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| __NOTOC__
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| {{CMG}}; {{AE}} {{MJ}} | | <br><br> |
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| | {{familytree | | | | | |A01| | | | | | |A01=Adrenal disorders}} |
| | {{familytree | | |,|-|-|v|-|^|-|v|-|-|v|-|-|-|.| | | | |}} |
| | {{familytree | | C01 | | C02 | | C03 | |C01=Cortical disorders|C02=Medullary disorders|C03=Incidentaloma}} |
| | {{familytree | | |!| | | |!| | | |!| | |}} |
| | {{familytree |boxstyle=text-align: left; | | D01 | | C02 | | C03 | | |D01= <br> •[[Lipoid congenital adrenal hyperplasia]]|C02= •[[Primary hypertaldosteronism]] <br> •[[Hypoaldosteronsim]]|C03=[[Cushing's syndrome]]|C04=[[Addison's disease]]|C05= •[[Incidentiloma]] <br> •[[pheocromocytoma]]}} |
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| | <br><br><br> |
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| {{SI}}
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| ==Overview==
| | • [[21-hydroxylase deficiency]]<br> •[[11β-hydroxylase deficiency]] <br> •[[17 alpha-hydroxylase deficiency]] <br> •[[3 beta-hydroxysteroid dehydrogenase deficiency]] <br> •[[Cytochrome P450-oxidoreductase (POR) deficiency (ORD)]] |
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| ==Historical Perspective==
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| 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>
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| ==Classification==
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| There are three types of 3 beta-hydroxysteroid dehydrogenase deficiency: the salt-wasting, non-salt-wasting, and non-classic types.
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| ==Pathophysiology==
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| *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>
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| ==Causes==
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| * 3 beta-hydroxysteroid dehydrogenase deficiency is caused by a mutation in the HSD3B2 gene.
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| ==Differentiating [disease name] from other Diseases==
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| * 3 beta-hydroxysteroid dehydrogenase deficiency must be differentiated from other diseases that cause ambiguous genitalia such as:
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| * [[21-hydroxylase deficiency]]
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| * [[11-β hydroxylase deficiency]]
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| * [[17-α hydroxylase deficiency]]
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| * Gestational [[hyperandrogenism]]
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| * [[P450-oxidoreductase deficiency]]
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|
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| ==Epidemiology and Demographics==
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| * 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>
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| ==Risk Factors==
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| *Common risk factors in the development of 3 beta-hydroxysteroid dehydrogenase deficiency is family history of this disease.
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| == Diagnosis ==
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| === Symptoms ===
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| * 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>
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| Symptoms of both cortisol and aldosterone deficiency:
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| :* Feeding difficulties
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| :* [[Vomiting]]
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| :* [[Volume depletion]]
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| :* [[Muscle weakness]]
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| * Undervirilization in newborn males.
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| * Mild virilization and clitoromegaly in newborn female because of peripheral conversion of DHEA sulfate (DHEAS) to testosterone.
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|
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| === Physical Examination ===
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| *Physical examination may be remarkable for:
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| Undervirilization in newborn males and mild virilization and clitoromegaly in newborn female.
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| === Laboratory Findings ===
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| 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>
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| * Neonates ≥12,600 ng/dL
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| * Tanner stage I children ≥5490 ng/dL
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| * Children with premature pubarche ≥9790 ng/dL
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| * Adults ≥9620 ng/dL
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| Other laboratory findings include:
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| * [Hyponatremia]
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| * [Hyperkalemia]
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| == Treatment ==
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| === Medical Therapy ===
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| *The mainstay of therapy for 3 beta-hydroxysteroid dehydrogenase deficiency is [[hydrocortisone]] and [[fludrocortisone acetate]].
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| * Gender-appropriate replacement of androgens or estrogens with progestins is necessary at the puberty time.
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| === Surgery ===
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| The reconstruction surgery for ambiguous genitalia in genetically male patients may be applied.
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| ==References==
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| {{Reflist|2}}
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