Gender- and sexuality-related disorders

Sexual dysfunctions are a group of physical and psychiatric disorders characterized by clinically significant difficulty in experiencing sexual pleasure (e.g., genito-pelvic pain/penetration disorder) or responding to sexual stimuli (e.g., erectile disorder, premature ejaculation). To diagnose psychosexual dysfunctions, the dysfunction must persist for at least 6 months, cause clinically significant distress in the individual, and not be attributable to another mental disorder (e.g., major depressive disorder, anxiety), severe relationship stress, use of substances/medications, or to any medical conditions (e.g., cardiovascular disease, diabetes mellitus). The most common organic sexual dysfunction is erectile dysfunction, which is characterized by the inability to achieve or sustain an erection sufficient in rigidity or duration for sexual intercourse. Organic causes are diverse and include vascular, neurological, and hormonal conditions. If the dysfunction is not attributable to substances/medications, severe relationship stress, or an organic cause, the psychiatric diagnosis of erectile disorder, described in the DSM-V, is made. Dyspareunia is pain that occurs during or after sexual intercourse, affects up to 20% of women, and is associated with various organic conditions.

Paraphilic disorders are a group of psychiatric disorders characterized by abnormally intense and persistent sexual interests that manifest as urges, fantasies, or behaviors and involve a nonconsenting individual or cause significant distress or functional impairment in the affected individual. These disorders are distinct from paraphilias, which are also characterized by intense and persistent sexual interests, however, they do not cause significant distress or functional impairment.

Gender dysphoria is diagnosed in patients who experience significant distress caused by an incongruity between their experienced gender and their sex assigned at birth. Gender diverse identities (e.g., transgender, bigender, agender) are not disorders, but individuals may experience distress in the processes of affirming their identity, leading up to gender dysphoria.

For congential conditions affecting sex, see “Differences (disorders) of sex development.”

Sexual dysfunctions are a group of physical and psychiatric disorders characterized by clinically significant difficulty in experiencing sexual pleasure, responding to sexual stimuli, and/or performing sexually. The etiology is often complex, involving organic and psychological factors. See “Sexual response cycle” in “Sexuality and sexual medicine” for details on the physiological sexual response.

Diagnostic criteria (DSM-V) ^[1]

• The symptoms are present for at least 6 months.
• The condition causes clinically significant distress in the individual.
• The dysfunction is not attributable to another mental disorder (e.g., major depressive disorder, anxiety), severe relationship stress, use of substances/medications, or to any medical conditions (e.g., cardiovascular disease, diabetes mellitus).
• Presence of additional condition-specific criteria listed below.

The most common sexual disorder in men is erectile disorder, followed by premature ejaculation; the two disorders commonly occur concomitantly. In women, the most common disorders are sexual interest/arousal disorder and female orgasmic disorder.

Contributing factors to consider in diagnosis and treatment

• Factors in patient history,; e.g., poor body image; , low self-esteem, history of sexual or emotional abuse, stressors, bereavement
• Relationship and partner factors, e.g., partner's sexual and medical health, poor communication, discrepancies in sexual interest and arousal
• Psychiatric comorbidities, e.g., major depressive disorder, anxiety
• Nonpsychiatric conditions and lifestyle factors, e.g., diabetes mellitus, tobacco use, insufficient physical exercise
• Cultural or religious factors, e.g., level of sexual education, negative attitudes toward sexuality
• Penile hypersensitivity and hyperexcitability of the reflex arc (for premature ejaculation)

Differential diagnoses

• Inadequate sexual stimulation
• Organic conditions
  • Endocrinopathy; (e.g., decreased testosterone levels, diabetes mellitus, hypothyroidism)
  • Nerve damage (e.g., damage to the spinal cord due to trauma or pelvic surgery, multiple sclerosis)
  • Cardiovascular disease (e.g., ischemia due to atherosclerosis)
• Specific differential diagnoses
  • Erectile dysfunction due to organic causes (for erectile disorder)
  • Dyspareunia due to organic causes (for genito-pelvic pain/penetration syndrome)
• Other psychiatric disorders
  • Major depressive disorder
  • Anxiety
• Substance and/or medication-induced sexual dysfunction
  • Severe disturbance in sexual function that occurs during or soon after substance intoxication, withdrawal, or after exposure to a medication that is capable of causing sexual dysfunction
  • Examples: SSRIs, antipsychotics, antihypertensives, opioids, alcohol, cocaine
  • Management
    • Reduce dose or discontinue medication
    • See “Substance-related and addictive disorders” for details regarding the management of specific substance intoxication or withdrawal

References:^[1][4]

Definition

A condition characterized by a persistent or recurrent inability to acquire or maintain an erection of sufficient rigidity or duration for sexual intercourse due to substances/medications, organic, and/or psychogenic causes.

Epidemiology

• The most common form of sexual dysfunction in men
• Affects 10–25% of men
• Becomes more common with age

Etiology

Often involves a combination of organic and psychogenic risk factors.

• Organic
  • Cardiovascular disease, arterial hypertension, Leriche syndrome, hyperlipidemia, smoking
  • Diabetes mellitus
  • Neurological conditions
    • Stroke
    • Brain or spinal cord injury
    • Dementia
    • Parkinson disease
    • Multiple sclerosis
    • Diabetic neuropathy
  • Endocrine conditions
    • Hypogonadism
    • Hyperprolactinemia
    • Thyroid disorders
  • Peyronie disease
  • Surgery or radiotherapy (radical prostatectomy, pelvic radiation)
  • Trauma: pelvic fracture, urethral injury, penile fracture
• Psychogenic
  • Performance-related anxiety
  • Stressors e.g., relationship issues, previous traumatic experiences, religious taboos
  • Depressive disorder, PTSD, generalized anxiety
• Medication adverse effects
  • Antihypertensives; (beta-blockers, thiazide diuretics)
  • Antidepressants (SSRIs)
  • Dopamine antagonists (e.g., antipsychotics): increased prolactin secretion (anterior pituitary) → decreased GnRH secretion (hypothalamus) → decreased LH secretion (anterior pituitary) → decreased testosterone production (Leydig cells) → hypogonadotropic hypogonadism
• Substance abuse: heavy alcohol use, recreational drug use

PENIS: most common causes of erectile dysfunction are Psychological, Endocrine, Neurogenic, Insufficient blood flow, Substance use.

Clinical features

• Failure to initiate, failure to fill, or failure to maintain an erection during sexual intercourse
• A sudden onset generally indicates psychogenic etiology (e.g., performance anxiety with a new sexual partner).
• The difficulty can be generalized or situation-specific (e.g, with one partner)

Diagnosis ^[1]

• Primarily a clinical diagnosis
• Detailed patient history
  • International index of erectile dysfunction (IIEF): a validated instrument used to evaluate sexual function ^[5]
  • Childhood and sexual diseases
  • Medical history, medications: diabetes, peripheral vascular disease, prior urological conditions
  • Psychosocial history: recent life changes, stressors
• Clinical exam
  • Genitourinary exam: signs of hypogonadism (small testes, loss of secondary sexual characteristics)
  • Cardiovascular exam: abnormal pulses
  • Neurological exam: cremasteric reflex, anal tone, lower extremity sensation
• Further tests to identify the underlying cause(s) ^[6]
  • Endocrinological laboratory analysis
    • ↓ Testosterone; , ↑ SHBG, ↑ prolactin, ↓ LH, ↓ FSH
    • ↑ or ↓ TSH
    • ↑ Fasting glucose or hemoglobin A1C
    • Abnormal lipid profile
  • Nocturnal penile tumescence measurement (phallography): measurement of spontaneous nightly erections to differentiate between organic and psychogenic erectile dysfunction (typically performed in a sleep laboratory)
    • Absence of nocturnal erections suggests an organic etiology (neurogenic or vascular)
    • Normal testing suggests a psychogenic cause that warrants further psychiatric workup
  • Pudendal nerve conduction studies with somatosensory evoked potentials

Treatment ^[7]

• Phosphodiesterase-5 inhibitors (first-line therapy)
  • Examples: oral tadalafil, sildenafil, vardenafil
  • Mechanism of action:inhibition of the phosphodiesterase type 5 enzyme; → ↑ cGMP results in prolonged smooth muscle relaxation → increased intracavernosal NO-induced vasodilation and blood flow in the corpora cavernosa → increase in penis size during an erection
  • Most effective in patients with erectile dysfunction due to cardiovascular disease
  • Contraindicated in patients taking nitrates due to high risk of profound hypotension
  • PDE-5 inhibitors may cause orthostatic hypotension in patients taking alpha-adrenergic antagonists (e.g., for BPH) and should, therefore, be taken at least 4 hours apart
• Second-line therapy options: if PDE-5 inhibitors are ineffective
  • Vacuum-assisted erectile device
    • A noninvasive, external device that is used prior to sexual intercourse to achieve an erection
    • A hollow cylinder with an attached vacuum pump is placed onto the penis and a vacuum is created to draw blood into the corpora cavernosa; once an erection sufficient for sexual intercourse is reached, a penis ring is placed around the shaft of the penis, which acts as an outflow obstruction
  • Intracavernous injection therapy: self-injectable drugs that are administered directly into the corpus cavernosum prior to sexual intercourse to induce an erection
    • Examples
      • Alprostadil: a prostagladin E1 compound that causes vasodilation by directly inducing vascular smooth muscle relaxation
      • Papaverine: an opium alkaloid drug with antispasmodic effects; leads to vasodilation through smooth muscle relaxation
    • Adverse effects: priapism
• Penile prosthesis
  • Surgical implantation of an inflatable implant (two hollow cylinders) into the corpora cavernosa, and a saline reservoir and pump into the scrotum
  • Indications
    • First-line and second-line therapy options have failed
    • Peyronie disease
• Testosterone replacement if patient serum testosterone is low (e.g., in hypogonadism)
• Psychotherapy, education, exercises, and/or couples counseling for patients with psychogenic factors contributing to erectile dysfunction

Definition

• Dyspareunia: pain that occurs during or after sexual intercourse and is due to organic and/or psychogenic factors ^[8]
• Genito-pelvic pain/penetration disorder (defined by the American Psychiatric Association in the DSM-V): an umbrella term for female sexual pain (pelvic or vulvovaginal pain that is precipitated or exacerbated by sexual contact) that is not attributable to another mental disorder, severe relationship stress, use of substances/medications, or to any medical conditions.

Etiology ^[8][9]

• Psychogenic factors
  • Severe relationship stress, intimate partner violence
  • Lack of desire/arousal
• Organic factors
  • Superficial dyspareunia: pain limited to the vulvar or vaginal entrance
    • Vulvodynia
      • A condition of chronic vulvar pain without a clearly identifiable underlying cause.
      • Most common cause of dyspareunia in women < 50 years
    • Vaginal dryness due to inadequate lubrication (e.g., due to insufficient sexual stimulation, anxiety about sexual activities, medication side effects)
    • Vulvovaginal atrophy
    • Vulvovaginitis
    • Genital lichen planus, lichen sclerosus
    • Perineal laceration, episiotomy, and/or perineal repair
    • Congenital anomalies (e.g., hymenal variants)
    • Urethral diverticulum
    • Female circumcision
  • Deep dyspareunia: pain in deeper parts of the vagina or the lower pelvis
    • Infection (e.g. pelvic inflammatory disease, urinary tract infections)
    • Congenital anomalies (e.g., vaginal septae)
    • Endometriosis
    • Interstitial cystitis

Clinical features ^[8][9]

• Superficial or deep pain before, during, or after sexual intercourse
• Pain is often reproducible e.g., during any sexual activity involving the genitals, gynecologic exams (e.g., speculum insertion), insertion of a tampon or menstrual cup
• Chronic vulvar pain, burning, and irritation may indicate an underlying vulvovaginal condition e.g., vulvodynia, vulvovaginal atrophy

Diagnosis

• Complete patient history and physical exam
• Gynecologic examination: inspection, palpation of the external genitals with a cotton swab to elicit pain, careful palpation of the vaginal walls

Diagnostic criteria

Persistent or recurrent difficulty with ≥ 1 of the following:

• Vaginal penetration during sexual intercourse
• Severe vulvovaginal or pelvic pain during vaginal intercourse or attempted penetration
• Severe anticipatory anxiety related to vulvovaginal or pelvic pain during attempted vaginal intercourse or attempted penetration
• Severe tightening of pelvic floor muscles during attempted vaginal penetration

Management

• Treatment of the underlying cause (e.g., vaginal estrogen therapy for vulvovaginal atrophy)
• Symptomatic management
  • Topical analgesics (e.g., lidocaine or lidocaine-prilocaine ointment) applied to the vaginal vestibule 10 minutes prior to intercourse
  • Nonhormonal vaginal moisturizers and lubricants
• Pelvic floor physical therapy: considered best initial treatment option; ; consists of a combination of modalities, such as patient education, internal manual techniques, dilatation exercises, local tissue desensitization, and home exercises (e.g., Kegel exercises).
• Psychotherapy
• Anxiolytic drugs: in conjunction with other therapeutic modalities
• Local botox injections for refractory cases

Definition

• A group of psychiatric disorders characterized by abnormally intense and persistent sexual interests and desires; (manifested as urges, fantasies, or behaviors) accompanied by significant distress or functional impairment and/or harm to others
  • Paraphilias are variations in sexual preference that may manifest as urges, behaviors, and/or fantasies. Paraphilias are not always pathological, and a paraphilic disorder should only be considered if they interfere negatively with a patient’s life and/or that of others.
• Paraphilias and paraphilic disorders are not inherently criminal offenses, but acting on them may constitute sexual assault, rape, or another crime, especially when nonconsenting individuals are involved.

Diagnostic criteria (according to DSM-V)

• Presence of abnormally intense and persistent sexual interests occur over a period of at least 6 months as specified by condition below.
• Presence of significant distress, impairment in important areas of functioning (e.g., social, occupational), and/or acts directed against nonconsenting individuals
• Presence of additional condition-specific criteria listed below

Treatment

• Psychotherapy and cognitive behavioral therapy
• Group therapy
• 12-step program (Sexaholics Anonymous) ^[10]
• Social skills training
• Pharmacological treatment to suppress sex drive (e.g., antiandrogens, antidepressants such as SSRIs, mood stabilizers)

References:^[1][4]

Definition

• Gender dysphoria refers to the distress caused by the incongruity between gender identity and sex assigned at birth and not the experience of incongruity itself.
• Affected individuals have difficulties in multiple areas of function (e.g., social, academic) due to the incongruity between experienced gender and sex assigned at birth.
• Gender dysphoria should not be confused with a transgender identity, the affirmation of which may require psychiatric treatment for associated distress (e.g, due to discrimination) and medical treatment in the course of gender transition but is not considered a disorder in its own right.

Diagnostic criteria

Management ^[11]

• Goal: Alleviate the distress and reduce impairment of function associated with gender dysphoria and help the individual find a gender identity that they feel comfortable with.
  • It is not to help the patient overcome the experience of incongruity by accepting the gender assigned at birth.
• Approach:
  • Should be individualized to the patient.
  • It can involve one or more treatment options depending on the patient's preference and goals (e.g., integrating the experienced gender identity and the gender assigned at birth, changing gender expression, physically changing primary and secondary sex characteristics).
  • All individuals should undergo evaluation by a multidisciplinary team specializing in gender identity.
  • A comprehensive biopsychosocial assessment should occur before starting any therapies.
  • Assessments should involve parents or guardians unless their involvement is not feasible or determined to be harmful to the individual.
  • It is recommended that gender-affirming medical or surgical treatments be considered if requested by adults or adolescents with confirmed gender dysphoria (or gender incongruence based on ICD-11 or similar) when:
    • Gender dysphoria is consistent and persistent over time.
    • Individuals exhibit the emotional and cognitive maturity necessary to provide informed consent/assent for the treatment.
    • Mental health issues that might interfere with diagnostic clarity, informed consent, and gender-affirming treatments have been addressed.
    • Patients have been informed of benefits and risks, including reproductive effects along with fertility preservation options. For adolescents, they have been discussed in relation to the adolescent's puberty stage.
    • Adolescents have reached Tanner stage 2 of puberty to start puberty suppression.
    • Adolescents have undergone 12+ months of gender-affirming hormone therapy for desired gender-affirming surgeries unless hormone therapy is unwanted or medically contraindicated.
  • For any patients wishing to detransition, a multidisciplinary team should conduct a thorough assessment and approach that is aligned with understanding the patient's need and provide support throughout the process and social transition.
  Treatment options
  • Gender expression that is congruent with the person's gender identity; this can entail part- or full-time changes in clothing, breast binding, breast padding, genital tucking, genital padding, hair removal (via e.g., waxing, laser treatment), and identity document changes (e.g., name, gender markers)
  • Psychotherapy
    • Focus on reducing distress associated with gender dysphoria by exploring gender identity and expression, addressing the negative effects, stigmas, and internalized fears related to the experienced incongruity, and promoting resilience and positive body image
    • Provide support before, during, and after gender-affirming therapy
  • Hormone therapy
    • Gender-affirming hormone therapy
      • Estrogen or antiandrogen therapy to feminize transgender women (i.e., increase body fat, reduce male hair pattern growth, induce breast growth)
      • Testosterone therapy to masculinize transgender men (i.e., increase growth of facial and body hair, induce deepening of the voice, suppress breast growth and menstruation)
    • Puberty suppression with GnRH analogs to prevent the unwanted development of secondary sex characteristics of the sex assigned at birth
  • Gender-affirming surgery
  • Other interventions
    • Peer support groups
    • Communication and voice therapy

A transgender or gender diverse identity is not a mental disorder but may cause distress potentially leading to psychiatric disorders due to stigma, discrimination, and/or a sense of mismatch between gender assigned at birth and gender identity (e.g., gender dysphoria).

References:^[1][4][12]