Sandbox:Mehrian
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
- 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.[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:
- 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:[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
- ↑ 1.0 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.
- ↑ "3-beta-hydroxysteroid dehydrogenase deficiency - Genetics Home Reference".
- ↑ 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.
- ↑ 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.