3 beta-hydroxysteroid dehydrogenase deficiency: Difference between revisions
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==Historical Perspective== | ==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 deficiency first time described in 1962, in 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> | ||
==Classification== | ==Classification== | ||
There are | There are two types of 3 beta-hydroxysteroid dehydrogenase deficiency: the salt-wasting, and non-salt-wasting type. | ||
==Pathophysiology== | ==Pathophysiology== | ||
The pathogenesis of 3 beta-hydroxysteroid dehydrogenase deficiency is characterized by impaired pathway biosynthesis of progestins, mineralocorticoids, glucocorticoids, and androgens | 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.<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== | ==Causes== | ||
3 beta-hydroxysteroid dehydrogenase deficiency is caused by a mutation in the HSD3B2 gene. | 3 beta-hydroxysteroid dehydrogenase deficiency is caused by a mutation in the HSD3B2 [[gene]]. | ||
==Differentiating 3 beta-hydroxysteroid dehydrogenase deficiency from other Diseases== | ==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- | 3 beta-hydroxysteroid dehydrogenase deficiency must be differentiated from other diseases that cause [[ambiguous genitalia]] such as: [[21-hydroxylase deficiency]], [[11 beta hydroxylase deficiency|11-β hydroxylase deficiency]], [[17 alpha-hydroxylase deficiency]], gestational [[hyperandrogenism]] and P450-oxidoreductase deficiency. | ||
==Epidemiology and Demographics== | ==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> | 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== | ==Risk Factors== | ||
Common risk factors in the development of 3 beta-hydroxysteroid dehydrogenase deficiency is family history of this disease. | Common risk factors in the development of 3 beta-hydroxysteroid dehydrogenase deficiency is [[family history]] of this disease. | ||
== Diagnosis == | == Diagnosis == | ||
=== Symptoms === | === Symptoms === | ||
Symptoms of 3 beta-hydroxysteroid dehydrogenase deficiency may include | 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. <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> | ||
=== Physical Examination === | === Physical Examination === | ||
Physical examination may be remarkable for: undervirilization in newborn males and mild virilization and clitoromegaly in newborn female. | Physical examination may be remarkable for: [[undervirilization]] in newborn males and mild [[virilization]] and [[clitoromegaly]] in newborn female. | ||
=== Laboratory Findings === | === Laboratory Findings === | ||
Diagnosis for 3 beta-hydroxysteroid dehydrogenase deficiency is based on delta-5-17-hydroxypregnenolone high levels. <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> Other laboratory findings include: hyponatremia, hyperkalemia. | |||
Other laboratory findings include: hyponatremia, hyperkalemia. | |||
== Treatment == | == Treatment == | ||
=== Medical Therapy === | === 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 === | === Surgery === | ||
The reconstruction surgery for ambiguous genitalia in genetically male patients may be applied. | The reconstruction surgery for [[ambiguous genitalia]] in genetically male patients may be applied. | ||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
Revision as of 20:57, 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, 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
- ↑ 1.0 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.