Amenorrhea differential diagnosis: Difference between revisions

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Revision as of 14:47, 18 September 2017

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Differential Diagnosis Organized by Category of Causes

Physiologic
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:^[1]^[2]^[3]^[4]^[5]^[6]^[7]^[8]

Disease name	Cause	Differentiating
Disease name	Cause	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	Yes in female	Yes in female	Low	Normal	Normal	XY and XX
17-alpha-hydroxylase deficiency	CYP17A1 gene mutation	Female external genitalia Primary amenorrhea Hypertension Absence of secondary sexual characteristics Minimal body hair	No	No	Low	Normal	Normal	XY
Gonadal dysgenesis	Mutations: SRY FOG2/ZFPM2 WNT1	Female external genitalia Intact Mullerian ducts Streak gonads karyotyping	Yes	Yes	Low	High	High	XY
Testicular regression syndrome	Loss of testicular function and tissue early in development	Female phenotype with atrophic Mullerian ducts	No	No	Low	High	High	XY
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)	No	No	Low	High	High	XY
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	No	No	Normal male range	High to normal	High to normal	XY
Androgen insensitivity syndrome	Androgen receptor defect	Female external genitalia Resistant to testosterone	No	Yes	Normal male range	Normal	Normal	XY
Mullerian agenesis	Mutations in WNT4	Normal female genitalia Normal breast development	No	Yes	Normal female range	Normal	Normal	XX
Primary ovarian insufficiency	Genetic defects such as turner syndrome, fragile X syndrome, and other chromosomal defects	Normal female genitalia	Yes	Yes	Normal female range	High	High	XX
Hypogonadotropic hypogonadism	Functional, sellar masses	Normal female genitalia, Delayed puberty	Yes	No	Normal female range	Low	Normal	XX
Turner syndrome	Chromosomal	Female external genitalia	Yes	Yes	Normal female range	High	High	45 XO

References

↑ 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.

Template:WH Template:WS

[pmid21147889-1] 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.

[pmid2164530-2] 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.

[pmid999330-3] 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.

[pmid226795-4] 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.

[pmid8929268-5] Saenger P (1996). "Turner's syndrome". N. Engl. J. Med. 335 (23): 1749–54. doi:10.1056/NEJM199612053352307. PMID 8929268.

[pmid25813279-6] 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.

[pmid4432067-7] 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.

[pmid11344932-8] Schnitzer JJ, Donahoe PK (2001). "Surgical treatment of congenital adrenal hyperplasia". Endocrinol. Metab. Clin. North Am. 30 (1): 137–54. PMID 11344932.

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@@ Line 41: / Line 41: @@
 *:*  [[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]]
+|}
 ==References==

Amenorrhea differential diagnosis: Difference between revisions

Revision as of 14:47, 18 September 2017

Differential Diagnosis Organized by Category of Causes

References

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