiency must be differentiated from diseases that cause ambiguous genitalia:[2][3]

Disease name Steroid status Important clinical findings
Increased Decreased
3 beta-hydroxysteroid dehydrogenase deficiency
Classic type of 21-hydroxylase deficiency
11-β hydroxylase deficiency
17-α hydroxylase deficiency
Gestational hyperandrogenism

Differentials based on virilization and hirsutism

3 beta-hydroxysteroid dehydrogenase deficiency must be differentiated from diseases that cause virilization and hirsutism in female:[4][3][5]

Disease name Steroid status Other laboratory Important clinical findings
3 beta-hydroxysteroid dehydrogenase deficiency Increased:

Decreased:

Non-classic type of 21-hydroxylase deficiency Increased:
  • No symptoms in infancy and male
11-β hydroxylase deficiency Increased:

Decreased:

Polycystic ovary syndrome
Adrenal tumors
  • Variable levels depends on tumor type
  • Older age
  • Rapidly progressive symptoms
Ovarian virilizing tumor
  • Variable levels depends on tumor type
  • Older age
  • Rapidly progressive symptoms
Cushing's syndrome
Hyperprolactinemia

Epidemiology and Demographics

The prevalence of 3 beta-hydroxysteroid dehydrogenase deficiency is unknown. At least 60 affected individuals have been reported.[6]

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 male newborns, and mild virilization and clitoromegaly in newborn female. [7]

Physical Examination

Physical examination may be remarkable for:

Laboratory Findings

Diagnosis for 3 beta-hydroxysteroid dehydrogenase deficiency is based on high levels of delta-5-17-hydroxypregnenolone. [8] Other laboratory findings incliude, hyponatremia and hyperkalemia.

Treatment

Medical Therapy

The mainstay of therapy for 3 beta-hydroxysteroid dehydrogenase deficiency is hydrocortisone and fludrocortisone acetate adiminstration. Gender-appropriate replacement of androgens or estrogens with progestins is necessary at the puberty time. The goal of therapy includes the following: [9][10][11]

  • Treatment for 3 beta-hydroxysteroid dehydrogenase deficiency is by the use of glucocorticoids such as:

Surgery

The reconstruction surgery for ambiguous genitalia in genetically male patients may be applied.[12]

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. PMC 291138Freely accessible. PMID 13968789. doi:10.1172/JCI104666. 
  2. Hughes IA, Nihoul-Fékété C, Thomas B, Cohen-Kettenis PT (2007). "Consequences of the ESPE/LWPES guidelines for diagnosis and treatment of disorders of sex development". Best Pract. Res. Clin. Endocrinol. Metab. 21 (3): 351–65. PMID 17875484. doi:10.1016/j.beem.2007.06.003. 
  3. 3.0 3.1 White PC, Speiser PW (2000). "Congenital adrenal hyperplasia due to 21-hydroxylase deficiency". Endocr. Rev. 21 (3): 245–91. PMID 10857554. doi:10.1210/edrv.21.3.0398. 
  4. Hohl A, Ronsoni MF, Oliveira M (2014). "Hirsutism: diagnosis and treatment". Arq Bras Endocrinol Metabol. 58 (2): 97–107. PMID 24830586. 
  5. Melmed, Shlomo (2016). Williams textbook of endocrinology. Philadelphia, PA: Elsevier. ISBN 978-0323297387. =
  6. "3-beta-hydroxysteroid dehydrogenase deficiency - Genetics Home Reference". 
  7. 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. 
  8. 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. PMID 12050224. doi:10.1210/jcem.87.6.8615. 
  9. El-Maouche D, Arlt W, Merke DP (2017). "Congenital adrenal hyperplasia". Lancet. PMID 28576284. doi:10.1016/S0140-6736(17)31431-9. 
  10. Merke DP, Poppas DP (2013). "Management of adolescents with congenital adrenal hyperplasia". Lancet Diabetes Endocrinol. 1 (4): 341–52. PMC 4163910Freely accessible. PMID 24622419. doi:10.1016/S2213-8587(13)70138-4. 
  11. Hughes IA (1988). "Management of congenital adrenal hyperplasia.". Arch Dis Child. 63 (11): 1399–404. PMC 1779155Freely accessible. PMID 3060026. 
  12. Schnitzer JJ, Donahoe PK (2001). "Surgical treatment of congenital adrenal hyperplasia". Endocrinol. Metab. Clin. North Am. 30 (1): 137–54. PMID 11344932. 



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