Hirsutism differential diagnosis: Difference between revisions

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==Overview==
==Overview==
The diagnosis of hirsutism requires the exclusion of related disorders with peripheral androgen activity. Hirsutism starts shortly after puberty with a slow course and progression.
Hirsutism must be differentiated based on the different diseases causing hirsutism such as [[21-hydroxylase deficiency]], [[11β-hydroxylase deficiency|11-β hydroxylase deficiency]], [[3 beta-hydroxysteroid dehydrogenase deficiency|3 beta-hydroxysteroid dehydrogenase deficiency,]] [[Polycystic ovary syndrome ]] , [[Cushing's syndrome]], and [[hyperprolactinemia]].


==Differential Diagnosis==
==Differential Diagnosis==


Hirsutism must be differentiated based on the different diseases causing hirsutism such as [[21-hydroxylase deficiency]], [[11β-hydroxylase deficiency|11-β hydroxylase deficiency]], [[3 beta-hydroxysteroid dehydrogenase deficiency|3 beta-hydroxysteroid dehydrogenase deficiency,]] [[Polycystic ovary syndrome ]] , [[Cushing's syndrome]], and [[hyperprolactinemia]].<ref name="pmid24830586">{{cite journal |vauthors=Hohl A, Ronsoni MF, Oliveira Md |title=Hirsutism: diagnosis and treatment |journal=Arq Bras Endocrinol Metabol |volume=58 |issue=2 |pages=97–107 |year=2014 |pmid=24830586 |doi= |url=}}</ref><ref name="pmid10857554">{{cite journal |vauthors=White PC, Speiser PW |title=Congenital adrenal hyperplasia due to 21-hydroxylase deficiency |journal=Endocr. Rev. |volume=21 |issue=3 |pages=245–91 |year=2000 |pmid=10857554 |doi=10.1210/edrv.21.3.0398 |url=}}</ref><ref name="ISBN:978-0323297387">{{cite book | last = Melmed | first = Shlomo | title = Williams textbook of endocrinology | publisher = Elsevier | location = Philadelphia, PA | year = 2016 | isbn = 978-0323297387 }}=</ref>
The diagnosis of hirsutism requires the exclusion of related disorders with peripheral androgen activity. Hirsutism starts shortly after puberty with a slow course and progression. Hirsutism must be differentiated based on the different diseases causing hirsutism such as [[21-hydroxylase deficiency]], [[11β-hydroxylase deficiency|11-β hydroxylase deficiency]], [[3 beta-hydroxysteroid dehydrogenase deficiency|3 beta-hydroxysteroid dehydrogenase deficiency,]] [[Polycystic ovary syndrome ]] , [[Cushing's syndrome]], and [[hyperprolactinemia]].<ref name="pmid24830586">{{cite journal |vauthors=Hohl A, Ronsoni MF, Oliveira Md |title=Hirsutism: diagnosis and treatment |journal=Arq Bras Endocrinol Metabol |volume=58 |issue=2 |pages=97–107 |year=2014 |pmid=24830586 |doi= |url=}}</ref><ref name="pmid10857554">{{cite journal |vauthors=White PC, Speiser PW |title=Congenital adrenal hyperplasia due to 21-hydroxylase deficiency |journal=Endocr. Rev. |volume=21 |issue=3 |pages=245–91 |year=2000 |pmid=10857554 |doi=10.1210/edrv.21.3.0398 |url=}}</ref><ref name="ISBN:978-0323297387">{{cite book | last = Melmed | first = Shlomo | title = Williams textbook of endocrinology | publisher = Elsevier | location = Philadelphia, PA | year = 2016 | isbn = 978-0323297387 }}=</ref>


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Hirsutism must be differentiated from other causes of irregular menses.
{| class="wikitable"
!Disease
!Differentiating Features
|-
![[Pregnancy]]
|
* 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)
* 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
|-
!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]]
|
* 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 absent, a chromosomal abnormality (eg, Turner syndrome ) or delayed puberty should be considered
|-
![[Cushing's syndrome|Cushing syndrome]]
|
* 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
* 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
|-
![[Hyperprolactinemia]]
|
* Mild hyperprolactinemia may occur as part of PCOS-related hormonal dysfunction
* 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)
* 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
* A large prolactinoma may cause headaches and visual field disturbance due to pressure on the optic chiasm, classically a gradually increasing bi-temporal hemianopsia
|-
!Ovarian or adrenal tumor
|
* Benign 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
* 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
* In patients with an androgen-secreting tumor, serum testosterone is not suppressed by dexamethasone
|-
![[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 diagnosis Assays of a variety of androgenic hormones help define other rare adrenal enzyme deficiencies, which present similarly to 21-hydroxylase deficiency
|-
!Anabolic steroid abuse
|
* 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
* Features include virilization (including acne and hirsutism), often increased muscle bulk in male pattern, oligomenorrhea or amenorrhea, clitoromegaly, gastritis, hepatic enlargement, alopecia, and aggression
* Altered liver function test results are seen
|-
![[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
|}
==References==
==References==
{{Reflist|2}}
{{Reflist|2}}

Revision as of 17:54, 31 October 2017

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: ; Ogheneochuko Ajari, MB.BS, MS [2], Rasam Hajiannasab M.D.[3], Ahmed Elsaiey, MBBCH [4]

Overview

Hirsutism must be differentiated based on the different diseases causing hirsutism such as 21-hydroxylase deficiency, 11-β hydroxylase deficiency, 3 beta-hydroxysteroid dehydrogenase deficiency, Polycystic ovary syndrome , Cushing's syndrome, and hyperprolactinemia.

Differential Diagnosis

The diagnosis of hirsutism requires the exclusion of related disorders with peripheral androgen activity. Hirsutism starts shortly after puberty with a slow course and progression. Hirsutism must be differentiated based on the different diseases causing hirsutism such as 21-hydroxylase deficiency, 11-β hydroxylase deficiency, 3 beta-hydroxysteroid dehydrogenase deficiency, Polycystic ovary syndrome , Cushing's syndrome, and hyperprolactinemia.[1][2][3]

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. ↑ 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)
  2. ↑ 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.
  3. ↑ Melmed, Shlomo (2016). Williams textbook of endocrinology. Philadelphia, PA: Elsevier. ISBN 978-0323297387.=

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