Polycystic ovary syndrome differential diagnosis: Difference between revisions

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|[[Pregnancy]]
|[[Pregnancy]]
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* Pregnancy always should be excluded in a patient with a history of amenorrhea
* Pregnancy always should be excluded in a patient with a history of [[amenorrhea]]


* Features include amenorrhea or oligomenorrhea, abnormal uterine bleeding, nausea/vomiting, cravings, weight gain (although not in the early stages and not if vomiting), polyuria, abdominal cramps and constipation, fatigue, dizziness/lightheadedness, and increased pigmentation (moles, nipples)
* Features include amenorrhea or [[oligomenorrhea]], abnormal [[uterine bleeding]], [[Nausea and vomiting|nausea/vomiting]], cravings, [[weight gain]] (although not in the early stages and not if vomiting), [[polyuria]], [[abdominal cramps]] and [[constipation]], [[fatigue]], [[dizziness]]/[[lightheadedness]], and [[Hyperpigmentation|increased pigmentation]] (moles, [[nipples]])


* Uterine enlargement is detectable on abdominal examination at approximately 14 weeks of gestation
* [[Uterus|Uterine]] enlargement is detectable on [[abdominal examination]] at approximately 14 weeks of [[gestation]]


* Ectopic pregnancy may cause oligomenorrhea, amenorrhea, or abnormal uterine bleeding with abdominal pain and sometimes subtle or absent physical symptoms and signs of pregnancy
* [[Ectopic pregnancy]] may cause oligomenorrhea, amenorrhea, or abnormal uterine bleeding with [[abdominal pain]] and sometimes subtle or absent physical symptoms and signs of [[pregnancy]]
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|Hypothalamic amenorrhea
|Hypothalamic amenorrhea
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* Diagnosis of exclusion
* Diagnosis of exclusion
* Seen in athletes, people on crash diets, patients with significant systemic illness, and those experiencing undue stress or anxiety  
* Seen in athletes, people on crash diets, patients with significant systemic illness, and those experiencing undue [[stress]] or [[anxiety]]
* Predisposing features are as follows weight loss, particularly if features of anorexia nervosa are present or the BMI is <19 kg/m2
* Predisposing features are as follows [[weight loss]], particularly if features of [[anorexia nervosa]] are present or the [[BMI]] is <19 kg/m2
* Recent administration of depot medroxyprogesterone, which may suppress ovarian activity for 6 months to a year
* Recent administration of depot [[Medroxyprogesterone acetate|medroxyprogesterone]], which may suppress [[ovarian]] activity for 6 months to a year
* Use of dopamine agonists (eg, antidepressants) and major tranquilizers
* Use of [[dopamine agonists]] (eg, antidepressants) and major [[tranquilizers]]
* Hyperthyroidism  
* [[Hyperthyroidism]]
* In patients with weight loss related to anorexia nervosa, fine hair growth (lanugo) may occur all over the body, but it differs from hirsutism in its fineness and wide distribution
* In patients with weight loss related to anorexia nervosa, fine hair growth ([[lanugo]]) may occur all over the body, but it differs from [[hirsutism]] in its fineness and wide distribution
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|[[Primary amenorrhea]]
|[[Primary amenorrhea]]
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* Causes include reproductive system abnormalities, chromosomal abnormalities, or delayed puberty
* Causes include [[reproductive system]] abnormalities, [[chromosomal]] abnormalities, or [[delayed puberty]]
* If secondary sexual characteristics are present, an anatomic abnormality (eg, imperforate hymen, which is rare) should be considered
* If [[secondary sexual characteristics]] are present, an [[anatomic]] abnormality (eg, [[imperforate hymen]], which is rare) should be considered
* If secondary sexual characteristics are absent, a chromosomal abnormality (eg, Turner syndrome ) or delayed puberty should be considered
* If secondary sexual characteristics are absent, a chromosomal abnormality (eg, [[Turner syndrome]] ) or [[delayed puberty]] should be considered
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|[[Cushing's syndrome|Cushing syndrome]]
|[[Cushing's syndrome|Cushing syndrome]]
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* Cushing syndrome is due to excessive glucocorticoid secretion from the adrenal glands, either primarily or secondary to stimulation from pituitary or ectopic hormones; can also be caused by exogenous steroid use
* [[Cushing syndrome]] is due to excessive [[glucocorticoid]] secretion from the [[adrenal glands]], either primarily or secondary to stimulation from [[Pituitary gland|pituitary]] or ectopic hormones; can also be caused by exogenous [[steroid]] use


* Features include hypertension, weight gain (central distribution), acne, and abdominal striae Patients have low plasma sodium levels and elevated plasma cortisol levels on dexamethasone suppression testing
* Features include [[hypertension]], [[weight gain]] (central distribution), [[acne]], and abdominal striae Patients have [[Hyponatremia|low plasma sodium levels]] and elevated plasma cortisol levels on [[dexamethasone]] suppression testing
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|[[Hyperprolactinemia]]
|[[Hyperprolactinemia]]
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* Mild hyperprolactinemia may occur as part of PCOS-related hormonal dysfunction
* Mild [[hyperprolactinemia]] may occur as part of [[PCOS]]-related hormonal dysfunction


* Other causes include stress, lactation, and use of dopamine antagonists
* Other causes include [[stress]], [[lactation]], and use of [[dopamine antagonists]]
* A prolactinoma of the pituitary gland is an uncommon cause and should be suspected if prolactin levels are very high (>200 ng/mL)
* A [[prolactinoma]] of the [[pituitary gland]] is an uncommon cause and should be suspected if [[prolactin]] levels are very high (>200 ng/mL)
* Physical examination findings are usually normal
* Physical examination findings are usually normal
* As in patients with PCOS, hyperprolactinemia may be associated with mild galactorrhea and oligomenorrhea or amenorrhea; however, galactorrhea also can occur with nipple stimulation and/or stress when prolactin levels are within normal ranges
* As in patients with PCOS, hyperprolactinemia may be associated with mild [[galactorrhea]] and [[oligomenorrhea]] or [[amenorrhea]]; however, galactorrhea also can occur with [[nipple]] stimulation and/or [[stress]] when prolactin levels are within normal ranges
* A large prolactinoma may cause headaches and visual field disturbance due to pressure on the optic chiasm, classically a gradually increasing bi-temporal hemianopsia
* A large [[prolactinoma]] may cause [[headaches]] and [[visual field]] disturbance due to pressure on the [[optic chiasm]], classically a gradually increasing bi-temporal hemianopsia
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|Ovarian or adrenal tumor
|Ovarian or adrenal tumor
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* Benign ovarian tumors and ovarian cancer are rare causes of excessive androgen secretion; adrenocortical tumors also can increase the production of sex hormones
* Benign [[Ovarian tumor|ovarian tumors]] and ovarian cancer are rare causes of excessive [[androgen]] secretion; [[adrenocortical]] [[tumors]] also can increase the production of [[sex hormones]]
* Abdominal swelling or mass, abdominal pain due to fluid leakage or torsion, dyspareunia, abdominal ascites, and features of metastatic disease may be present
* [[Abdominal swelling]] or [[mass]], [[abdominal pain]] due to fluid leakage or [[torsion]], [[dyspareunia]], abdominal [[ascites]], and features of [[metastatic]] disease may be present
* Features of androgenization include hirsutism, weight gain, oligomenorrhea or amenorrhea, acne, clitoral hypertrophy, deepening of the voice, and high serum androgen (eg, testosterone, other androgens) levels
* Features of androgenization include [[hirsutism]], [[weight gain]], [[oligomenorrhea]] or [[amenorrhea]], [[acne]], [[clitoral hypertrophy]], deepening of the voice, and high [[Androgen|serum androgen]] (eg, [[testosterone]], other androgens) levels
* In patients with an androgen-secreting tumor, serum testosterone is not suppressed by dexamethasone
* In patients with an androgen-secreting tumor, serum testosterone is not suppressed by [[dexamethasone]]
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|[[Congenital adrenal hyperplasia]]
|[[Congenital adrenal hyperplasia]]
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* Congenital adrenal hyperplasia is a rare genetic condition resulting from 21-hydroxylase deficiency
* Congenital adrenal hyperplasia is a rare [[genetic]] condition resulting from 21-hydroxylase deficiency
* The late-onset form presents at or around menarche Patients have features of androgenization and subfertility
* The late-onset form presents at or around menarche Patients have features of androgenization and [[subfertility]]
* Affects approximately 1% of hirsute patients More common in Ashkenazi Jews (19%), inhabitants of the former Yugoslavia (12%), and Italians (6%)
* Affects approximately 1% of hirsute patients More common in Ashkenazi Jews (19%), inhabitants of the former Yugoslavia (12%), and Italians (6%)
* Associated with high levels of 17-hydroxyprogesterone
* Associated with high levels of [[17-hydroxyprogesterone]]
* A short adrenocorticotropic hormone stimulation test with measurement of serum17-hydroxyprogesterone confirms the diagnosis Assays of a variety of androgenic hormones help define other rare adrenal enzyme deficiencies, which present similarly to 21-hydroxylase deficiency
* A short [[adrenocorticotropic hormone]] stimulation test with measurement of serum17-hydroxyprogesterone confirms the diagnostic assays of a variety of androgenic hormones help define other rare adrenal enzyme deficiencies, which present similarly to [[21-hydroxylase deficiency]]
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|Anabolic steroid abuse
|Anabolic steroid abuse
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* Anabolic steroids are synthetic hormones that imitate the actions of testosterone by increasing muscle bulk and strength
* [[Anabolic steroid|Anabolic steroids]] are synthetic hormones that imitate the actions of [[testosterone]] by increasing [[muscle]] bulk and strength
* Should be considered if the patient is a serious sportswoman or bodybuilder
* Should be considered if the patient is a serious sportswoman or bodybuilder
* Features include virilization (including acne and hirsutism), often increased muscle bulk in male pattern, oligomenorrhea or amenorrhea, clitoromegaly, gastritis, hepatic enlargement, alopecia, and aggression
* Features include [[virilization]] (including [[acne]] and [[hirsutism]]), often increased muscle bulk in male pattern, [[oligomenorrhea]] or [[amenorrhea]], [[clitoromegaly]], [[gastritis]], [[hepatomegaly]], [[alopecia]], and aggression
* Altered liver function test results are seen
* Altered [[liver function test]] results are seen
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|[[Hirsutism]]
|[[Hirsutism]]
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* Hirsutism is excessive facial and body hair, usually coarse and in a male pattern of distribution
* [[Hirsutism]] is excessive facial and body hair, usually coarse and in a male pattern of distribution
* Approximately 10% of women report unwanted facial hair
* Approximately 10% of women report unwanted facial hair
* There is often a family history and typically some Mediterranean or Middle Eastern ancestry
* There is often a family history and typically some Mediterranean or Middle Eastern ancestry
* May also result from use of certain medications, both androgens, and others including danazol, glucocorticoids, cyclosporine, and phenytoin
* May also result from use of certain [[medications]], both [[androgens]], and others including [[danazol]], [[glucocorticoids]], [[cyclosporine]], and [[phenytoin]]
* Menstrual history is normal
* [[Menstrual cycle|Menstrual]] history is normal
* When the cause is genetic, the excessive hair, especially on the face (upper lip), is present throughout adulthood, and there is no virilization
* When the cause is [[Genetics|genetic]], the excessive hair, especially on the face (upper lip), is present throughout adulthood, and there is no virilization
* When secondary to medications, the excessive hair is of new onset, and other features of virilization, such as acne and deepened voice, may be present
* When secondary to medications, the excessive hair is of new onset, and other features of virilization, such as [[acne]] and deepened voice, may be present
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===Other differentials===
===Other differentials===

Revision as of 14:16, 17 October 2017

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

Overview

Polycystic ovary syndrome must be differentiated from other causes of irregular or absent menstruation and hirsutism, such as congenital adrenal hyperplasia, cushing's syndrome, hyperprolactinemia, and other pituitary or adrenal disorders.

Differentiating Polycystic ovary syndrome from other Diseases

Polycystic ovary syndrome must be differentiated from other causes of irregular or absent menstruation and hirsutism, such as congenital adrenal hyperplasia, cushing's syndrome, hyperprolactinemia, and other pituitary or adrenal disorders. The table below summarizes the findings that differentiate polycystic ovary syndrome from other conditions that cause irregular or absent menstruation and hirsutism:[1][2][3][4]

Disease Differentiating Features
Pregnancy
  • Pregnancy always should be excluded in a patient with a history of amenorrhea
Hypothalamic amenorrhea
  • Diagnosis of exclusion
  • Seen in athletes, people on crash diets, patients with significant systemic illness, and those experiencing undue stress or anxiety
  • Predisposing features are as follows weight loss, particularly if features of anorexia nervosa are present or the BMI is <19 kg/m2
  • Recent administration of depot medroxyprogesterone, which may suppress ovarian activity for 6 months to a year
  • Use of dopamine agonists (eg, antidepressants) and major tranquilizers
  • Hyperthyroidism
  • In patients with weight loss related to anorexia nervosa, fine hair growth (lanugo) may occur all over the body, but it differs from hirsutism in its fineness and wide distribution
Primary amenorrhea
Cushing syndrome
Hyperprolactinemia
Ovarian or adrenal tumor
Congenital adrenal hyperplasia
  • Congenital adrenal hyperplasia is a rare genetic condition resulting from 21-hydroxylase deficiency
  • The late-onset form presents at or around menarche Patients have features of androgenization and subfertility
  • Affects approximately 1% of hirsute patients More common in Ashkenazi Jews (19%), inhabitants of the former Yugoslavia (12%), and Italians (6%)
  • Associated with high levels of 17-hydroxyprogesterone
  • A short adrenocorticotropic hormone stimulation test with measurement of serum17-hydroxyprogesterone confirms the diagnostic assays of a variety of androgenic hormones help define other rare adrenal enzyme deficiencies, which present similarly to 21-hydroxylase deficiency
Anabolic steroid abuse
Hirsutism
  • Hirsutism is excessive facial and body hair, usually coarse and in a male pattern of distribution
  • Approximately 10% of women report unwanted facial hair
  • There is often a family history and typically some Mediterranean or Middle Eastern ancestry
  • May also result from use of certain medications, both androgens, and others including danazol, glucocorticoids, cyclosporine, and phenytoin
  • Menstrual history is normal
  • When the cause is genetic, the excessive hair, especially on the face (upper lip), is present throughout adulthood, and there is no virilization
  • When secondary to medications, the excessive hair is of new onset, and other features of virilization, such as acne and deepened voice, may be present


Other differentials

Polycystic ovarian syndrome must be differentiated from diseases that cause virilization and hirsutism in female:[5][6][7]

Disease name Steroid status Other laboratory Important clinical findings
Non-classic type of 21-hydroxylase deficiency Increased:
  • No symptoms in infancy and male
11-β hydroxylase deficiency Increased:

Decreased:

3 beta-hydroxysteroid dehydrogenase deficiency Increased:

Decreased:

Polycystic ovary syndrome
Adrenal tumors
  • Variable levels depends on tumor type
  • Older age
  • Rapidly progressive symptoms
Ovarian virilizing tumor
  • Variable levels depends on tumor type
  • Older age
  • Rapidly progressive symptoms
Cushing's syndrome
Hyperprolactinemia

References

  1. Boscaro M, Barzon L, Fallo F, Sonino N (2001). "Cushing's syndrome". Lancet. 357 (9258): 783–91. doi:10.1016/S0140-6736(00)04172-6. PMID 11253984.
  2. Findling JW, Raff H (2001). "Diagnosis and differential diagnosis of Cushing's syndrome". Endocrinol. Metab. Clin. North Am. 30 (3): 729–47. PMID 11571938.
  3. Newell-Price J, Trainer P, Besser M, Grossman A (1998). "The diagnosis and differential diagnosis of Cushing's syndrome and pseudo-Cushing's states". Endocr. Rev. 19 (5): 647–72. doi:10.1210/edrv.19.5.0346. PMID 9793762.
  4. "How Is Metabolic Syndrome Diagnosed? - NHLBI, NIH".
  5. Hohl A, Ronsoni MF, Oliveira M (2014). "Hirsutism: diagnosis and treatment". Arq Bras Endocrinol Metabol. 58 (2): 97–107. PMID 24830586. Vancouver style error: initials (help)
  6. White PC, Speiser PW (2000). "Congenital adrenal hyperplasia due to 21-hydroxylase deficiency". Endocr. Rev. 21 (3): 245–91. doi:10.1210/edrv.21.3.0398. PMID 10857554.
  7. Melmed, Shlomo (2016). Williams textbook of endocrinology. Philadelphia, PA: Elsevier. ISBN 978-0323297387.=


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