3 beta-hydroxysteroid dehydrogenase deficiency: Difference between revisions

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Revision as of 19:32, 8 August 2017

For patient information click here

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mehrian Jafarizade, M.D [2]

Synonyms and keywords: Congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency; 3 beta-hydroxysteroid dehydrogenase deficient congenital adrenal hyperplasia

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating 21-hydroxylase deficiency from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

Treatment

Case Studies

Case#1

Related Chapters

Template:WikiDoc Sources

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 __NOTOC__
+'''For patient information click [[{{PAGENAME}} (patient information)|here]]'''
+{{3 beta-hydroxysteroid dehydrogenase deficiency}}
 {{CMG}}; {{AE}} {{MJ}}
-{{SI}}
+{{SK}} Congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency; 3 beta-hydroxysteroid dehydrogenase deficient congenital adrenal hyperplasia
+==[[3 beta-hydroxysteroid dehydrogenase deficiency overview|Overview]]==
+==[[3 beta-hydroxysteroid dehydrogenase deficiency historical perspective|Historical Perspective]]==
+==[[3 beta-hydroxysteroid dehydrogenase deficiency classification|Classification]]==
+==[[3 beta-hydroxysteroid dehydrogenase deficiency pathophysiology|Pathophysiology]]==
+==[[3 beta-hydroxysteroid dehydrogenase deficiency causes|Causes]]==
+==[[3 beta-hydroxysteroid dehydrogenase deficiency differential diagnosis|Differentiating 21-hydroxylase deficiency from other Diseases]]==
+==[[3 beta-hydroxysteroid dehydrogenase deficiency epidemiology and demographics|Epidemiology and Demographics]]==
+==[[3 beta-hydroxysteroid dehydrogenase deficiency risk factors|Risk Factors]]==
+==[[3 beta-hydroxysteroid dehydrogenase deficiency screening|Screening]]==
+==[[3 beta-hydroxysteroid dehydrogenase deficiency natural history, complications and prognosis|Natural History, Complications and Prognosis]]==
-==Overview==
+==Diagnosis==
+[[3 beta-hydroxysteroid dehydrogenase deficiency history and symptoms| History and Symptoms]] | [[3 beta-hydroxysteroid dehydrogenase deficiency physical examination | Physical Examination]] | [[3 beta-hydroxysteroid dehydrogenase deficiency laboratory findings|Laboratory Findings]] | [[3 beta-hydroxysteroid dehydrogenase deficiency electrocardiogram|Electrocardiogram]] |  [[3 beta-hydroxysteroid dehydrogenase deficiency CT|CT]] | [[3 beta-hydroxysteroid dehydrogenase deficiency MRI|MRI]] | [[3 beta-hydroxysteroid dehydrogenase deficiency ultrasound|Ultrasound]] | [[3 beta-hydroxysteroid dehydrogenase deficiency other imaging findings|Other Imaging Findings]] | [[3 beta-hydroxysteroid dehydrogenase deficiency other diagnostic studies|Other Diagnostic Studies]]
-==Historical Perspective==
+==Treatment==
-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 medical therapy|Medical Therapy]] | [[3 beta-hydroxysteroid dehydrogenase deficiency surgery|Surgery]] | [[3 beta-hydroxysteroid dehydrogenase deficiency primary prevention|Primary Prevention]] | [[3 beta-hydroxysteroid dehydrogenase deficiency secondary prevention|Secondary Prevention]] | [[3 beta-hydroxysteroid dehydrogenase deficiency cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[3 beta-hydroxysteroid dehydrogenase deficiency future or investigational therapies|Future or Investigational Therapies]]
-==Classification==
+==Case Studies==
-There are three types of 3 beta-hydroxysteroid dehydrogenase deficiency: the salt-wasting, non-salt-wasting, and non-classic types.
+[[3 beta-hydroxysteroid dehydrogenase deficiency case study one|Case#1]]
-==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 [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.<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 ==
+==Related Chapters==
-=== Symptoms ===
+*[[Ambiguous genitalia]]
-* 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>
+*[[Pseudohermaphroditism]]
-Symptoms of both cortisol and aldosterone deficiency:
+*[[Adrenal insufficiency]]
-:* Feeding difficulties
-:* [[Vomiting]]
-:* [[Volume depletion]]
-:* [[Muscle weakness]]
-* Undervirilization in newborn males.
+{{Endocrine pathology}}
-* 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 ===
+[[Category:Disease]]
-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>
+[[Category:Pediatrics]]
-* Neonates ≥12,600 ng/dL
+[[Category:Endocrinology]]
-* Tanner stage I children ≥5490 ng/dL
+[[Category:Genetic disorders]]
-* Children with premature pubarche ≥9790 ng/dL
-* Adults ≥9620 ng/dL
-Other laboratory findings include:
+[[Category:Intersexuality]]
-* [Hyponatremia]
+[[Category:Mature chapter]]
-* [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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v t e Endocrine pathology: endocrine diseases (E00-35, 240-259)
Thyroid	Hypothyroidism (Iodine deficiency, Cretinism, Congenital hypothyroidism, Goitre, Myxedema) - Hyperthyroidism (Graves disease, Toxic multinodular goitre, Teratoma with thyroid tissue or Struma ovarii) - Thyroiditis (De Quervain's thyroiditis, Hashimoto's thyroiditis, Riedel's thyroiditis) - Euthyroid sick syndrome
Pancreas	Diabetes mellitus (type 1, type 2, coma, angiopathy, ketoacidosis, nephropathy, neuropathy, retinopathy) - Hypoglycemia - Hyperinsulinism - Zollinger-Ellison syndrome - insulin receptor (Rabson-Mendenhall syndrome)
Parathyroid	Hypoparathyroidism (Pseudohypoparathyroidism) - Hyperparathyroidism (Primary, Secondary, Tertiary)
Pituitary	Hyperpituitarism (Acromegaly, Hyperprolactinaemia, SIADH) - Hypopituitarism (Simmonds' disease / Sheehan's syndrome, Kallmann syndrome, Growth hormone deficiency, Diabetes insipidus) - Adiposogenital dystrophy - Empty sella syndrome - Hypophysitis
Adrenal	Cushing's syndrome (Nelson's syndrome, Pseudo-Cushing's syndrome) - CAH (Lipoid, 3β, 11β, 17α, 21α) - Hyperaldosteronism (Conn syndrome, Bartter syndrome) - Adrenal insufficiency (Addison's disease) - Hypoaldosteronism
Gonads	Ovarian dysfunction (Polycystic ovary syndrome, Premature ovarian failure) - Testicular dysfunction (5-alpha-reductase deficiency) - Testosterone biosynthesis (17-beta-hydroxysteroid dehydrogenase deficiency) - General (Hypogonadism, Delayed puberty, Precocious puberty)
Other	Androgen insensitivity syndrome - Autoimmune polyendocrine syndrome - Carcinoid syndrome - Gigantism - Short stature (Laron syndrome, Psychogenic dwarfism) - Multiple endocrine neoplasia (1, 2) - Progeria - Woodhouse-Sakati syndrome