Amenorrhea differential diagnosis: Difference between revisions

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Revision as of 15:34, 25 September 2017

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

Overview

As amenorrhea manifests in a variety of clinical forms, differentiation must be established in accordance with the particular subtype. Primary amenorrhea must be differentiated from other diseases that cause lack of menstrual cycle, such as Mullerian agenesis, 3-beta-hydroxysteroid dehydrogenase type 2 deficiency, androgen insensitivity syndrome, Kallmann syndrome, Turner syndrome, and 17-alpha-hydroxylase deficiency. In contrast, secondary amenorrhea must be differentiated from other diseases that cause menstrual cycle arrest, such as primary ovarian insufficiency, hypothyroidism, hyperprolactinemia, polycystic ovary syndrome, and Asherman's syndrome.

Differentiating Diseases with Amenorrhea from each other

As amenorrhea manifests in a variety of clinical forms, differentiation must be established in accordance with the particular subtype. Primary amenorrhea must be differentiated from other diseases that cause lack of menstrual cycle, such as Mullerian agenesis, 3-beta-hydroxysteroid dehydrogenase type 2 deficiency, androgen insensitivity syndrome, Kallmann syndrome, Turner syndrome, and 17-alpha-hydroxylase deficiency. In contrast, secondary amenorrhea must be differentiated from other diseases that cause menstrual cycle arrest, such as primary ovarian insufficiency, hypothyroidism, hyperprolactinemia, polycystic ovary syndrome, and Asherman's syndrome.

Group	Diseases	Laboratory Findings										Physical Examination				Other Findings
Group	Diseases	Estrogen	Progesterone	GnRH	LH	FSH	Androgen	TSH	T4	PRL	Karyotype	Externl genitalia	Breast development	Pubic hair	Uterus	Other Findings
Primary amenorrhea	Mullerian agenesis^[1]	Nl	Nl	Nl	Nl	Nl	Nl	Nl	Nl	Nl	46 XX	Nl	+	+	-	Urinary tract defects Fused vertebrae
	3-beta-hydroxysteroid dehydrogenase type 2 deficiency	Nl	Nl	Nl	Nl	Nl	↓	Nl	Nl	Nl	46 XX	Clitoromegaly	-/+	+	+	Hyponatremia Hypokalemia
	Androgen insensitivity syndrome^[2]	Nl	Nl	↓	↑	Nl	↑↑	Nl	Nl	Nl	46 XY	Nl	+	+	-	Undescended testis
	Kallmann syndrome^[3]	↓	↓	↓↓	↓	↓	↓	Nl	Nl	Nl	46 XX	Nl	-	-	+	Anosmia/Hyposmia
	Turner syndrome^[4]	↓↓	↓	↑	↑	↑	Nl	Nl	Nl	Nl	45 XO	Nl	+/-	+	+	Webbed neck Cardiac defects
	17-alpha-hydroxylase deficiency	↓	Nl	↑	↑	↑	↓	Nl	Nl	Nl	46 XY	Infantilism	-	-	-	Hypertension
Secondary amenorrhea	Primary ovarian insufficiency^[5]	↓↓	↓	↑	↑	↑	Nl	Nl	Nl	Nl	46 XX	Nl	+	+	+	Osteoporosis Ischemic heart disease
	Hypothyroidism^[6]	Nl	Nl	Nl	Nl	Nl	↑	↑↑	↓↓	Nl	46 XX	Nl	+	+	+	Fatigue Decreased deep tendon reflexes (DTR)
	Hyperprolactinemia^[7]	↓	↓	↓	↓	↓	↓	Nl	Nl	↑	46 XX	Nl	+	+	+	Galactorrhea Headaches Visual disturbances
	Polycystic ovary syndrome^[8]	↓↓	↓↓	↑	↑	↑	↑	Nl	Nl	Nl	46 XX	Nl	+	+	+	Hirsutism Insulin resistance
	Asherman's syndrome^[9]	Nl	Nl	Nl	Nl	Nl	Nl	Nl	Nl	Nl	46 XX	Nl	+	+	+	History of uterus surgery Uterus scarring

References

↑ Folch M, Pigem I, Konje JC (2000). "Müllerian agenesis: etiology, diagnosis, and management". Obstet Gynecol Surv. 55 (10): 644–9. PMID 11023205.
↑ "Current evaluation of amenorrhea". Fertil. Steril. 82 (1): 266–72. 2004. doi:10.1016/j.fertnstert.2004.02.098. PMID 15237040.
↑ Albanese A, Stanhope R (1995). "Investigation of delayed puberty". Clin. Endocrinol. (Oxf). 43 (1): 105–10. PMID 7641400.
↑ Sybert VP, McCauley E (2004). "Turner's syndrome". N. Engl. J. Med. 351 (12): 1227–38. doi:10.1056/NEJMra030360. PMID 15371580.
↑ Nelson LM (2009). "Clinical practice. Primary ovarian insufficiency". N. Engl. J. Med. 360 (6): 606–14. doi:10.1056/NEJMcp0808697. PMC 2762081. PMID 19196677.
↑ Kalro BN (2003). "Impaired fertility caused by endocrine dysfunction in women". Endocrinol. Metab. Clin. North Am. 32 (3): 573–92. PMID 14575026.
↑ Pickett CA (2003). "Diagnosis and management of pituitary tumors: recent advances". Prim. Care. 30 (4): 765–89. PMID 15024895.
↑ "ACOG practice bulletin clinical management guidelines for obstetrician-gynecologists. Number 40, November 2002". Obstet Gynecol. 100 (5 Pt 1): 1045–50. 2002. PMID 12434783.
↑ Fritz, Marc (2011). Clinical gynecologic endocrinology and infertility. Philadelphia: Wolters Kluwer Health/Lippincott Williams & Wilkins. ISBN 978-0781779685.

Template:WH Template:WS

[pmid11023205-1] Folch M, Pigem I, Konje JC (2000). "Müllerian agenesis: etiology, diagnosis, and management". Obstet Gynecol Surv. 55 (10): 644–9. PMID 11023205.

[pmid15237040-2] "Current evaluation of amenorrhea". Fertil. Steril. 82 (1): 266–72. 2004. doi:10.1016/j.fertnstert.2004.02.098. PMID 15237040.

[pmid7641400-3] Albanese A, Stanhope R (1995). "Investigation of delayed puberty". Clin. Endocrinol. (Oxf). 43 (1): 105–10. PMID 7641400.

[pmid15371580-4] Sybert VP, McCauley E (2004). "Turner's syndrome". N. Engl. J. Med. 351 (12): 1227–38. doi:10.1056/NEJMra030360. PMID 15371580.

[pmid19196677-5] Nelson LM (2009). "Clinical practice. Primary ovarian insufficiency". N. Engl. J. Med. 360 (6): 606–14. doi:10.1056/NEJMcp0808697. PMC 2762081. PMID 19196677.

[pmid14575026-6] Kalro BN (2003). "Impaired fertility caused by endocrine dysfunction in women". Endocrinol. Metab. Clin. North Am. 32 (3): 573–92. PMID 14575026.

[pmid15024895-7] Pickett CA (2003). "Diagnosis and management of pituitary tumors: recent advances". Prim. Care. 30 (4): 765–89. PMID 15024895.

[pmid12434783-8] "ACOG practice bulletin clinical management guidelines for obstetrician-gynecologists. Number 40, November 2002". Obstet Gynecol. 100 (5 Pt 1): 1045–50. 2002. PMID 12434783.

[9] Fritz, Marc (2011). Clinical gynecologic endocrinology and infertility. Philadelphia: Wolters Kluwer Health/Lippincott Williams & Wilkins. ISBN 978-0781779685.

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@@ Line 1: / Line 1: @@
 __NOTOC__
 {{Amenorrhea}}
 {{CMG}}; {{AE}}
 == Overview ==
+As amenorrhea manifests in a variety of clinical forms, differentiation must be established in accordance with the particular subtype. Primary amenorrhea must be differentiated from other diseases that cause lack of [[menstrual cycle]], such as [[Mullerian agenesis]], [[Congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency|3-beta-hydroxysteroid dehydrogenase type 2 deficiency]], [[androgen insensitivity syndrome]], [[Kallmann syndrome]], [[Turner syndrome]], and [[17-alpha-hydroxylase deficiency]]. In contrast, secondary amenorrhea must be differentiated from other diseases that cause [[menstrual cycle]] arrest, such as [[Primary ovarian failure|primary ovarian insufficiency]], [[hypothyroidism]], [[hyperprolactinemia]], [[polycystic ovary syndrome]], and [[Asherman's syndrome]].
 == Differentiating Diseases with Amenorrhea from each other==
-As amenorrhea manifests in a variety of clinical forms, differentiation must be established in accordance with the particular subtype. Primary amenorrhea must be differentiated from other diseases that cause lack of [[menstrual cycle]], such as [differential dx1] and [differential dx2]. In contrast, secondary amenorrhea must be differentiated from other diseases that cause [[menstrual cycle]] arrest, such as [differential dx3] and [differential dx4].
+As amenorrhea manifests in a variety of clinical forms, differentiation must be established in accordance with the particular subtype. Primary amenorrhea must be differentiated from other diseases that cause lack of [[menstrual cycle]], such as [[Mullerian agenesis]], [[Congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency|3-beta-hydroxysteroid dehydrogenase type 2 deficiency]], [[androgen insensitivity syndrome]], [[Kallmann syndrome]], [[Turner syndrome]], and [[17-alpha-hydroxylase deficiency]]. In contrast, secondary amenorrhea must be differentiated from other diseases that cause [[menstrual cycle]] arrest, such as [[Primary ovarian failure|primary ovarian insufficiency]], [[hypothyroidism]], [[hyperprolactinemia]], [[polycystic ovary syndrome]], and [[Asherman's syndrome]].
 {|
@@ Line 26: / Line 27: @@
 !PRL
 !Karyotype
-!Genitalia
+!Externl genitalia
 !Breast development
 !Pubic hair
 !Uterus
 |-
-|'''Primary amenorrhea'''
+| rowspan="6" |'''Primary amenorrhea'''
-| style="background: #DCDCDC; padding: 5px; text-align: center;" |'''Mullerian agenesis<ref name="pmid11023205">{{cite journal |vauthors=Folch M, Pigem I, Konje JC |title=Müllerian agenesis: etiology, diagnosis, and management |journal=Obstet Gynecol Surv |volume=55 |issue=10 |pages=644–9 |year=2000 |pmid=11023205 |doi= |url=}}</ref>'''
+| style="background: #DCDCDC; padding: 5px; text-align: center;" |'''[[Mullerian agenesis]]<ref name="pmid11023205">{{cite journal |vauthors=Folch M, Pigem I, Konje JC |title=Müllerian agenesis: etiology, diagnosis, and management |journal=Obstet Gynecol Surv |volume=55 |issue=10 |pages=644–9 |year=2000 |pmid=11023205 |doi= |url=}}</ref>'''
-| style="background: #F5F5F5; padding: 5px;" |
+| style="background: #F5F5F5; padding: 5px;" |Nl
-|
+| style="background: #F5F5F5; padding: 5px;" |Nl
-|
+| style="background: #F5F5F5; padding: 5px;" |Nl
-| style="background: #F5F5F5; padding: 5px;" |
+| style="background: #F5F5F5; padding: 5px;" |Nl
-| style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki>
+| style="background: #F5F5F5; padding: 5px;" |Nl
-| style="background: #F5F5F5; padding: 5px;" |
+| style="background: #F5F5F5; padding: 5px;" |Nl
-| style="background: #F5F5F5; padding: 5px;" |
+| style="background: #F5F5F5; padding: 5px;" |Nl
-| style="background: #F5F5F5; padding: 5px;" |
+| style="background: #F5F5F5; padding: 5px;" |Nl
-| style="background: #F5F5F5; padding: 5px;" |
+| style="background: #F5F5F5; padding: 5px;" |Nl
-| style="background: #F5F5F5; padding: 5px;" |
+| style="background: #F5F5F5; padding: 5px;" |46 [[XX]]
+| style="background: #F5F5F5; padding: 5px;" |Nl
+| style="background: #F5F5F5; padding: 5px;" | +
+| style="background: #F5F5F5; padding: 5px;" | +
+| style="background: #F5F5F5; padding: 5px;" | -
 | style="background: #F5F5F5; padding: 5px;" |
+* [[Urinary tract malformation|Urinary tract defects]]
+* Fused [[vertebrae]]
+|-
+! style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency|3-beta-hydroxysteroid dehydrogenase type 2 deficiency]]
+| style="background: #F5F5F5; padding: 5px;" |Nl
+| style="background: #F5F5F5; padding: 5px;" |Nl
+| style="background: #F5F5F5; padding: 5px;" |Nl
+| style="background: #F5F5F5; padding: 5px;" |Nl
+| style="background: #F5F5F5; padding: 5px;" |Nl
+| style="background: #F5F5F5; padding: 5px;" |↓
+| style="background: #F5F5F5; padding: 5px;" |Nl
+| style="background: #F5F5F5; padding: 5px;" |Nl
+| style="background: #F5F5F5; padding: 5px;" |Nl
+| style="background: #F5F5F5; padding: 5px;" |46 [[XX]]
+| style="background: #F5F5F5; padding: 5px;" |[[Clitoromegaly]]
+| style="background: #F5F5F5; padding: 5px;" | -/+
+| style="background: #F5F5F5; padding: 5px;" | +
+| style="background: #F5F5F5; padding: 5px;" | +
 | style="background: #F5F5F5; padding: 5px;" |
+* [[Hyponatremia]]
+* [[Hypokalemia]]
+|-
+| style="background: #DCDCDC; padding: 5px; text-align: center;" |'''[[Androgen insensitivity syndrome]]<ref name="pmid15237040">{{cite journal |vauthors= |title=Current evaluation of amenorrhea |journal=Fertil. Steril. |volume=82 |issue=1 |pages=266–72 |year=2004 |pmid=15237040 |doi=10.1016/j.fertnstert.2004.02.098 |url=}}</ref>'''
+| style="background: #F5F5F5; padding: 5px;" |Nl
+| style="background: #F5F5F5; padding: 5px;" |Nl
+| style="background: #F5F5F5; padding: 5px;" |↓
+| style="background: #F5F5F5; padding: 5px;" |'''↑'''
+| style="background: #F5F5F5; padding: 5px;" |Nl
+| style="background: #F5F5F5; padding: 5px;" |'''↑↑'''
+| style="background: #F5F5F5; padding: 5px;" |Nl
+| style="background: #F5F5F5; padding: 5px;" |Nl
+| style="background: #F5F5F5; padding: 5px;" |Nl
+| style="background: #F5F5F5; padding: 5px;" |46 [[XY]]
+| style="background: #F5F5F5; padding: 5px;" |Nl
+| style="background: #F5F5F5; padding: 5px;" | +
+| style="background: #F5F5F5; padding: 5px;" | +
+| style="background: #F5F5F5; padding: 5px;" | -
 | style="background: #F5F5F5; padding: 5px;" |
+* [[Undescended testes|Undescended testis]]
+|-
+| style="background: #DCDCDC; padding: 5px; text-align: center;" |'''[[Kallmann syndrome]]<ref name="pmid7641400">{{cite journal |vauthors=Albanese A, Stanhope R |title=Investigation of delayed puberty |journal=Clin. Endocrinol. (Oxf) |volume=43 |issue=1 |pages=105–10 |year=1995 |pmid=7641400 |doi= |url=}}</ref>'''
+| style="background: #F5F5F5; padding: 5px;" |↓
+| style="background: #F5F5F5; padding: 5px;" |↓
+| style="background: #F5F5F5; padding: 5px;" |↓↓
+| style="background: #F5F5F5; padding: 5px;" |↓
+| style="background: #F5F5F5; padding: 5px;" |↓
+| style="background: #F5F5F5; padding: 5px;" |↓
+| style="background: #F5F5F5; padding: 5px;" |Nl
+| style="background: #F5F5F5; padding: 5px;" |Nl
+| style="background: #F5F5F5; padding: 5px;" |Nl
+| style="background: #F5F5F5; padding: 5px;" |46 [[XX]]
+| style="background: #F5F5F5; padding: 5px;" |Nl
+| style="background: #F5F5F5; padding: 5px;" | -
+| style="background: #F5F5F5; padding: 5px;" | -
+| style="background: #F5F5F5; padding: 5px;" | +
 | style="background: #F5F5F5; padding: 5px;" |
+* [[Anosmia]]/[[Hyposmia]]
+|-
+| style="background: #DCDCDC; padding: 5px; text-align: center;" |'''[[Turner syndrome]]<ref name="pmid15371580">{{cite journal |vauthors=Sybert VP, McCauley E |title=Turner's syndrome |journal=N. Engl. J. Med. |volume=351 |issue=12 |pages=1227–38 |year=2004 |pmid=15371580 |doi=10.1056/NEJMra030360 |url=}}</ref>'''
+| style="background: #F5F5F5; padding: 5px;" |↓↓
+| style="background: #F5F5F5; padding: 5px;" |↓
+| style="background: #F5F5F5; padding: 5px;" |'''↑'''
+| style="background: #F5F5F5; padding: 5px;" |'''↑'''
+| style="background: #F5F5F5; padding: 5px;" |'''↑'''
+| style="background: #F5F5F5; padding: 5px;" |Nl
+| style="background: #F5F5F5; padding: 5px;" |Nl
+| style="background: #F5F5F5; padding: 5px;" |Nl
+| style="background: #F5F5F5; padding: 5px;" |Nl
+| style="background: #F5F5F5; padding: 5px;" |[[Turner syndrome|45 XO]]
+| style="background: #F5F5F5; padding: 5px;" |Nl
+| style="background: #F5F5F5; padding: 5px;" | +/-
+| style="background: #F5F5F5; padding: 5px;" | +
+| style="background: #F5F5F5; padding: 5px;" | +
 | style="background: #F5F5F5; padding: 5px;" |
+* [[Webbed neck]]
+* Cardiac defects
 |-
-|
+| style="background: #DCDCDC; padding: 5px; text-align: center;" |'''[[17-alpha-hydroxylase deficiency]]'''
-! style="background: #DCDCDC; padding: 5px; text-align: center;" |3-beta-hydroxysteroid dehydrogenase type 2 deficiency
+| style="background: #F5F5F5; padding: 5px;" |↓
+| style="background: #F5F5F5; padding: 5px;" |Nl
+| style="background: #F5F5F5; padding: 5px;" |'''↑'''
+| style="background: #F5F5F5; padding: 5px;" |'''↑'''
 | style="background: #F5F5F5; padding: 5px;" |'''↑'''
-|
+| style="background: #F5F5F5; padding: 5px;" |↓
-|
+| style="background: #F5F5F5; padding: 5px;" |Nl
-| style="background: #F5F5F5; padding: 5px;" |
+| style="background: #F5F5F5; padding: 5px;" |Nl
-| style="background: #F5F5F5; padding: 5px;" |
+| style="background: #F5F5F5; padding: 5px;" |Nl
+| style="background: #F5F5F5; padding: 5px;" |46 [[XY]]
+| style="background: #F5F5F5; padding: 5px;" |[[Infantilism]]
+| style="background: #F5F5F5; padding: 5px;" | -
+| style="background: #F5F5F5; padding: 5px;" | -
 | style="background: #F5F5F5; padding: 5px;" | -
 | style="background: #F5F5F5; padding: 5px;" |
+* [[Hypertension]]
+|-
+| rowspan="5" |'''Secondary amenorrhea'''
+| style="background: #DCDCDC; padding: 5px; text-align: center;" |'''[[Primary ovarian failure|Primary ovarian insufficiency]]<ref name="pmid19196677">{{cite journal |vauthors=Nelson LM |title=Clinical practice. Primary ovarian insufficiency |journal=N. Engl. J. Med. |volume=360 |issue=6 |pages=606–14 |year=2009 |pmid=19196677 |pmc=2762081 |doi=10.1056/NEJMcp0808697 |url=}}</ref>'''
+| style="background: #F5F5F5; padding: 5px;" |↓↓
+| style="background: #F5F5F5; padding: 5px;" |↓
+| style="background: #F5F5F5; padding: 5px;" |'''↑'''
+| style="background: #F5F5F5; padding: 5px;" |'''↑'''
+| style="background: #F5F5F5; padding: 5px;" |'''↑'''
+| style="background: #F5F5F5; padding: 5px;" |Nl
+| style="background: #F5F5F5; padding: 5px;" |Nl
+| style="background: #F5F5F5; padding: 5px;" |Nl
+| style="background: #F5F5F5; padding: 5px;" |Nl
+| style="background: #F5F5F5; padding: 5px;" |46 [[XX]]
+| style="background: #F5F5F5; padding: 5px;" |Nl
+| style="background: #F5F5F5; padding: 5px;" | +
+| style="background: #F5F5F5; padding: 5px;" | +
+| style="background: #F5F5F5; padding: 5px;" | +
 | style="background: #F5F5F5; padding: 5px;" |
+* [[Osteoporosis]]
+* [[Ischemic heart disease]]
+|-
+| style="background: #DCDCDC; padding: 5px; text-align: center;" |'''[[Hypothyroidism]]<ref name="pmid14575026">{{cite journal |vauthors=Kalro BN |title=Impaired fertility caused by endocrine dysfunction in women |journal=Endocrinol. Metab. Clin. North Am. |volume=32 |issue=3 |pages=573–92 |year=2003 |pmid=14575026 |doi= |url=}}</ref>'''
+| style="background: #F5F5F5; padding: 5px;" |Nl
+| style="background: #F5F5F5; padding: 5px;" |Nl
+| style="background: #F5F5F5; padding: 5px;" |Nl
+| style="background: #F5F5F5; padding: 5px;" |Nl
+| style="background: #F5F5F5; padding: 5px;" |Nl
+| style="background: #F5F5F5; padding: 5px;" |'''↑'''
+| style="background: #F5F5F5; padding: 5px;" |'''↑↑'''
+| style="background: #F5F5F5; padding: 5px;" |↓↓
+| style="background: #F5F5F5; padding: 5px;" |Nl
+| style="background: #F5F5F5; padding: 5px;" |46 [[XX]]
+| style="background: #F5F5F5; padding: 5px;" |Nl
+| style="background: #F5F5F5; padding: 5px;" | +
+| style="background: #F5F5F5; padding: 5px;" | +
+| style="background: #F5F5F5; padding: 5px;" | +
 | style="background: #F5F5F5; padding: 5px;" |
-| style="background: #F5F5F5; padding: 5px;" |
+* [[Fatigue]]
-| style="background: #F5F5F5; padding: 5px;" |
+* Decreased [[Deep tendon reflex|deep tendon reflexes (DTR)]]
-| style="background: #F5F5F5; padding: 5px;" |
-| style="background: #F5F5F5; padding: 5px;" |
-| style="background: #F5F5F5; padding: 5px;" |
-| style="background: #F5F5F5; padding: 5px;" |
 |-
-|
+| style="background: #DCDCDC; padding: 5px; text-align: center;" |'''[[Hyperprolactinemia]]<ref name="pmid15024895">{{cite journal |vauthors=Pickett CA |title=Diagnosis and management of pituitary tumors: recent advances |journal=Prim. Care |volume=30 |issue=4 |pages=765–89 |year=2003 |pmid=15024895 |doi= |url=}}</ref>'''
-| style="background: #DCDCDC; padding: 5px; text-align: center;" |'''Androgen insensitivity syndrome<ref name="pmid15237040">{{cite journal |vauthors= |title=Current evaluation of amenorrhea |journal=Fertil. Steril. |volume=82 |issue=1 |pages=266–72 |year=2004 |pmid=15237040 |doi=10.1016/j.fertnstert.2004.02.098 |url=}}</ref>'''
+| style="background: #F5F5F5; padding: 5px;" |↓
-| style="background: #F5F5F5; padding: 5px;" |
+| style="background: #F5F5F5; padding: 5px;" |↓
-|
+| style="background: #F5F5F5; padding: 5px;" |↓
-|
+| style="background: #F5F5F5; padding: 5px;" |↓
+| style="background: #F5F5F5; padding: 5px;" |↓
 | style="background: #F5F5F5; padding: 5px;" |↓
+| style="background: #F5F5F5; padding: 5px;" |Nl
+| style="background: #F5F5F5; padding: 5px;" |Nl
+| style="background: #F5F5F5; padding: 5px;" |'''↑'''
+| style="background: #F5F5F5; padding: 5px;" |46 [[XX]]
+| style="background: #F5F5F5; padding: 5px;" |Nl
+| style="background: #F5F5F5; padding: 5px;" | +
+| style="background: #F5F5F5; padding: 5px;" | +
+| style="background: #F5F5F5; padding: 5px;" | +
 | style="background: #F5F5F5; padding: 5px;" |
-| style="background: #F5F5F5; padding: 5px;" |
+* [[Galactorrhea]]
-| style="background: #F5F5F5; padding: 5px;" |
+* [[Headaches]]
-| style="background: #F5F5F5; padding: 5px;" |
+* [[Visual impairment|Visual disturbances]]
-| style="background: #F5F5F5; padding: 5px;" |
-| style="background: #F5F5F5; padding: 5px;" |
-| style="background: #F5F5F5; padding: 5px;" |
-| style="background: #F5F5F5; padding: 5px;" |
-| style="background: #F5F5F5; padding: 5px;" |
-| style="background: #F5F5F5; padding: 5px;" |
-| style="background: #F5F5F5; padding: 5px;" |
 |-
-|
+| style="background: #DCDCDC; padding: 5px; text-align: center;" |'''[[Polycystic ovary syndrome]]<ref name="pmid12434783">{{cite journal |vauthors= |title=ACOG practice bulletin clinical management guidelines for obstetrician-gynecologists. Number 40, November 2002 |journal=Obstet Gynecol |volume=100 |issue=5 Pt 1 |pages=1045–50 |year=2002 |pmid=12434783 |doi= |url=}}</ref>'''
-| style="background: #DCDCDC; padding: 5px; text-align: center;" |'''Kallmann syndrome<ref name="pmid7641400">{{cite journal |vauthors=Albanese A, Stanhope R |title=Investigation of delayed puberty |journal=Clin. Endocrinol. (Oxf) |volume=43 |issue=1 |pages=105–10 |year=1995 |pmid=7641400 |doi= |url=}}</ref>'''
+| style="background: #F5F5F5; padding: 5px;" |↓↓
-| style="background: #F5F5F5; padding: 5px;" |
+| style="background: #F5F5F5; padding: 5px;" |↓↓
-|
+| style="background: #F5F5F5; padding: 5px;" |'''↑'''
-|
+| style="background: #F5F5F5; padding: 5px;" |'''↑'''
-| style="background: #F5F5F5; padding: 5px;" |
+| style="background: #F5F5F5; padding: 5px;" |'''↑'''
-| style="background: #F5F5F5; padding: 5px;" |
+| style="background: #F5F5F5; padding: 5px;" |'''↑'''
-| style="background: #F5F5F5; padding: 5px;" |
+| style="background: #F5F5F5; padding: 5px;" |Nl
-| style="background: #F5F5F5; padding: 5px;" |
+| style="background: #F5F5F5; padding: 5px;" |Nl
-| style="background: #F5F5F5; padding: 5px;" |
+| style="background: #F5F5F5; padding: 5px;" |Nl
-| style="background: #F5F5F5; padding: 5px;" |
+| style="background: #F5F5F5; padding: 5px;" |46 [[XX]]
-| style="background: #F5F5F5; padding: 5px;" |
+| style="background: #F5F5F5; padding: 5px;" |Nl
-| style="background: #F5F5F5; padding: 5px;" |
+| style="background: #F5F5F5; padding: 5px;" | +
-| style="background: #F5F5F5; padding: 5px;" |
+| style="background: #F5F5F5; padding: 5px;" | +
-| style="background: #F5F5F5; padding: 5px;" |
+| style="background: #F5F5F5; padding: 5px;" | +
-| style="background: #F5F5F5; padding: 5px;" |
 | style="background: #F5F5F5; padding: 5px;" |
+* [[Hirsutism]]
+* [[Insulin resistance]]
 |-
-|
+| style="background: #DCDCDC; padding: 5px; text-align: center;" |'''[[Asherman's syndrome]]<ref>{{cite book | last = Fritz | first = Marc | title = Clinical gynecologic endocrinology and infertility | publisher = Wolters Kluwer Health/Lippincott Williams & Wilkins | location = Philadelphia | year = 2011 | isbn = 978-0781779685 }}</ref>'''
-| style="background: #DCDCDC; padding: 5px; text-align: center;" |'''Turner syndrome<ref name="pmid15371580">{{cite journal |vauthors=Sybert VP, McCauley E |title=Turner's syndrome |journal=N. Engl. J. Med. |volume=351 |issue=12 |pages=1227–38 |year=2004 |pmid=15371580 |doi=10.1056/NEJMra030360 |url=}}</ref>'''
+| style="background: #F5F5F5; padding: 5px;" |Nl
-| style="background: #F5F5F5; padding: 5px;" |
+| style="background: #F5F5F5; padding: 5px;" |Nl
-|
+| style="background: #F5F5F5; padding: 5px;" |Nl
-|
+| style="background: #F5F5F5; padding: 5px;" |Nl
+| style="background: #F5F5F5; padding: 5px;" |Nl
+| style="background: #F5F5F5; padding: 5px;" |Nl
+| style="background: #F5F5F5; padding: 5px;" |Nl
+| style="background: #F5F5F5; padding: 5px;" |Nl
+| style="background: #F5F5F5; padding: 5px;" |Nl
+| style="background: #F5F5F5; padding: 5px;" |46 [[XX]]
+| style="background: #F5F5F5; padding: 5px;" |Nl
+| style="background: #F5F5F5; padding: 5px;" | +
+| style="background: #F5F5F5; padding: 5px;" | +
+| style="background: #F5F5F5; padding: 5px;" | +
 | style="background: #F5F5F5; padding: 5px;" |
-| style="background: #F5F5F5; padding: 5px;" |
+* History of [[uterus]] [[surgery]]
-| style="background: #F5F5F5; padding: 5px;" |
+* [[Uterus]] scarring
-| style="background: #F5F5F5; padding: 5px;" |
-| style="background: #F5F5F5; padding: 5px;" |
-| style="background: #F5F5F5; padding: 5px;" |
-| style="background: #F5F5F5; padding: 5px;" |
-| style="background: #F5F5F5; padding: 5px;" |
-| style="background: #F5F5F5; padding: 5px;" |
-| style="background: #F5F5F5; padding: 5px;" |
-| style="background: #F5F5F5; padding: 5px;" |
-| style="background: #F5F5F5; padding: 5px;" |
-|-
-|
-![[17-alpha-hydroxylase deficiency]]
-|
-|
-|
-|
-|
-|
-|
-|
-|
-|
-|
-|
-|
-|
-|
-|-
-|'''Secondary amenorrhea'''
-|'''Primary ovarian insufficiency<ref name="pmid19196677">{{cite journal |vauthors=Nelson LM |title=Clinical practice. Primary ovarian insufficiency |journal=N. Engl. J. Med. |volume=360 |issue=6 |pages=606–14 |year=2009 |pmid=19196677 |pmc=2762081 |doi=10.1056/NEJMcp0808697 |url=}}</ref>'''
-|
-|
-|
-|
-|
-|
-|
-|
-|
-|
-|
-|
-|
-|
-|
-|-
-|
-|'''Hypothyroidism<ref name="pmid14575026">{{cite journal |vauthors=Kalro BN |title=Impaired fertility caused by endocrine dysfunction in women |journal=Endocrinol. Metab. Clin. North Am. |volume=32 |issue=3 |pages=573–92 |year=2003 |pmid=14575026 |doi= |url=}}</ref>'''
-|
-|
-|
-|
-|
-|
-|
-|
-|
-|
-|
-|
-|
-|
-|
-|-
-|
-|'''Hyperprolactinemia<ref name="pmid15024895">{{cite journal |vauthors=Pickett CA |title=Diagnosis and management of pituitary tumors: recent advances |journal=Prim. Care |volume=30 |issue=4 |pages=765–89 |year=2003 |pmid=15024895 |doi= |url=}}</ref>'''
-|
-|
-|
-|
-|
-|
-|
-|
-|
-|
-|
-|
-|
-|
-|
-|-
-|
-|'''Polycystic ovary syndrome<ref name="pmid12434783">{{cite journal |vauthors= |title=ACOG practice bulletin clinical management guidelines for obstetrician-gynecologists. Number 40, November 2002 |journal=Obstet Gynecol |volume=100 |issue=5 Pt 1 |pages=1045–50 |year=2002 |pmid=12434783 |doi= |url=}}</ref>'''
-|
-|
-|
-|
-|
-|
-|
-|
-|
-|
-|
-|
-|
-|
-|
-|-
-|
-|'''Asherman's syndrome<ref>{{cite book | last = Fritz | first = Marc | title = Clinical gynecologic endocrinology and infertility | publisher = Wolters Kluwer Health/Lippincott Williams & Wilkins | location = Philadelphia | year = 2011 | isbn = 978-0781779685 }}</ref>'''
-|
-|
-|
-|
-|
-|
-|
-|
-|
-|
-|
-|
-|
-|
-|
-|}
-* '''Physiologic'''
-*:*  [[Pregnancy]]
-*:*  [[Lactation]]
-*:*  [[Menopause]]
-* '''Hypothalamic'''
-*:*  Structural
-*:*:* [[Craniopharyngioma]]
-*:*:* [[Lymphoma]]
-*:*:* [[Sarcoidosis]]
-*:*:* [[Hemochromatosis]]
-*:*  Functional
-*:*:* [[Anorexia]]/[[bulimia]]
-*:*:* Excessive exercise/[[weight loss]]
-*:*:* [[Stress]]
-* ''' Pituitary '''
-*:*  Secretory tumors
-*:*:* [[Prolactinoma]]
-*:*:* [[Cushing’s disease]]
-*:*:* [[Acromegaly]]
-*:*  Destructive lesions
-*:*:* Non-functional tumors
-*:*:* [[Sheehan's syndrome]]
-*:*:* [[Hemochromatosis]]
-* ''' Ovarian '''
-*:*  [[Premature ovarian failure]]
-*:*  Hyperandrogenic disorders
-*:*:* [[Polycystic ovary syndrome]] ([[PCOS]])
-*:*:* Nonclassical [[congenital adrenal hyperplasia]] (NCCAH)
-*:*:* Adrenal/ovarian androgen-secreting tumors
-* ''' Anatomic '''
-*:*  Destruction of uterine cavity
-*:*:* [[Asherman’s syndrome]]
-*:*:* [[Tuberculosis]] ([[TB]])
-*  ''' Other '''
-*:*  [[Hyperthyroidism]]/[[hypothyroidism]]
-*:*  [[Cushing’s syndrome]]
-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>
-{| class="wikitable"
-|-
-! rowspan="2" | Disease name
-! rowspan="2" | Cause
-! colspan="7" | Differentiating
-|-
-!Findings
-![[Uterus]]
-![[Breast]] development
-![[Testosterone]]
-![[LH]]
-![[FSH]]
-![[Karyotyping]]
-|-
-!3-beta-hydroxysteroid dehydrogenase type 2 deficiency
-|
-* HSD3B2  [[gene]] [[mutation]]
-|
-* [[Undervirilization]] in 46,XY individuals due to a block in [[testosterone]] biosynthesis
-* Mild [[virilization]] in 46,XX individuals
-| align="center" style="padding: 5px 5px; background: " |
-Yes in [[female]]
-| align="center" style="padding: 5px 5px; background: " |
-Yes in [[female]]
-| align="center" style="padding: 5px 5px; background: " |
-Low
-| align="center" style="padding: 5px 5px; background: " |
-Normal
-| align="center" style="padding: 5px 5px; background: " |
-Normal
-| align="center" style="padding: 5px 5px; background: " |
-[[XY]] and [[XX]]
-|-
-![[17-alpha-hydroxylase deficiency]]
-|
-* [[CYP17A1|CYP17A1 gene mutation]]
-|
-* Female [[external genitalia]]
-* [[Primary amenorrhea]]
-* [[Hypertension]]
-* Absence of secondary [[sexual characteristics]]
-* Minimal [[body hair]]
-| align="center" style="padding: 5px 5px; background: " |
-No
-| align="center" style="padding: 5px 5px; background: " |
-No
-| align="center" style="padding: 5px 5px; background: " |
-Low
-| align="center" style="padding: 5px 5px; background: " |
-Normal
-| align="center" style="padding: 5px 5px; background: " |
-Normal
-| align="center" style="padding: 5px 5px; background: " |
-[[XY]]
-|-
-![[Gonadal dysgenesis]]
-|
-* Mutations:
-** [[SRY]]
-** FOG2/ZFPM2
-** WNT1
-|
-* Female [[external genitalia]]
-* Intact [[Mullerian ducts]]
-* [[Streak gonads]]
-* [[karyotyping ]]
-| align="center" style="padding: 5px 5px; background: " |
-Yes
-| align="center" style="padding: 5px 5px; background: " |
-Yes
-| align="center" style="padding: 5px 5px; background: " |
-Low
-| align="center" style="padding: 5px 5px; background: " |
-High
-| align="center" style="padding: 5px 5px; background: " |
-High
-| align="center" style="padding: 5px 5px; background: " |
-[[XY]]
-|-
-![[Testicular regression syndrome]]
-|
-* Loss of [[testicular]] function and tissue early in development
-|
-* Female phenotype with atrophic [[Mullerian ducts]]
-| align="center" style="padding: 5px 5px; background: " |
-No
-| align="center" style="padding: 5px 5px; background: " |
-No
-| align="center" style="padding: 5px 5px; background: " |
-Low
-| align="center" style="padding: 5px 5px; background: " |
-High
-| align="center" style="padding: 5px 5px; background: " |
-High
-| align="center" style="padding: 5px 5px; background: " |
-[[XY]]
-|-
-![[LH receptor|LH receptor defects]]
-|
-* [[LH receptor]] [[gene]] [[mutation]] on [[chromosome 2]]
-|
-* Female [[external genitalia]]
-* Lack a [[uterus]] and [[fallopian tubes]]
-* [[Epididymis]] and [[vas deferens]] may be present
-* Laboratory:
-** Unresponsiveness to [[hCG]]
-** Normal levels of [[testosterone]] precursors (produced in the [[adrenal glands]])
-| align="center" style="padding: 5px 5px; background: " |
-No
-| align="center" style="padding: 5px 5px; background: " |
-No
-| align="center" style="padding: 5px 5px; background: " |
-Low
-| align="center" style="padding: 5px 5px; background: " |
-High
-| align="center" style="padding: 5px 5px; background: " |
-High
-| align="center" style="padding: 5px 5px; background: " |
-[[XY]]
-|-
-![[5-alpha-reductase deficiency|5-alpha-reductase type 2 deficiency]]
-|
-* [[Autosomal recessive]]
-|
-* Female [[external genitalia or ambiguous]]
-* Bilateral testes and normal [[testosterone]] formation
-* Impaired external [[virilization]] during [[embryogenesis]]
-* Defective conversion of [[testosterone]] to [[DHT]]
-* [[Testosterone]] to [[DHT]] ratio is >10:1
-| align="center" style="padding: 5px 5px; background: " |
-No
-| align="center" style="padding: 5px 5px; background: " |
-No
-| align="center" style="padding: 5px 5px; background: " |
-Normal male range
-| align="center" style="padding: 5px 5px; background: " |
-High to normal
-| align="center" style="padding: 5px 5px; background: " |
-High to normal
-| align="center" style="padding: 5px 5px; background: " |
-[[XY]]
-|-
-![[Androgen insensitivity syndrome]]
-|
-* [[Androgen receptor]] defect
-|
-* Female [[external genitalia]]
-* Resistant to [[testosterone]]
-| align="center" style="padding: 5px 5px; background: " |
-No
-| align="center" style="padding: 5px 5px; background: " |
-Yes
-| align="center" style="padding: 5px 5px; background: " |
-Normal male range
-| align="center" style="padding: 5px 5px; background: " |
-Normal
-| align="center" style="padding: 5px 5px; background: " |
-Normal
-| align="center" style="padding: 5px 5px; background: " |
-[[XY]]
-|-
-![[Mullerian agenesis]]
-|
-* Mutations in ''[[WNT4]]''
-|
-* Normal female [[genitalia]]
-* Normal [[breast]] development
-| align="center" style="padding: 5px 5px; background: " |
-No
-| align="center" style="padding: 5px 5px; background: " |
-Yes
-| align="center" style="padding: 5px 5px; background: " |
-Normal [[female]] range
-| align="center" style="padding: 5px 5px; background: " |
-Normal
-| align="center" style="padding: 5px 5px; background: " |
-Normal
-| align="center" style="padding: 5px 5px; background: " |
-[[XX]]
-|-
-![[Ovarian insufficiency|Primary ovarian insufficiency]]
-|
-* [[Genetic defects]] such as [[turner syndrome]], [[fragile X syndrome]], and other chromosomal defects
-|
-* Normal [[female genitalia]]
-| align="center" style="padding: 5px 5px; background: " |
-Yes
-| align="center" style="padding: 5px 5px; background: " |
-Yes
-| align="center" style="padding: 5px 5px; background: " |
-Normal female range
-| align="center" style="padding: 5px 5px; background: " |
-High
-| align="center" style="padding: 5px 5px; background: " |
-High
-| align="center" style="padding: 5px 5px; background: " |
-[[XX]]
-|-
-![[Hypogonadotropic hypogonadism]]
-|
-* Functional, sellar masses
-|
-* Normal [[female genitalia]],
-* Delayed [[puberty]]
-| align="center" style="padding: 5px 5px; background: " |
-Yes
-| align="center" style="padding: 5px 5px; background: " |
-No
-| align="center" style="padding: 5px 5px; background: " |
-Normal female range
-| align="center" style="padding: 5px 5px; background: " |
-Low
-| align="center" style="padding: 5px 5px; background: " |
-Normal
-| align="center" style="padding: 5px 5px; background: " |
-[[XX]]
-|-
-! align="center" style="padding: 5px 5px; background: " |
-[[Turner syndrome]]
-|
-* Chromosomal
-|
-* Female [[external genitalia]]
-| align="center" style="padding: 5px 5px; background: " |
-Yes
-| align="center" style="padding: 5px 5px; background: " |
-Yes
-| align="center" style="padding: 5px 5px; background: " |
-Normal [[female]] range
-| align="center" style="padding: 5px 5px; background: " |
-High
-| align="center" style="padding: 5px 5px; background: " |
-High
-| align="center" style="padding: 5px 5px; background: " |
-[[Turner syndrome|45 XO]]
 |}

Amenorrhea differential diagnosis: Difference between revisions

Revision as of 15:34, 25 September 2017

Overview

Differentiating Diseases with Amenorrhea from each other

References

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