Sexual dysfunction and Infertility (male and female): 1.Order and interpret relevant investigations of Sexual dysfunction and Infertility 2. Describe differential diagnosis of Sexual dysfunction and Infertility Notes on male and female infertility including these points

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Sexual Dysfunction and Infertility: Clinical Notes

Part 1 - Sexual Dysfunction

Definition and Classification

Sexual functioning involves interactions among the physical, mental, and emotional aspects of an individual. The DSM-5 framework is used to classify sexual dysfunctions. To qualify as a "disorder," the condition must cause clinically significant distress. If an individual's sexual response is outside statistical norms but causes no distress, it is not classified as a disorder.

DSM-5 subtypes describe:

Lifelong vs. Acquired onset
Generalized vs. Situational (only with specific stimulation, partner, or context)
Severity: Mild / Moderate / Severe (based on distress)

Factors to Consider in Evaluation

Before diagnosing sexual dysfunction, the clinician must evaluate:

Partner factors - partner's sexual response or level of involvement
Relationship factors - communication quality, emotional abuse
Individual vulnerability - body image, psychiatric comorbidity (depression, anxiety), life stressors (unemployment)
Cultural or religious factors
Medical factors - physical disability, medications

Rule out that the dysfunction is not better explained by a non-sexual mental health disorder or by a medication/substance effect.

Female Sexual Dysfunction

Types (DSM-5)

1. Female Sexual Interest/Arousal Disorder (FSIAD)

Low sexual desire is the most common female sexual problem - 4 in 10 women report it.

Diagnostic Criteria (at least 3 of 6 for ≥6 months)
Absent or reduced interest in sexual activity
Absent or reduced sexual/erotic thoughts or fantasies
No or reduced initiation; unreceptive to partner's attempts
Absent or reduced excitement/pleasure during activity
Absent or reduced interest in response to sexual/erotic cues
Absent or reduced genital or nongenital sensations during activity

DSM-5 recognizes the interaction between desire and arousal as the trigger for a woman's sexual response.

2. Female Orgasmic Disorder

Difficulty or inability to achieve orgasm despite adequate stimulation.

3. Genito-Pelvic Pain/Penetration Disorder (GPPPD)

Prevalence: 12-21% in the United States. Presents as:

Pain/difficulty with vaginal penetration (intercourse, digital stimulation, tampons, pelvic exam)
Visible pelvic floor muscle contraction on anticipated speculum exam
Anatomic abnormalities may be found (vaginal septa)

History clue: Pain on tampon insertion before sexual activity may be an early risk factor.

Investigations for Female Sexual Dysfunction

Detailed psychosexual and medical history
Physical examination - genitalia, pelvic floor muscle assessment
Hormonal panel: FSH, LH, estradiol, prolactin, TSH, testosterone (especially in peri/postmenopausal women or those with low desire)
Pelvic examination to exclude structural/infective causes
Psychological screening: PHQ-9 (depression), GAD-7 (anxiety)

Differential Diagnosis - Female Sexual Dysfunction

Condition	Key Feature
Hypothyroidism/hyperthyroidism	Low libido, fatigue, anovulation
Hyperprolactinemia	Low desire, galactorrhea, amenorrhea
Hypogonadism (estrogen deficiency)	Vaginal atrophy, dyspareunia, low libido
Depression	Global loss of desire, anhedonia
PTSD/sexual trauma	Situational pain/avoidance
Relationship dysfunction	Situational, partner-specific
Medication-induced (SSRIs)	Delayed or absent orgasm, low desire
Vaginitis / pelvic infection	Dyspareunia, discharge
Endometriosis	Deep dyspareunia, cyclical pain
Pelvic floor dysfunction / vaginismus	Penetration pain/spasm

SSRIs delay or inhibit orgasm in women - an important medication side effect to recognize.

Male Sexual Dysfunction

Erectile Dysfunction (ED)

Definition: Inability for a male to achieve a penile erection sufficient for sexual function. DSM-5 requires clinically significant distress not explained by another mental health disorder or substance.

Physiology of Erection:

Parasympathetic stimulation → nitric oxide (NO) release from noradrenergic, noncholinergic nerves and endothelial cells
NO → increases intracellular cGMP → cavernosal smooth muscle relaxation → rapid blood flow → emissary vein occlusion → erection
PDE-5 catalyzes cGMP breakdown; PDE-5 inhibitors (e.g., sildenafil) increase cGMP
Four systems required: vascular, neurologic, endocrine, psychological

Prevalence increases with age:

Ages 40-49: 2%
Ages 50-59: 6%
Ages 60-69: 17%
Age ≥70: 39%

Investigations for ED

History (similar to cardiovascular risk assessment - "what is bad for the heart is bad for the penis"):

Cardiovascular risk factors (diabetes, hypertension, dyslipidemia, smoking)
Medication review (see table below)
Psychosocial: depression, anxiety, relationship issues, alcohol, recreational drugs
Neurologic symptoms, endocrine symptoms (hypogonadism signs)

Physical Examination:

Peripheral pulses and carotid bruits (vascular)
Thyroid examination
Genitourinary exam - Peyronie's plaques, testicular atrophy
Neurologic: anal sphincter tone, perianal sensation, bulbocavernosus reflex
Signs of hypogonadism (reduced secondary sexual characteristics)

Laboratory Tests:

Investigation	Reason
Fasting glucose	Diabetes screening
Fasting lipid profile	Vascular risk
BUN + Creatinine	Renal disease
LFTs (transaminases)	Hepatic disease
TSH	Thyroid dysfunction
Total testosterone	Hypogonadism (especially if young or signs present)
Free testosterone	If total T borderline - only ~2% of T is free/bioavailable
Prolactin	If low T found, to exclude hyperprolactinemia
PSA	If prostate symptoms

Note: Low testosterone is present in only ~7% of men with ED. A low level alone is not definitive causation.

Medications Causing Sexual Dysfunction

Drug Class	Examples
Antihypertensives	Beta-blockers, thiazides, clonidine, methyldopa, CCBs, ACE inhibitors
Antipsychotics	Multiple agents
Antidepressants	TCAs, SSRIs
Anxiolytics	Alprazolam, diazepam
Antiandrogens	Ketoconazole, spironolactone
5-alpha reductase inhibitors	Finasteride, dutasteride
GnRH agonists	Leuprolide, buserelin
H2-blockers	Cimetidine
Opioids	Multiple
Statins	Atorvastatin, pravastatin, simvastatin
Digoxin, fibrates, cytotoxic agents	Methotrexate

Differential Diagnosis - Male Sexual Dysfunction

Diagnosis	Features
Psychogenic ED	Situational, nocturnal erections preserved
Vascular ED	Age-related, cardiovascular risk factors, no nocturnal erections
Neurogenic ED	Spinal cord injury, MS, diabetic neuropathy, pelvic surgery
Endocrine ED	Hypogonadism, hyperprolactinemia, thyroid disease
Drug-induced	Onset correlates with medication change
Peyronie's disease	Pain/curvature during erection, fibrous plaque
Depression/anxiety	Psychological overlay, global reduced desire
Premature ejaculation	<1 minute intravaginal ejaculatory latency (distinct from ED)

Part 2 - Infertility

Definition: Failure to achieve pregnancy after 1 year of unprotected intercourse (evaluate sooner in women >35, history of pelvic disease, or known risk factors).

Distribution of causes:

1/3 male factors alone
1/3 female factors alone
1/3 combination
~20% unexplained (idiopathic)

Male Infertility

Causes (Classification)

Endocrine Disorders:

Hypothalamic dysfunction (Kallmann syndrome - GnRH deficiency + anosmia)
Pituitary failure (tumor, radiation, surgery)
Hyperprolactinemia (drugs, prolactinoma) - impairs GnRH release → hypogonadism → low T + ED
Androgen insensitivity syndrome (AIS)
Exogenous androgens (anabolic steroid abuse)
Thyroid disorders (both hyper- and hypothyroidism impair spermatogenesis)
Adrenal hyperplasia
Testicular failure

Anatomic Disorders:

Congenital absence of vas deferens (associated with CFTR mutations - cystic fibrosis)
Obstructed vas deferens
Congenital ejaculatory system abnormalities
Varicocele (most common identifiable cause, 15-35%)
Retrograde ejaculation

Abnormal Spermatogenesis:

Chromosomal abnormalities (e.g., Klinefelter syndrome 47,XXY)
Y chromosome microdeletions
Mumps orchitis
Cryptorchidism (undescended testis)
Chemical/radiation exposure

Abnormal Motility:

Kartagener syndrome (absent dynein arms → immotile cilia)
Antisperm antibody formation

Psychosocial:

Unexplained impotence
Decreased libido

Differential Diagnosis - Male Infertility

Diagnostic Category	Incidence (%)
Idiopathic infertility	50-60%
Varicocele	15-35%
Primary testicular failure (Klinefelter, Y microdeletions, cryptorchidism, irradiation, orchitis, drugs)	10-20%
Genital tract obstruction (congenital absence of vas, vasectomy, epididymal obstruction)	~5%
Hypogonadotropic hypogonadism (pituitary adenoma, panhypopituitarism, idiopathic HH, hyperprolactinemia)	3-4%
Other (sperm autoimmunity, drugs, toxins, systemic illness)	~5%
Coital disorders	<1%

(From Williams' Textbook of Endocrinology, via Textbook of Family Medicine 9e)

Investigations for Male Infertility

History focuses on:

Reproductive history (previous pregnancies, miscarriages)
Prescribed and recreational medications (including anabolic steroids, alcohol)
Systemic illness
Toxin and radiation exposure
Sexual history: technique, frequency, lubricants
STI history
Family history of genetic diseases

Physical Examination:

External genitalia - androgenization
Hair pattern - virilization
Breasts - gynecomastia
Neurologic - sense of smell (Kallmann), visual fields (pituitary mass)
Testicular volume and consistency

Step 1 - Semen Analysis (most important single test):

Parameter	Normal Value (WHO)
Ejaculate volume	>1.5 mL
Sperm density	>15 million/mL
Total sperm count	>39 million/ejaculate
Progressive motility	>32%
Total motility	>40%
Morphology (Kruger strict)	>4% normal forms
pH	7.2-8.0
Liquefaction	Within 40 minutes
Fructose	>1200 μg/mL

(Tietz Textbook of Laboratory Medicine, 7th ed.)

Semen should be analyzed within 1 hour of collection. If abnormal, repeat in 6 weeks before proceeding further.

Step 2 - Endocrine Evaluation (if oligospermia/azoospermia confirmed):

Hormone	Interpretation
↓LH, ↓FSH, ↓Testosterone	Hypothalamic or pituitary failure (hypogonadotropic hypogonadism)
↑LH, ↑FSH, ↓Testosterone	Primary gonadal failure (hypergonadotropic hypogonadism)
Normal LH, ↑FSH, Normal T	Germinal compartment failure (spermatogenic failure)
↑LH, Normal FSH, Normal/↑T	Androgen resistance
Normal LH, FSH, T	Idiopathic
Elevated Prolactin	Hyperprolactinemia - check TRH/hypothyroid as cause

Step 3 - Additional Tests:

Genetic testing: Karyotype (Klinefelter), Y chromosome microdeletion analysis
Testicular biopsy: If azoospermic with normal FSH (to distinguish obstruction from spermatogenic failure)
Scrotal ultrasound: For varicocele assessment
CFTR mutation analysis: If congenital bilateral absence of vas deferens (CBAVD)
hCG stimulation test: 5000 IU IM → measure testosterone at 72h. Doubling indicates normal Leydig cell function. Failure to rise >150 ng/dL = primary hypogonadism
Seminal biochemical markers: Absence of fructose/prostaglandins (seminal vesicle block); low acid phosphatase/citric acid (prostatic obstruction); low glucosidase (epididymal obstruction or CBAVD)

Male Infertility Evaluation Algorithm

Starting with history and physical exam → semen analysis → if abnormal, repeat in 6 weeks → if still abnormal → LH, FSH, Testosterone (± Prolactin, TSH) → interpretation leads to: hypothalamic/pituitary failure, gonadal failure, germinal compartment failure, androgen resistance, or idiopathic.

Female Infertility

Epidemiology

15-20% of all couples are infertile
Fertility peaks at ages 20-24, declines progressively after 32, steep decline after 40
Evaluate at 1 year unprotected intercourse; sooner if age >35, irregular menses, history of PID/STI, or gonadotoxin exposure

Causes (Classification)

Ovarian/Hormonal Factors (40%):

Polycystic ovary syndrome (PCOS) - single most common endocrine abnormality in reproductive-age women
Hypergonadotropic hypogonadism (primary ovarian insufficiency, menopause, gonadal dysgenesis)
Hypogonadotropic hypogonadism (Kallmann syndrome, pituitary insufficiency from tumor/necrosis/thrombosis/stress/exercise/anorexia)
Hyperprolactinemia (drugs, prolactinoma)
Luteal phase deficiency
Metabolic disease (thyroid, liver, obesity, adrenal hyperplasia with androgen excess)
Resistant ovary syndrome

Tubal Factors (20%):

Tubal occlusion or scarring (post-PID, post-surgery)
Salpingitis isthmica nodosa
Infectious salpingitis

Cervical Factors:

Stenosis
Inflammation/infection
Abnormal mucus viscosity

Uterine Factors:

Leiomyomata (fibroids)
Congenital malformations (Müllerian defects)
Intrauterine adhesions (Asherman syndrome)
Endometritis/abnormal endometrium

Peritoneal/Other Factors:

Endometriosis
Pelvic adhesions

Psychosocial:

Decreased libido
Anorgasmia

Immunologic:

Antisperm antibodies

Differential Diagnosis - Female Infertility

Diagnosis	Key Features
PCOS	Oligomenorrhea, hyperandrogenism, polycystic ovaries on USS
Primary ovarian insufficiency	FSH >25 IU/L before age 40, amenorrhea
Hypothyroidism	Weight gain, fatigue, low TSH, anovulation
Hyperprolactinemia	Galactorrhea, amenorrhea, elevated prolactin
Hypogonadotropic hypogonadism	Low FSH/LH, low estrogen, anosmia (Kallmann)
Endometriosis	Dysmenorrhea, deep dyspareunia, raised CA-125
Tubal factor (post-PID)	History of STI/PID, abnormal HSG
Asherman syndrome	Prior uterine instrumentation, oligomenorrhea
Uterine fibroids	Menorrhagia, pelvic pressure, uterine enlargement
Luteal phase defect	Low midluteal progesterone
Unexplained infertility	All tests normal (~20% of couples)

Investigations for Female Infertility

Step 1 - Assessment of Ovulation

Method	Details
Urinary LH kit (OPK)	Detects LH surge 24-36h before ovulation; guides timing of intercourse
Midluteal serum progesterone	Checked day 21-23 (7 days before expected menses). >300 ng/dL (9.5 nmol/L) confirms ovulation
Basal body temperature	Temperature rises 0.2-0.5°F at ovulation (due to progesterone). Only retrospective; no longer recommended routinely
Transvaginal ultrasound	Confirms follicular development and collapse

Note: No test confirms actual ovum release; progesterone confirms corpus luteum formation only.

Step 2 - Ovarian Reserve Testing

Test	Indication / Interpretation
Day 3 FSH	>12 IU/L = poor ovarian response; women >35 should be checked; referral to reproductive endocrinologist if elevated
Day 3 Estradiol (E2)	Elevated E2 despite normal FSH = poor reserve
Anti-Müllerian hormone (AMH)	Best marker of ovarian reserve; low = diminished reserve
Antral follicle count (USS)	<5-7 follicles = diminished reserve

Step 3 - Hormonal Panel (if menses absent, irregular, or signs of galactorrhea/thyroid disease)

Hormone	Purpose
TSH	Thyroid disease causing anovulation
Prolactin	Hyperprolactinemia; if elevated, check for hypothyroidism (elevated TRH → elevated PRL)
Testosterone	Androgen excess (PCOS, adrenal hyperplasia)
FSH + LH	Ovarian vs. central hypogonadism; progestin challenge if amenorrhoeic
Estradiol	Ovarian function
DHEAS, 17-OHP	Adrenal hyperplasia workup

Step 4 - Assessment of Tubal Patency and Uterine Anatomy

Test	Details
Hysterosalpingography (HSG)	First choice for tubal patency; outlines uterine cavity and tubal architecture
Laparoscopy + chromotubation	Gold standard; used if HSG abnormal or strong clinical suspicion of tubal disease
Transvaginal ultrasound	Ovarian pathology, fibroids
Sonohysterography	Submucosal myomas and endometrial polyps
Hysteroscopy	Direct visualization; therapeutic as well as diagnostic
MRI	Complex Müllerian anomalies
Laparoscopy	Peritoneal factors (endometriosis, adhesions)

Tests no longer recommended as routine:

Postcoital test (not sensitive)
Endometrial biopsy
Basal body temperature charts as routine initial test

Summary Table - Investigations for Female Infertility

Category	Tests
Ovulatory factors	Urinary LH kit; midluteal progesterone; transvaginal USS; TSH, FSH, PRL, androgens
Cervical factors	Cervical mucus evaluation; postcoital test (low sensitivity, no longer routine)
Uterine factors	USS; HSG; hysteroscopy; sonohysterography; MRI
Tubal factors	HSG (first choice); laparoscopy + chromotubation; fluoroscopic or hysteroscopic tubal cannulation
Peritoneal factors	USS; laparoscopy

(Modified from Brassard et al., Med Clin North Am 2008; via Textbook of Family Medicine 9e)

Female Infertility Evaluation Algorithm

Starting with history and physical exam → if normal: branch by menstrual pattern (regular/irregular/amenorrhea) → regular menses: ovarian reserve screen, partner semen analysis, tubal patency evaluation → irregular menses: TSH, PRL, T → amenorrhea: progestin challenge → guides toward diagnosis and treatment

Management Overview

Male Infertility

Infection: targeted antibiotics
Varicocele: varicocelectomy
Hypogonadotropic HH: pulsatile GnRH or exogenous gonadotropins (FSH + hCG)
Hyperprolactinemia: dopamine agonists (cabergoline, bromocriptine)
Obstruction: surgical correction or sperm retrieval + IVF/ICSI
Idiopathic/severe oligospermia: intrauterine insemination (IUI) or assisted reproductive technology (ART/IVF/ICSI)
Exogenous androgens: cessation and allow recovery

Female Infertility

Anovulation (PCOS): clomiphene citrate, metformin (if insulin resistant)
Hyperprolactinemia: bromocriptine
Hypothyroidism: levothyroxine
Hypogonadotropic HH: pulsatile GnRH or exogenous FSH + LH
Adrenal hyperplasia with androgen excess: glucocorticoids + clomiphene
Tubal factor: surgical repair or IVF
Endometriosis: laparoscopic ablation ± IVF
Uterine factors: hysteroscopic correction (fibroids, polyps, adhesions)
Unexplained: empirical clomiphene, IUI, or IVF

Sources

Textbook of Family Medicine, 9th ed. (pp. 1044-1052, 1261)
Tietz Textbook of Laboratory Medicine, 7th ed. (pp. 2378-2382, 2807-2826)
DSM-5 framework (as cited in Family Medicine and Neurology texts)

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