90: Hirsutism and Hypertrichosis Flashcards
What is hirsutism?
Hirsutism is a condition characterized by excessive terminal body hair growth in women, following a male pattern distribution. It is driven by elevated androgen levels and increased sensitivity of hair follicles to androgens.
How does hirsutism differ from hypertrichosis?
Hirsutism involves excessive hair growth in a male pattern distribution and is androgen-dependent. Hypertrichosis involves generalized excessive hair growth that is independent of androgens.
What are the main driving factors of hirsutism?
The main driving factors of hirsutism include elevated androgen levels and increased sensitivity of hair follicles to androgens.
What is the prevalence of hirsutism among women of reproductive age?
The prevalence of hirsutism is approximately 5% to 15% of the female population of reproductive age.
What are the phases of the hair growth cycle?
The hair growth cycle consists of three phases: 1. Anagen (growth phase) 2. Catagen (involution) 3. Telogen (rest phase)
How can hirsutism be categorized clinically?
Hirsutism can be categorized as primary or idiopathic and secondary hirsutism.
What are some signs of hyperandrogenism associated with hirsutism?
Signs of hyperandrogenism associated with hirsutism include acne, acanthosis nigricans, androgenetic alopecia, seborrheic dermatitis, and signs of virilization.
What is the significance of the hair growth cycle phases in the context of hirsutism?
The maturation of vellus hair to terminal hair is influenced by the activation of androgen receptors in the hair follicle, which is crucial in the development of hirsutism.
What does an abrupt onset of hirsutism indicate?
An abrupt onset of hirsutism should raise suspicion of malignancy.
What areas are most commonly involved in hirsutism?
The most commonly involved areas in hirsutism are the upper lip, thighs, lower abdomen, and upper back.
What is the modified Ferriman and Gallwey (mFG) scoring scale used for?
The modified Ferriman and Gallwey (mFG) scoring scale is a systematic tool for assessing the degree of hirsutism in nine body locations.
What characterizes idiopathic hirsutism?
Idiopathic hirsutism is characterized by hirsute patients who present with regular ovulation, normal to slightly elevated androgen levels, and no features suggesting other causes of hirsutism.
What is Polycystic Ovarian Syndrome (PCOS) and its significance in hirsutism?
Polycystic Ovarian Syndrome (PCOS) is the most common associated cause of hyperandrogenism in women of reproductive age and is a common secondary cause of hirsutism.
What are the clinical manifestations associated with HAIR-AN syndrome?
HAIR-AN syndrome is characterized by hyperandrogenism, insulin resistance, and acanthosis nigricans.
What is Saha syndrome and its manifestations?
Saha syndrome is characterized by seborrhea, acne, hirsutism, and androgenetic alopecia.
What does an mFG score of 16 indicate?
An mFG score of 16 indicates moderate to severe hirsutism.
What should be the primary concern with sudden onset of hirsutism and virilization?
Sudden onset of hirsutism and virilization raises suspicion of malignancy.
What are the diagnostic criteria for idiopathic hirsutism?
Idiopathic hirsutism is diagnosed in patients with regular ovulation, normal to slightly elevated androgen levels, and no features suggesting other causes.
What clinical features should raise suspicion of malignancy in a patient with hirsutism?
An abrupt onset of hirsutism should raise suspicion of malignancy.
What scoring system is used to evaluate the degree of hirsutism?
The modified Ferriman and Gallwey (mFG) scoring scale evaluates hirsutism in nine body locations, with scores ranging from 0 (no hair) to 4 (extensive hair growth).
What are the key clinical characteristics of Polycystic Ovarian Syndrome (PCOS) related to hirsutism?
PCOS is associated with chronic anovulation, insulin resistance, infertility, and other manifestations like acne and alopecia.
What is the relationship between hyperandrogenism and insulin resistance in HAIR-AN syndrome?
HAIR-AN syndrome is characterized by hyperandrogenism, insulin resistance, and acanthosis nigricans.
What are the common cutaneous manifestations associated with Saha syndrome?
Saha syndrome is characterized by seborrhea, acne, hirsutism, and androgenetic alopecia.
What is the biochemical hallmark of adrenal hyperplasia associated with hirsutism?
An elevated 17-OHP (17-hydroxyprogesterone) level is the biochemical hallmark of adrenal hyperplasia associated with hirsutism.
What are the common causes of hirsutism associated with adrenal tumors?
Adrenal tumors can secrete testosterone, dehydroepiandrosterone sulfate (DHEAS), and cortisol.
What diagnostic studies are recommended for evaluating hirsutism?
Diagnostic studies should focus on identifying the most likely cause, including testosterone or androstenedione measurements, and adrenal marker levels.
What should be considered if androgen excess is confirmed in a patient with hirsutism?
Further tests should include a pregnancy test, pelvic ultrasonography, measurement of DHEAS and early morning 17-OHP, and a prolactin level.
What psychological support should be offered to patients with hirsutism?
Patients should be evaluated for their social support, and psychological treatment should be offered when necessary.
What are the clinical features of SAHA syndrome?
SAHA syndrome includes seborrhea, acne, hirsutism, and androgenetic alopecia.
What is the likely diagnosis for a patient with elevated 17-OHP levels?
The likely diagnosis is nonclassic congenital adrenal hyperplasia (CAH).
What are the differences in hormone secretion between adrenal adenomas and adrenal carcinomas?
Adrenal adenomas secrete testosterone, while adrenal carcinomas secrete testosterone, DHEAS, and cortisol.
What are the clinical and biochemical features of late-onset congenital adrenal hyperplasia (CAH)?
Late-onset CAH presents with peripubertal hirsutism, oligomenorrhea, acne, infertility, and is characterized by elevated 17-OHP levels.
What are the potential causes of hirsutism associated with adrenal hyperplasia?
Potential causes include adrenal hyperplasia due to enzyme defects, late onset or nonclassic CAH, and adrenal tumors.
How should the evaluation of hirsutism be approached in a clinical setting?
The evaluation should include a detailed clinical history, a thorough physical examination, and diagnostic studies focusing on identifying the most likely cause.
What treatment options should be considered for patients with hirsutism?
Treatment options should include evaluation of social support systems and offering psychological treatment when necessary.
What is free testosterone used for?
Free testosterone is a sensitive marker of hyperandrogenism.
What tests are recommended if sudden onset hyperandrogenism is observed?
Further tests for adrenal markers (cortisol and DHEAS) and imaging studies are recommended.
What additional tests should be considered after confirming androgen excess?
Consider pregnancy tests, pelvic ultrasound, and prolactin levels.
What treatment options should be considered for patients with hirsutism?
Treatment options should include evaluation of social support systems, offering psychological treatment, consideration of lifestyle changes, medications, and surgical options for specific cases.
What is the role of lifestyle modification in managing hirsutism in patients with PCOS?
Lifestyle modification with weight loss and diet changes may improve insulin resistance, menstrual regularity, and hirsutism score in patients with PCOS.
What are the first-line medical therapies for hirsutism?
The first-line medical therapy for hirsutism is oral contraceptives (OCPs), usually in combination with antiandrogens such as spironolactone and flutamide.
How do antiandrogens work in the treatment of hirsutism?
Antiandrogens prevent androgen cellular action by blocking intracellular androgen receptors.
What is the significance of combining OCPs with an androgen antagonist in treating hirsutism?
Combining OCPs with an androgen antagonist is important because OCPs alone as monotherapy are not very effective for treating mild to moderate alopecia or hirsutism.
What are the potential side effects of cyproterone acetate?
Cyproterone acetate can cause steroidal side effects, abnormalities in liver function, and menstrual irregularity.
What is the mechanism of action of Eflornithine in treating unwanted facial hair in women?
Eflornithine works by inhibiting ornithine decarboxylase, which results in a shortening of the anagen phase of the hair growth cycle.
What lifestyle modifications and treatments can be recommended for a patient with PCOS experiencing hirsutism?
Lifestyle modifications such as weight loss and dietary changes can improve insulin resistance, menstrual regularity, and hirsutism scores. Medical treatments include oral contraceptives combined with antiandrogens.
What is the role of eflornithine in the treatment of hirsutism, and what are its side effects?
Eflornithine is a prescription medication that inhibits ornithine decarboxylase, shortening the anagen phase of the hair growth cycle. Side effects include burning or tingling of the treatment area.
What are the mechanisms of action and potential side effects of spironolactone?
Spironolactone acts as an aldosterone antagonist and blocks androgen receptors. Side effects include dysfunctional uterine bleeding.
What are the treatment options for hirsutism caused by nonclassic CAH?
Treatment options include oral contraceptives and antiandrogens. Glucocorticoids are recommended for women with suboptimal responses or those seeking ovulation induction.
What are the key lifestyle modifications recommended for patients with PCOS?
Key lifestyle modifications include weight loss, diet changes, and regular physical activity.
What are the primary methods for permanent hair reduction?
The primary methods are electrolysis and laser hair reduction.
What are the advantages and disadvantages of electrolysis?
Advantages include permanent hair reduction and effectiveness for all hair types. Disadvantages include potential scarring, risk of follicular hyperpigmentation, and pain.
How does laser hair removal compare to electrolysis in terms of treatment speed and pain?
Laser hair removal is generally less painful and quicker in treatment time compared to electrolysis.
What is hypertrichosis and how is it characterized?
Hypertrichosis is excessive hair growth for age, sex, or ethnicity in areas not considered male secondary characteristics.
What are the common causes of hypertrichosis?
Common causes include familial factors, medications, and metabolic disorders.
What is the regrowth rate of hair after electrolysis treatment?
The regrowth rate of hair after electrolysis treatment is approximately 40%.
What are the congenital forms of hypertrichosis?
Congenital forms can be localized or diffuse, including conditions like Congenital Hypertrichosis Lanuginosa and Cantú syndrome.
What are the associated conditions with congenital hypertrichosis?
Conditions include Ambras Syndrome, Cornelia de Lange Syndrome, and Mucopolysaccharidoses.
What is localized congenital hypertrichosis and its implications?
Localized congenital hypertrichosis includes types like hairy elbows and excess hair on the neck, which may indicate underlying neurologic deficits.
What are the clinical features of congenital hypertrichosis lanuginosa (CHL)?
CHL involves excessive lanugo hair over the body, sparing certain areas, and is associated with genetic abnormalities.
What are the clinical features of Cornelia de Lange syndrome associated with hypertrichosis?
Cornelia de Lange syndrome is characterized by severe mental retardation, limb abnormalities, and hypertrichosis.
What are the clinical features of Cantú syndrome associated with hypertrichosis?
Cantú syndrome is characterized by excessive hair growth and skeletal and cardiac abnormalities.
What are the clinical features of hypertrichosis cubiti (hairy elbows)?
Hypertrichosis cubiti involves excessive hair growth on the elbows and may be associated with neurologic deficits.
What are the clinical features of gingival fibromatosis with hypertrichosis?
This rare genetic syndrome is characterized by severe overgrowth of hair and gums.
What are the key characteristics of congenital hypertrichosis lanuginosa (Ambras syndrome)?
Ambras syndrome is characterized by excess lanugo hair remaining over the entire body after birth.
How does osteochondrodysplasia with hypertrichosis (Cantú syndrome) present in newborns?
It presents with thick scalp hair and excessive hair growth on the forehead, face, back, and extremities.
What are the features of Cantú syndrome in newborns?
Cantú syndrome presents in newborns with thick scalp hair and excessive hair growth on the forehead, face, back, and extremities. Some newborns may have thick or curly eyelashes. Associated findings include skeletal abnormalities and various cardiac abnormalities. Diagnosis is confirmed by detection of a heterozygous pathogenic variant in ABCC9 or KCNJ8.
What should be assessed when localized congenital hypertrichosis is found in the midline?
It is imperative to look for underlying neurologic deficits and assess for spinal deformities, particularly if associated with conditions like spinal dysraphism or faun tail deformity.
What are the associated conditions with gingival fibromatosis and hypertrichosis?
Gingival fibromatosis with hypertrichosis is associated with severe overgrowth of hair and gums and is considered a rare genetic syndrome. Other syndromes that may have associated hypertrichosis include Hurler syndrome, Hunter syndrome, and Sanfilippo syndrome.
What are the common metabolic disorders associated with acquired hypertrichosis?
The most common metabolic disorders associated with acquired hypertrichosis include Porphyria cutanea tarda, Erythropoietic porphyria (Gunther disease), Hereditary coproporphyria, and Variegate porphyria.
What are the depilatory methods for hair removal mentioned in the treatment of hypertrichosis?
Depilatory methods for hair removal include shaving, waxing, sugaring, threading, tweezing, and chemical depilation. These methods are temporizing and can cause mild to moderate pain or irritation of the treated skin.
What are the more permanent hair removal options for hypertrichosis?
For more permanent hair removal, the following methods can be used: Electrolysis and Laser hair removal. It is important to note that laser hair epilation can rarely lead to paradoxical hypertrichosis.
What are the clinical features of paradoxical hypertrichosis following laser hair removal?
Paradoxical hypertrichosis involves excessive hair growth in treated areas following laser hair removal. It is a rare side effect of laser epilation.
What are the clinical findings of idiopathic hirsutism (IH)?
Patients with idiopathic hirsutism often present with regular ovulation and normal to slightly elevated androgen levels, along with mild to moderate hirsutism.
What are the clinical findings of polycystic ovarian syndrome (PCOS) related to hirsutism?
PCOS is characterized by hyperandrogenism, menstrual irregularities (including oligomenorrhea, amenorrhea, and infertility), and may include cutaneous findings of acanthosis nigricans in 5% of obese women with insulin resistance.
What is the significance of HAIR-AN in relation to hirsutism?
HAIR-AN stands for Hyperandrogenism, Insulin resistance, and Acanthosis nigricans. It is considered a subtype of PCOS with elevated insulin levels and high-normal levels of testosterone and androstenedione.
What are the findings associated with hyperprolactinemia in hirsutism?
Hyperprolactinemia presents with amenorrhea, galactorrhea, and infertility, and is associated with stress, pituitary adenoma, pregnancy, drug intake, and primary hypothyroidism.
What are the common causes of hirsutism during pregnancy?
Common areas involved are the upper abdomen, lower abdomen, lower back, upper lip, and thighs, associated with physiological changes of pregnancy.
What are the clinical implications of Cushing syndrome in relation to hirsutism?
Cushing syndrome may present with centripetal fat distribution, thinning of the skin with striae, glucose intolerance, osteoporosis, and proximal muscle weakness, along with signs of hyperandrogenism and menstrual irregularities.
What is the relationship between acromegaly and hirsutism?
Patients with acromegaly can present with abnormal growth of the hands and feet, arthritis, sleep apnea, and impaired vision, with elevated random serum GH and IGF-1 levels.
What are the clinical implications of hyperandrogenism in patients with Polycystic Ovarian Syndrome (PCOS)?
In patients with PCOS, hyperandrogenism is associated with menstrual irregularities and can lead to insulin resistance, increasing the risk for type 2 diabetes mellitus.
How does hirsutism in patients with Nondisjunction Congenital Adrenal Hyperplasia (NCAH) differ from those with Idiopathic Hirsutism (IH)?
Patients with NCAH present with accelerated bone age maturation and increased levels of 17-hydroxyprogesterone, while those with IH typically have regular ovulation and slightly elevated androgen levels.
What is the significance of elevated random serum GH and IGF-1 levels in the context of hirsutism associated with Acromegaly?
Elevated random serum GH and IGF-1 levels in acromegaly can lead to hirsutism due to increased androgen production and metabolic changes.
What is the purpose of the Ferriman-Gallwey scale?
The Ferriman-Gallwey scale is used to assess hirsutism in women by evaluating hair growth in various body areas, assigning scores based on the amount of hair present.
Which body areas are evaluated in the Ferriman-Gallwey scale?
The Ferriman-Gallwey scale evaluates hair growth in the upper lip, chin, chest, abdomen, pelvis, upper arms, thighs, upper back, and lower back.
How is hair growth categorized in the Ferriman-Gallwey scale?
Hair growth is categorized into four grades (1 to 4), where 1 indicates minimal hair growth, 2 indicates moderate hair growth, 3 indicates significant hair growth, and 4 indicates excessive hair growth.
How can the Ferriman-Gallwey scale be utilized in the clinical assessment of hirsutism severity?
The Ferriman-Gallwey scale assigns a score from 1 to 4 for each evaluated area, helping to quantify hirsutism severity and guide treatment decisions.
What is the significance of using the Ferriman-Gallwey scale in differentiating between hirsutism and hypertrichosis?
The Ferriman-Gallwey scale helps differentiate hirsutism from hypertrichosis by assessing hair growth patterns in androgen-dependent areas, aiding in identifying underlying causes.
What is the initial step in the approach to a patient with hirsutism regarding menstrual cycle regularity?
Assess if the patient has a regular menstrual cycle (ovulatory). If yes, differentiate between idiopathic hirsutism and idiopathic hyperandrogenism; if no, consider secondary causes.
What should be considered if a patient with hirsutism presents with sudden onset and/or virilization?
Consider the possibility of malignancy and perform imaging studies to rule out adrenal and pelvic masses if testosterone levels are elevated.
What are some secondary causes of hirsutism that should be excluded in the diagnostic approach?
Secondary causes to exclude include Cushing syndrome, SAHA, hyperprolactinemia, pregnancy, and HAIR-AN.
What laboratory tests are indicated for evaluating hirsutism in patients with elevated testosterone levels?
Tests may include TSH, GH, 17-OH progesterone, LH, FSH, and GTT to assess for insulin resistance.
What is the initial step in the approach to a patient presenting with hirsutism and regular menstrual cycles?
The initial step is to differentiate between idiopathic hirsutism and idiopathic hyperandrogenism.
In a patient with hirsutism and sudden onset of symptoms, what should be considered as a potential cause?
Consider malignancy, particularly if imaging studies reveal an adrenal or pelvic mass with elevated testosterone levels.
What secondary causes should be excluded in a patient with hirsutism who has elevated testosterone levels?
Secondary causes to exclude include Cushing syndrome, SAHA, hyperprolactinemia, pregnancy, and HAIR-AN.
What laboratory tests are indicated for a patient with hirsutism and suspected hypothyroidism?
Elevated TSH levels should be checked to assess for hypothyroidism as a potential cause of hirsutism.
What is the significance of a positive GTT result in a patient with hirsutism?
A positive GTT result may indicate hyperprolactinemia as a contributing factor to hirsutism.
What is the mechanism of action of oral contraceptive pills (OCPs) in the treatment of hirsutism?
OCPs suppress ovarian androgen synthesis and increase sex hormone-binding globulin (SHBG).
What are the common adverse effects associated with Spironolactone when used for hirsutism treatment?
Adverse effects include polyuria, hypotension, headaches, fatigue, syncope, hyperkalemia, irregular menses, and decreased libido.
What is the recommended dosage for Flutamide in the treatment of hirsutism?
Flutamide is typically prescribed at a dosage of 625-250 mg twice daily.
What are the contraindications for using Glucocorticoids in the treatment of hirsutism?
Glucocorticoids are not recommended in patients with uncontrolled diabetes and hypertension.
What is the mechanism of action of Finasteride in the treatment of hirsutism?
Finasteride inhibits 5-alpha reductase, which decreases androgen levels.
What are the starting dosages and potential adverse effects of Spironolactone in treating hirsutism?
Starting dosage is 50 mg twice daily, which may be increased to a total daily dose of 200 mg. Adverse effects include polyuria, hypotension, headaches, fatigue, syncope, hyperkalemia, irregular menses, and decreased libido.
What is the recommended dosage and potential adverse effects of Finasteride for hirsutism treatment?
The recommended dosage is 1-5 mg by mouth. Potential adverse effects include headaches and decreased libido.
How does the mechanism of action of Ketoconazole differ from that of Spironolactone in the treatment of hirsutism?
Ketoconazole acts as a cytochrome P450 enzyme inhibitor, decreasing adrenal steroid production, while Spironolactone is a competitive inhibitor of androgen receptor and decreases androgen synthesis.
What are the pregnancy categories for the medications listed in the treatment of hirsutism?
Medications like Finasteride and GnRH agonists are categorized as Pregnancy Category X, indicating they are contraindicated in pregnancy to prevent potential teratogenic effects.
What are the congenital disorders associated with hypertrichosis?
The congenital disorders associated with hypertrichosis include various genetic syndromes.
What is the role of Spironolactone in hirsutism treatment?
Spironolactone is a competitive inhibitor of androgen receptor and decreases androgen synthesis.
What are the pregnancy categories for medications used in hirsutism treatment?
Medications like Finasteride and GnRH agonists are categorized as Pregnancy Category X, indicating they are contraindicated in pregnancy. This is important to prevent potential teratogenic effects on the fetus.
What are the congenital disorders associated with hypertrichosis?
Congenital disorders associated with hypertrichosis include:
- Congenital hypertrichosis lanuginosa
- Congenital generalized hypertrichosis
- Cantu syndrome
- Ganglial inflammations with hypertrichosis
- Cornelia de Lange syndrome
- Macropoly syndactyly disorders
- Huler Syndrome
- Hunter Syndrome
- Sanfilippo Syndrome
- Stiff skin syndrome
- Winchester syndrome
- Rubinstein-Taybi syndrome
- Schinzel-Giedion syndrome
- Barber-Say syndrome
- Coffin-Siris syndrome
- Lawrence-Seip syndrome
- Hemimelia/oligodactyly
- Craniofacial dysostosis
- Hypomelanosis of Ito
- Spinal dysraphism
- Faun tail deformity
- Congenital nevocellular nevi
- Congenital Becker nevus
- Nevoid hypertrichosis
- Underlying neurofibromas
- Hypertrichosis cubiti
- Hemihypertrophy
- Hairy congenital malformation of palms and soles
- Hairy pinnae
- Anterior cervical hypertrichosis
What metabolic disorders can lead to hypertrichosis?
Metabolic disorders that can lead to hypertrichosis include:
- Thyroid disorders
- Anorexia nervosa
- Porphyria
- Malignancy
- Fetal alcohol syndrome
- Malnutrition
Which medications are known to cause hypertrichosis?
Medications known to cause hypertrichosis include:
- Dilantin
- Cyclosporine
- Glucocorticoids
- Minoxidil
- Dazocile
- Phenytoin
- Danazol
- Penicillamine
- Porfimer
- Streptomycin
- Isotretinoin
- Cetuximab
- Testosterone
- Valproic acid
- Topical prostaglandin inhibitors
What are some acquired causes of hypertrichosis?
Acquired causes of hypertrichosis include:
- Post laser hair removal
- Local pressure or inflammation (e.g., cats, lichen simplex, biting, insect bites)
- Human immunodeficiency virus (HIV)
- Acrodynia
- Infection
- Dermatomyositis
What are the congenital disorders associated with diffuse hypertrichosis?
Congenital disorders associated with diffuse hypertrichosis include:
- Congenital hypertrichosis lanuginosa
- Congenital generalized hypertrichosis
- Cantu syndrome
- Ganglial inflammations with hypertrichosis
- Cornelia de Lange syndrome
- Macropolycythemia disorders
- Huler Syndrome
- Hunter Syndrome
- Sanfilippo Syndrome
- Stiff skin syndrome
- Winchester syndrome
- Rubinstein-Taybi syndrome
- Schinzel-Giedion syndrome
- Barber-Say syndrome
- Coffin-Siris syndrome
- Lawrence-Seip syndrome
- Hemimelia/oligodactyly
- Craniofacial dysostosis
- Hypomelanosis of Ito
- Spinal dysraphism
- Faun tail deformity
- Congenital nevocellular nevi
- Congenital Becker nevi
- Smooth muscle hamartoma
- Nevoid hypertrichosis
- Underlying neurofibromas
- Hypertrichosis cubiti
- Hemihypertrophy
- Hairy congenital malformation of palms and soles
- Hairy pinnae
- Anterior cervical hypertrichosis
What are the metabolic disorders that can lead to hypertrichosis?
Metabolic disorders that can lead to hypertrichosis include:
- Thyroid disorders
- Anorexia nervosa
- Porphyria
- Malignancy
- Fetal alcohol syndrome
- Malnutrition
List the medications that are known to cause hypertrichosis.
Medications known to cause hypertrichosis include:
- Dilantin
- Cyclosporine
- Glucocorticoids
- Minoxidil
- Dazocile
- Phenytoin
- Danazol
- Anabolic steroids
- Penicillamine
- Porfimer
- Streptomycin
- Hotetoin
- Cetuximab
- Testosterone
- Valproic acid
- Topical prostaglandin inhibitors
What are some acquired causes of hypertrichosis?
Acquired causes of hypertrichosis include:
- Post laser hair removal
- Local pressure or inflammation: cats, lichen simplex, biting, insect bites
- Human immunodeficiency virus: trichomegaly
- Acrodynia
- Infection
- Dermatomyositis
