3 beta-hydroxysteroid dehydrogenase deficiency: Difference between revisions
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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.<ref name="pmid13968789">{{cite journal |vauthors=BONGIOVANNI AM |title=The adrenogenital syndrome with deficiency of 3 beta-hydroxysteroid dehydrogenase |journal=J. Clin. Invest. |volume=41 |issue= |pages=2086–92 |year=1962 |pmid=13968789 |pmc=291138 |doi=10.1172/JCI104666 |url=}}</ref> | |||
==[[3 beta-hydroxysteroid dehydrogenase | ==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.<ref name="pmid13968789">{{cite journal |vauthors=BONGIOVANNI AM |title=The adrenogenital syndrome with deficiency of 3 beta-hydroxysteroid dehydrogenase |journal=J. Clin. Invest. |volume=41 |issue= |pages=2086–92 |year=1962 |pmid=13968789 |pmc=291138 |doi=10.1172/JCI104666 |url=}}</ref> | |||
== | ==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-α 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.<ref name="url3-beta-hydroxysteroid dehydrogenase deficiency - Genetics Home Reference">{{cite web |url=https://ghr.nlm.nih.gov/condition/3-beta-hydroxysteroid-dehydrogenase-deficiency#statistics |title=3-beta-hydroxysteroid dehydrogenase deficiency - Genetics Home Reference |format= |work= |accessdate=}}</ref> | |||
== | ==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:<ref name="pmid7626445">{{cite journal |vauthors=Simard J, Rheaume E, Mebarki F, Sanchez R, New MI, Morel Y, Labrie F |title=Molecular basis of human 3 beta-hydroxysteroid dehydrogenase deficiency |journal=J. Steroid Biochem. Mol. Biol. |volume=53 |issue=1-6 |pages=127–38 |year=1995 |pmid=7626445 |doi= |url=}}</ref> | |||
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:<ref name="pmid12050224">{{cite journal |vauthors=Lutfallah C, Wang W, Mason JI, Chang YT, Haider A, Rich B, Castro-Magana M, Copeland KC, David R, Pang S |title=Newly proposed hormonal criteria via genotypic proof for type II 3beta-hydroxysteroid dehydrogenase deficiency |journal=J. Clin. Endocrinol. Metab. |volume=87 |issue=6 |pages=2611–22 |year=2002 |pmid=12050224 |doi=10.1210/jcem.87.6.8615 |url=}}</ref> | |||
* 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== | |||
{{Reflist|2}} | |||
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Revision as of 19:55, 8 August 2017
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mehrian Jafarizade, M.D [2]
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 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-α 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 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.