Amenorrhea differential diagnosis: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{Amenorrhea}} | {{Amenorrhea}} | ||
{{CMG}}; {{AE}} | {{CMG}}; {{AE}} | ||
== Overview == | == Overview == | ||
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{| | {| | ||
|- style="background: #4479BA; color: #FFFFFF; text-align: center;" | |- style="background: #4479BA; color: #FFFFFF; text-align: center;" | ||
! rowspan="2" |Group | |||
! rowspan="2" |Diseases | ! rowspan="2" |Diseases | ||
! colspan=" | ! colspan="10" |Laboratory Findings | ||
! colspan="4" |Physical Examination | ! colspan="4" |Physical Examination | ||
! rowspan="2" |Other Findings | ! rowspan="2" |Other Findings | ||
|- style="background: #4479BA; color: #FFFFFF; text-align: center;" | |- style="background: #4479BA; color: #FFFFFF; text-align: center;" | ||
! | !Estrogen | ||
! | !Progesterone | ||
! | !GnRH | ||
! | !LH | ||
! | !FSH | ||
! | !Androgen | ||
! | !TSH | ||
! | !T4 | ||
! | !PRL | ||
! | !Karyotype | ||
! | !Genitalia | ||
! | !Breast development | ||
!Pubic hair | |||
!Uterus | |||
|- | |- | ||
| style="background: #DCDCDC; padding: 5px; text-align: center;" | | |'''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>''' | |||
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! 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;" |'''↑''' | ||
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| 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>''' | |||
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| 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>''' | |||
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| 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>''' | |||
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| style="background: #DCDCDC; padding: 5px; text-align: center;" |'''[[17-alpha-hydroxylase deficiency]]''' | |||
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|'''Secondary amenorrhea''' | |||
| style="background: #DCDCDC; padding: 5px; text-align: center;" |'''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>''' | |||
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| 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>''' | |||
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| 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>''' | |||
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| 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>''' | |||
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| 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>''' | |||
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Revision as of 14:28, 25 September 2017
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
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].
Group | Diseases | Laboratory Findings | Physical Examination | Other Findings | ||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Estrogen | Progesterone | GnRH | LH | FSH | Androgen | TSH | T4 | PRL | Karyotype | Genitalia | Breast development | Pubic hair | Uterus | |||
Primary amenorrhea | Mullerian agenesis[1] | + | ||||||||||||||
3-beta-hydroxysteroid dehydrogenase type 2 deficiency | ↑ | - | ||||||||||||||
Androgen insensitivity syndrome[2] | ↓ | |||||||||||||||
Kallmann syndrome[3] | ||||||||||||||||
Turner syndrome[4] | ||||||||||||||||
17-alpha-hydroxylase deficiency | ||||||||||||||||
Secondary amenorrhea | Primary ovarian insufficiency[5] | |||||||||||||||
Hypothyroidism[6] | ||||||||||||||||
Hyperprolactinemia[7] | ||||||||||||||||
Polycystic ovary syndrome[8] | ||||||||||||||||
Asherman's syndrome[9] |
- Physiologic
- Hypothalamic
- Structural
- Functional
- Anorexia/bulimia
- Excessive exercise/weight loss
- Stress
- Pituitary
- Secretory tumors
- 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
- Other
Diseases that cause primary amenorrhea in females:[10][11][12][13][14][15][16][17]
Disease name | Cause | Differentiating | ||||||
---|---|---|---|---|---|---|---|---|
Findings | Uterus | Breast development | Testosterone | LH | FSH | Karyotyping | ||
3-beta-hydroxysteroid dehydrogenase type 2 deficiency |
|
Yes in female |
Yes in female |
Low |
Normal |
Normal |
||
17-alpha-hydroxylase deficiency |
|
No |
No |
Low |
Normal |
Normal |
||
Gonadal dysgenesis |
|
|
Yes |
Yes |
Low |
High |
High |
|
Testicular regression syndrome |
|
|
No |
No |
Low |
High |
High |
|
LH receptor defects |
|
No |
No |
Low |
High |
High |
||
5-alpha-reductase type 2 deficiency |
|
No |
No |
Normal male range |
High to normal |
High to normal |
||
Androgen insensitivity syndrome |
|
|
No |
Yes |
Normal male range |
Normal |
Normal |
|
Mullerian agenesis |
|
No |
Yes |
Normal female range |
Normal |
Normal |
||
Primary ovarian insufficiency |
|
|
Yes |
Yes |
Normal female range |
High |
High |
|
Hypogonadotropic hypogonadism |
|
|
Yes |
No |
Normal female range |
Low |
Normal |
|
|
|
Yes |
Yes |
Normal female range |
High |
High |
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.
- ↑ 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 (2011). "Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients". J. Clin. Endocrinol. Metab. 96 (2): 296–307. doi:10.1210/jc.2010-1024. PMID 21147889.
- ↑ Moreira AC, Leal AM, Castro M (1990). "Characterization of adrenocorticotropin secretion in a patient with 17 alpha-hydroxylase deficiency". J. Clin. Endocrinol. Metab. 71 (1): 86–91. doi:10.1210/jcem-71-1-86. PMID 2164530.
- ↑ Heremans GF, Moolenaar AJ, van Gelderen HH (1976). "Female phenotype in a male child due to 17-alpha-hydroxylase deficiency". Arch. Dis. Child. 51 (9): 721–3. PMC 1546244. PMID 999330.
- ↑ Biglieri EG (1979). "Mechanisms establishing the mineralocorticoid hormone patterns in the 17 alpha-hydroxylase deficiency syndrome". J. Steroid Biochem. 11 (1B): 653–7. PMID 226795.
- ↑ Saenger P (1996). "Turner's syndrome". N. Engl. J. Med. 335 (23): 1749–54. doi:10.1056/NEJM199612053352307. PMID 8929268.
- ↑ Bastian C, Muller JB, Lortat-Jacob S, Nihoul-Fékété C, Bignon-Topalovic J, McElreavey K, Bashamboo A, Brauner R (2015). "Genetic mutations and somatic anomalies in association with 46,XY gonadal dysgenesis". Fertil. Steril. 103 (5): 1297–304. doi:10.1016/j.fertnstert.2015.01.043. PMID 25813279.
- ↑ Imperato-McGinley J, Guerrero L, Gautier T, Peterson RE (1974). "Steroid 5alpha-reductase deficiency in man: an inherited form of male pseudohermaphroditism". Science. 186 (4170): 1213–5. PMID 4432067.
- ↑ Schnitzer JJ, Donahoe PK (2001). "Surgical treatment of congenital adrenal hyperplasia". Endocrinol. Metab. Clin. North Am. 30 (1): 137–54. PMID 11344932.