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| {{CMG}}; {{AE}} {{MJ}} | | {{CMG}}; {{AE}} {{MJ}} |
| | {{SK}} |
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| {{SK}}
| | ==[[Amenorrhea overview|Overview]]== |
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| == Overview == | | ==[[Amenorrhea historical perspective|Historical Perspective]]== |
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| == Classification == | | ==[[Amenorrhea classification|Classification]]== |
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| == Differential Diagnosis == | | ==[[Amenorrhea pathophysiology|Pathophysiology]]== |
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| | ==[[Amenorrhea causes|Causes]]== |
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| Diseases that cause [[primary amenorrhea]] in females:<ref name="pmid21147889">{{cite journal |vauthors=Maimoun L, Philibert P, Cammas B, Audran F, Bouchard P, Fenichel P, Cartigny M, Pienkowski C, Polak M, Skordis N, Mazen I, Ocal G, Berberoglu M, Reynaud R, Baumann C, Cabrol S, Simon D, Kayemba-Kay's K, De Kerdanet M, Kurtz F, Leheup B, Heinrichs C, Tenoutasse S, Van Vliet G, Grüters A, Eunice M, Ammini AC, Hafez M, Hochberg Z, Einaudi S, Al Mawlawi H, Nuñez CJ, Servant N, Lumbroso S, Paris F, Sultan C |title=Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients |journal=J. Clin. Endocrinol. Metab. |volume=96 |issue=2 |pages=296–307 |year=2011 |pmid=21147889 |doi=10.1210/jc.2010-1024 |url=}}</ref><ref name="pmid2164530">{{cite journal |vauthors=Moreira AC, Leal AM, Castro M |title=Characterization of adrenocorticotropin secretion in a patient with 17 alpha-hydroxylase deficiency |journal=J. Clin. Endocrinol. Metab. |volume=71 |issue=1 |pages=86–91 |year=1990 |pmid=2164530 |doi=10.1210/jcem-71-1-86 |url=}}</ref><ref name="pmid999330">{{cite journal |vauthors=Heremans GF, Moolenaar AJ, van Gelderen HH |title=Female phenotype in a male child due to 17-alpha-hydroxylase deficiency |journal=Arch. Dis. Child. |volume=51 |issue=9 |pages=721–3 |year=1976 |pmid=999330 |pmc=1546244 |doi= |url=}}</ref><ref name="pmid226795">{{cite journal |vauthors=Biglieri EG |title=Mechanisms establishing the mineralocorticoid hormone patterns in the 17 alpha-hydroxylase deficiency syndrome |journal=J. Steroid Biochem. |volume=11 |issue=1B |pages=653–7 |year=1979 |pmid=226795 |doi= |url=}}</ref><ref name="pmid8929268">{{cite journal |vauthors=Saenger P |title=Turner's syndrome |journal=N. Engl. J. Med. |volume=335 |issue=23 |pages=1749–54 |year=1996 |pmid=8929268 |doi=10.1056/NEJM199612053352307 |url=}}</ref><ref name="pmid25813279">{{cite journal |vauthors=Bastian C, Muller JB, Lortat-Jacob S, Nihoul-Fékété C, Bignon-Topalovic J, McElreavey K, Bashamboo A, Brauner R |title=Genetic mutations and somatic anomalies in association with 46,XY gonadal dysgenesis |journal=Fertil. Steril. |volume=103 |issue=5 |pages=1297–304 |year=2015 |pmid=25813279 |doi=10.1016/j.fertnstert.2015.01.043 |url=}}</ref><ref name="pmid4432067">{{cite journal |vauthors=Imperato-McGinley J, Guerrero L, Gautier T, Peterson RE |title=Steroid 5alpha-reductase deficiency in man: an inherited form of male pseudohermaphroditism |journal=Science |volume=186 |issue=4170 |pages=1213–5 |year=1974 |pmid=4432067 |doi= |url=}}</ref><ref name="pmid11344932">{{cite journal |vauthors=Schnitzer JJ, Donahoe PK |title=Surgical treatment of congenital adrenal hyperplasia |journal=Endocrinol. Metab. Clin. North Am. |volume=30 |issue=1 |pages=137–54 |year=2001 |pmid=11344932 |doi= |url=}}</ref>
| | ==[[Amenorrhea differential diagnosis|Differentiating Xyz from other Diseases]]== |
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| {| class="wikitable"
| | ==[[Amenorrhea epidemiology and demographics|Epidemiology and Demographics]]== |
| |-
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| ! rowspan="2" | Disease name
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| ! rowspan="2" | Cause
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| ! colspan="7" | Differentiating
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| |-
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| !Findings
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| ![[Uterus]]
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| ![[Breast]] development
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| ![[Testosterone]]
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| ![[LH]]
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| ![[FSH]]
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| ![[Karyotyping]]
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| |- | |
| !3-beta-hydroxysteroid dehydrogenase type 2 deficiency
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| * HSD3B2 [[gene]] [[mutation]]
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| * [[Undervirilization]] in 46,XY individuals due to a block in [[testosterone]] biosynthesis
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| * Mild [[virilization]] in 46,XX individuals
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| | align="center" style="padding: 5px 5px; background: " |
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| Yes in [[female]]
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| | align="center" style="padding: 5px 5px; background: " |
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| Yes in [[female]]
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| | align="center" style="padding: 5px 5px; background: " |
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| Low
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| | align="center" style="padding: 5px 5px; background: " |
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| Normal
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| | align="center" style="padding: 5px 5px; background: " |
| |
| Normal
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| | align="center" style="padding: 5px 5px; background: " |
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| [[XY]] and [[XX]]
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| |-
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| ![[17-alpha-hydroxylase deficiency]]
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| * [[CYP17A1|CYP17A1 gene mutation]]
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| * Female [[external genitalia]]
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| * [[Primary amenorrhea]]
| | ==[[Amenorrhea risk factors|Risk Factors]]== |
| * [[Hypertension]]
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| * Absence of secondary [[sexual characteristics]]
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| * Minimal [[body hair]]
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| | align="center" style="padding: 5px 5px; background: " |
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| No
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| | align="center" style="padding: 5px 5px; background: " |
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| No
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| | align="center" style="padding: 5px 5px; background: " |
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| Low
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| | align="center" style="padding: 5px 5px; background: " |
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| Normal
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| | align="center" style="padding: 5px 5px; background: " |
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| Normal
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| | align="center" style="padding: 5px 5px; background: " |
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| [[XY]]
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| |-
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| ![[Gonadal dysgenesis]]
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| * Mutations:
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| ** [[SRY]]
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| ** FOG2/ZFPM2
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| ** WNT1
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| | | |
| * Female [[external genitalia]]
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| * Intact [[Mullerian ducts]]
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| * [[Streak gonads]]
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| * [[karyotyping ]]
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| | align="center" style="padding: 5px 5px; background: " |
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| Yes
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| | align="center" style="padding: 5px 5px; background: " |
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| Yes
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| | align="center" style="padding: 5px 5px; background: " |
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| Low
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| | align="center" style="padding: 5px 5px; background: " |
| |
| High
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| | align="center" style="padding: 5px 5px; background: " |
| |
| High
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| | align="center" style="padding: 5px 5px; background: " |
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| [[XY]]
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| |-
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| ![[Testicular regression syndrome]]
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| * Loss of [[testicular]] function and tissue early in development
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| * Female phenotype with atrophic [[Mullerian ducts]]
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| | align="center" style="padding: 5px 5px; background: " |
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| No
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| | align="center" style="padding: 5px 5px; background: " |
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| No
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| | align="center" style="padding: 5px 5px; background: " |
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| Low
| |
| | align="center" style="padding: 5px 5px; background: " |
| |
| High
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| | align="center" style="padding: 5px 5px; background: " |
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| High
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| | align="center" style="padding: 5px 5px; background: " |
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| [[XY]]
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| |-
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| ![[LH receptor|LH receptor defects]]
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| * [[LH receptor]] [[gene]] [[mutation]] on [[chromosome 2]]
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| * Female [[external genitalia]]
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| * Lack a [[uterus]] and [[fallopian tubes]]
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| * [[Epididymis]] and [[vas deferens]] may be present
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| * Laboratory:
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| ** Unresponsiveness to [[hCG]]
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| ** Normal levels of [[testosterone]] precursors (produced in the [[adrenal glands]])
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| | align="center" style="padding: 5px 5px; background: " |
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| No
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| | align="center" style="padding: 5px 5px; background: " |
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| No
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| | align="center" style="padding: 5px 5px; background: " |
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| Low
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| | align="center" style="padding: 5px 5px; background: " |
| |
| High
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| | align="center" style="padding: 5px 5px; background: " |
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| High
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| | align="center" style="padding: 5px 5px; background: " |
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| [[XY]]
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| |-
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| ![[5-alpha-reductase deficiency|5-alpha-reductase type 2 deficiency]]
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| * [[Autosomal recessive]]
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| * Female [[external genitalia or ambiguous]]
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| * Bilateral testes and normal [[testosterone]] formation
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| * Impaired external [[virilization]] during [[embryogenesis]]
| | ==[[Amenorrhea screening|Screening]]== |
| * Defective conversion of [[testosterone]] to [[DHT]]
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| * [[Testosterone]] to [[DHT]] ratio is >10:1
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| | align="center" style="padding: 5px 5px; background: " |
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| No
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| | align="center" style="padding: 5px 5px; background: " |
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| No
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| | align="center" style="padding: 5px 5px; background: " |
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| Normal male range
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| | align="center" style="padding: 5px 5px; background: " |
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| High to normal
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| | align="center" style="padding: 5px 5px; background: " |
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| High to normal
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| | align="center" style="padding: 5px 5px; background: " |
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| [[XY]]
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| |-
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| ![[Androgen insensitivity syndrome]]
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| |
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| * [[Androgen receptor]] defect
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| |
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| * Female [[external genitalia]]
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| * Resistant to [[testosterone]]
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| | align="center" style="padding: 5px 5px; background: " |
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| No
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| | align="center" style="padding: 5px 5px; background: " |
| |
| Yes
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| | align="center" style="padding: 5px 5px; background: " |
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| Normal male range
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| | align="center" style="padding: 5px 5px; background: " |
| |
| Normal
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| | align="center" style="padding: 5px 5px; background: " |
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| Normal
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| | align="center" style="padding: 5px 5px; background: " |
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| [[XY]]
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| |-
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| ![[Mullerian agenesis]]
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| * Mutations in ''[[WNT4]]''
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| |
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| * Normal female [[genitalia]]
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| * Normal [[breast]] development
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| | align="center" style="padding: 5px 5px; background: " |
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| No
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| | align="center" style="padding: 5px 5px; background: " |
| |
| Yes
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| | align="center" style="padding: 5px 5px; background: " |
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| Normal [[female]] range
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| | align="center" style="padding: 5px 5px; background: " |
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| Normal
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| | align="center" style="padding: 5px 5px; background: " |
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| Normal
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| | align="center" style="padding: 5px 5px; background: " |
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| [[XX]]
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| |-
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| ![[Ovarian insufficiency|Primary ovarian insufficiency]]
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| |
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| * [[Genetic defects]] such as [[turner syndrome]], [[fragile X syndrome]], and other chromosomal defects
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| | | |
| * Normal [[female genitalia]]
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| | align="center" style="padding: 5px 5px; background: " |
| |
| Yes
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| | align="center" style="padding: 5px 5px; background: " |
| |
| Yes
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| | align="center" style="padding: 5px 5px; background: " |
| |
| Normal female range
| |
| | align="center" style="padding: 5px 5px; background: " |
| |
| High
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| | align="center" style="padding: 5px 5px; background: " |
| |
| High
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| | align="center" style="padding: 5px 5px; background: " |
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| [[XX]]
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| |-
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| ![[Hypogonadotropic hypogonadism]]
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| * Functional, sellar masses
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| * Normal [[female genitalia]],
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|
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| * Delayed [[puberty]]
| | ==[[Amenorrhea natural history, complications and prognosis|Natural History, Complications and Prognosis]]== |
| | align="center" style="padding: 5px 5px; background: " |
| | |
| Yes
| | ==Diagnosis== |
| | align="center" style="padding: 5px 5px; background: " |
| | [[Amenorrhea history and symptoms|History and Symptoms]] | [[Amenorrhea physical examination|Physical Examination]] | [[Amenorrhea electrocardiogram|Electrocardiogram]] | [[Amenorrhea laboratory findings|Laboratory Findings]] | [[Amenorrhea x ray|X-Ray Findings]] | [[Amenorrhea echocardiography and ultrasound|Echocardiography and Ultrasound]] | [[Amenorrhea CT scan|CT-Scan Findings]] | [[Amenorrhea MRI|MRI Findings]] | [[Amenorrhea other diagnostic studies|Other Diagnostic Studies]] | [[Amenorrhea other imaging findings|Other Imaging Findings]] |
| No
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| | align="center" style="padding: 5px 5px; background: " |
| | ==Treatment== |
| Normal female range
| | [[Amenorrhea medical therapy|Medical Therapy]] | [[Amenorrhea surgery|Surgery]] | [[Amenorrhea primary prevention|Primary Prevention]] | [[Amenorrhea secondary prevention|Secondary Prevention]] | [[Amenorrhea cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Amenorrhea future or investigational therapies|Future or Investigational Therapies]] |
| | align="center" style="padding: 5px 5px; background: " | | | |
| Low
| | ==Case Studies== |
| | align="center" style="padding: 5px 5px; background: " | | | [[Amenorrhea case study one|Case #1]] |
| Normal
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| | align="center" style="padding: 5px 5px; background: " | | |
| [[XX]] | |
| |- | |
| ! align="center" style="padding: 5px 5px; background: " |
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| [[Turner syndrome]] | |
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| * Chromosomal
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| | | |
| * Female [[external genitalia]]
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| | align="center" style="padding: 5px 5px; background: " | | |
| Yes
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| | align="center" style="padding: 5px 5px; background: " |
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| Yes
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| | align="center" style="padding: 5px 5px; background: " | | |
| Normal [[female]] range
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| | align="center" style="padding: 5px 5px; background: " | | |
| High
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| | align="center" style="padding: 5px 5px; background: " |
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| High
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| | align="center" style="padding: 5px 5px; background: " |
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| [[Turner syndrome|45 XO]] | |
| |}
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