Pathologies Flashcards
Androgen Insensitivity Syndrome (AIS)
XY individual harbors mutations that knock out function of the androgen receptor on the X chromosome, so even though androgens are present the androgenizing effect on the genitalia will be lost. Has testicles in the labia majora, so the testes will produce MIS causing lack of internal female genitalia and short/blind vagina
Congenital Virilizing/Adrenal Hyperplasia (CVH/CAH)
Clinical Presentation: Masculinization of external genitalia in genetic females; poor weight gain, dehydration, vomiting, circulatory collapse
MOA: defect in cortisol pathway in adrenal gland, usually 21-hydroxylase deficiency, leading to excess ACTH production in anterior pituitary and excess androgen production
Cryptorchidism
Undescended testes
MOA: congenital malposition resulting in retention of the testes anywhere along the route of the descent
Tx: hCG treatment to stimulate Leydig cells to produce androgens may stimulate descent. Surgery also an option
* Increased incidence of testicular germ cell cancers in these patients
* Must fix by 2 y.o.
5α-reductase deficiency
Lack of 5α-reductase, which converts testosterone to DHT
Clinical Presentation: can have normal male external genitalia, ambiguous, or normal female external genitalia; have epididymis and vas deferens
Hypogonadotropic hypogonadism
Dysfunction at the level of the hypothalamus or pituitary leading to testosterone deficiency
Also called secondary hypogonadism
Hypergonadotropic hypogonadism
Dysfunction at the level of the testes leading to testosterone deficiency
Also called primary hypogonadism
Polycystic Ovarian Syndrome (PCOS)
Clinical Presentation: hirsutism, obesity, and insulin resistance, cycle changes (amenorrhea or frequent menses), elevated LH:FSH ratio
Histo: Many antral follicles
Varicocele
Associated with reduced fertility; found more in men aged 15-25
MOA: insufficient or congenital absence of valves within the spermatic veins causing blood reflux within the pampiniform plexus
Tx: Surgical removal of veins
*more common on left b/c L testicular vein anastomosing with L renal vein which is compressed by SMA
Hydrocele
Scrotum that rapidly fills with fluid when child/patient strains or tries to sit up
Congenital MOA: processes vaginalis remains open to peritoneal cavity
Acquired MOA: abnormal accumulation of serous fluid in the sac of the tunica vaginalis; usually doesn’t communicate with peritoneal cavity
* most spontaneously resolve w/in the first year of life
Extrophy of the Bladder
Protrusion of the anterior portion of the bladder wall through the lower abdominal wall
MOA: failure of the abdominal wall to close during fetal development
Tx: surgery
Urachal Sinus
Remnant of the urachus that connects to the umbilicus
Hypospadia
Opening of the urethra on the ventral surface of the penis
MOA: failure of fusion of the urogenital fold to meet in the midline
* very common
Epispadia
Opening of urethra on the dorsal surface of the penis
* very rare
Pseudohermaphroditism
external genitalia doesn’t match expected gonadal tissue present
46, XX intersex
Clinical Presentation: Chromosomes of a women, ovaries of a woman, external genitalia appears male
MOA: Usually due to female fetus being exposed to excess male hormones before birth
46, XY intersex
Clinical Presentation: Chromosomes of a male, but the external genitalia are incompletely formed, ambiguous, or clearly female
MOA: testes not forming properly (therefore low testosterone level), problem with testosterone receptor
Torsion of the Testes
Clinical Presentation: Sudden unilateral testicular pain
MOA: Sudden twisting of the spermatic cord resulting in strangulation of the blood vessels serving the testis and epididymis; gubernaculum remnant normally prevents testicular torsion
Dx: via US; must be treated within 4 hours
Balanoposthitis
Infection of the glans and prepuce (foreskin); caused by STIs (syphilis, gonorrhea, chancroid, herpes) and also by poor local hygiene in uncircumcised males
Priapism
2 types
Low Flow: persistent erection lasting 4+ hours; painful, glands is soft, may stutter
High Flow: persistent erection lasting 4+ hours; not painful, not a full erection, glans full
MOA: incorrect use of intra-cavernosum agents, sickle cell dz, trazodone, neoplastic processes, TPN
Erectile Dysfunction
Clinical Presentation: persistent inability to achieve or maintain an erection sufficient for intercourse
MOA: arteriogenic/vasculogenic, neurologic, venous outflow, psychogenic causes
Condyloma Acuminatum
Clinical Presentation: occurs on any moist mucocutaneous surface of external genitalia
MOA: benign, sexually transmitted tumor caused by HPV 6 and 11
Bowen Disease
Clinical Presentation: Solitary lesion involving the skin of the penis shaft and scrotum; found in patient >35 y.o.
MOA: Related to HPV 16; is a carcinoma in situ
* 10% of cases transform into squamous cell carcinoma
Bowenoid Papulosis
Clinical Presentation: Multiple penile lesions found in younger patients
MOA: Related to HPV 16; is a carcinoma in situ
* Doesn’t transform into squamous cell carcinoma
Squamous Cell Carcinoma of the Penis
Clinical Presentation: Slow growing and locally invasive; non-painful lesion, early metastasis to inguinal lymph nodes
MOA: Related to HPV 16 and 18
Slow growing and locally invasive
Urachal Cysts
Clinical Presentation: often don’t cause issues, but can get infected
MOA: small fluid filled cyst superior to the bladder and inferior to the umbilicus
Urge Incontinence
Clinical Presentation: Need to urinate 7+ x/day or 2+ x/night
MOA: low smooth muscle tone in the bladder, high number of bladder contractions (detrusor muscle)
Tx: anticholinergic drugs that inhibit parasympathetic stimulation of detrusor muscle contractions
Stress Incontinence
Clinical Presentation: Almost exclusively female problem; involuntarily leaking urine while sneezing, coughing, laughing, or lifting heavy weights
MOA: weakening of external urethral sphincter
Tx: kegel exercises; α-adrenergic agonists to increase contraction of the smooth muscle at the neck of the bladder
Overflow Incontinence
Clinical Presentation: Constantly dribbling urine
MOA: bladder muscles no longer contract properly
Tx: α1-adrenergic blocking agents to relax smooth muscle contractions
Cystitis
Clinical Presentation: Urinary frequency, lower abdominal pain, dysuria; more common in females
MOA: Uropathogens gain access via urethra; bacteria (E. coli, proteus, kelbsiella, and enterobacter) is the most common cause; also caused by chemo or radiation
Interstitial Cystitis
Clinical Presentation: Found more in women aged 30-70; intermittent pelvic pain, frequency, dysuria, urgency, hematuria
MOA: Chronic inflammation of unknown cause
Two forms: non-ulcerous and chronic with Hunner’s Ulcers
Malakoplakia
Clinical Presentation: Seen in immune compromised patients and in people with chronic bacterial infections
MOA: Acquired defect in phagocytic function; get inflammatory reaction in GU tract that causes yellow, mucosal plaques
Histo: Michaelis-Gutmann bodies, foamy macrophages, multinucleated giant cells
Polyploid Cystitis
Clinical Presentation: Doesn’t present with dysuria or polyuria; usually symptom-less
MOA: Inflammatory lesion caused by chronic irritation of the urethra, often due to an indwelling catheter
Urothelial Papilloma of the Bladder
Clinical Presentation: Painless hematuria, frequency, urgency, dysuria;
1% or less of bladder tumors
Found in younger patients
Histo: structures superficially attached to the mucosa by a stalk with exophytic configuration
Low Grade Papillary Urothelial Carcinoma of the Bladder
Clinical Presentation: Painless hematuria, frequency, urgency, dysuria
Histo: orderly appearance, evenly spaced, cohesive cells, infrequent mitotic figures, minimal nuclear atypia
High Grade Papillary Urothelial Carcinoma of the Bladder
Clinical Presentation: Painless hematuria, frequency, urgency, dysuria
Histo: dys-cohesive cells with large, hyperchromatic nuclei, frequent mitotic figures, loss of cells polarity, higher incidence of invasion into muscular layer
Flat Urothelial Carcinoma/CIS of the Bladder
Clinical Presentation: Painless hematuria, frequency, urgency, dysuria
Histo: Malignant cells within a flat urothelium; lack of cohesivness that causes shedding of malignant cells in urine, involves most of bladder surface
50-70% progress to muscle-invasive cancer if untreated
Invasive Urothelial Carcinoma of the Bladder
Clinical Presentation: Painless hematuria, frequency, urgency, dysuria; associated with papillary urothelial cancer, usually high grade
MOA: Extent of spread to muscularis associated with prognosis
Squamous Cell Carcinoma of the Bladder
Clinical Presentation: Painless hematuria, frequency, urgency, dysuria; 3-7% of bladder cancers; nearly always associated with chronic bladder irritation and infection
Pelvic Fracture
From automobile accidents: displacement of pubic symphysis posteriorly, breaking superior and/or inferior rami; from jumping: displacement of the head of the femur through the acetabulum
Straddle Injuries
Damage to external genitalia that causes bleeding into superficial perineal space; blood is limited by the superficial perineal membrane where it attaches to deep fascial planes
Internal Hemorrhoids
Clinical Presentation: usually painless, often grow quite large before they are noticed
MOA: Swollen veins in the anal canal due to increased venous pressure; are superior to pectinate line
External hemorrhoids
Clinical Presentation: Painful, itchy rectum
MOA: Swollen veins in the anal canal due to increased venous pressure; are inferior to the pectinate line
Perianal abscess
Infection around the anus and rectum that can originate from breaks in the anal mucosal membrane
Pilonidal Cyst
Cyst near the coccyx
Chlamydia
Clinical Presentation: In females may be asymptomatic; epididymitis and prostatitis in males
MOA: Chlamydia bacteria
* most common STI in the world
Gonorrhea
Clinical Presentation: Urethritis in males; often asymptomatic in females
Genital Herpes
Clinical Presentation: Multiple vesicles on genitalia; when disseminated can cause blindness and encephalopathy
MOA: HSV-2 infection; viral replication in skin and mucous membranes
Histo: viral inclusion bodies, margination, excess chromatin
Chancroid
Clinical Presentation: Multiple genital ulcers, papules, lymphadenopathy in the groin
MOA: Seen in the tropics/subtropics
Granuloma inguinale
Clinical Presentation: Painless ulcers; lymphedema and scarring/stricture of the genitalia
MOA: Klebsiella Granulomatis (Coccobacillus) infection of the genitalia
Syphilis
Clinical Presentation: Solitary lesion at first; can progress to later stages if untreated
MOA: Spirochete infection of gram negative corkscrew shaped bacteria, Treponema Pallidum
Condyloma (genital warts)
Clinical Presentation: Very common STI
MOA: related to HPV 6 and 11
Klinefelter’s Syndrome
Clinical Presentation: Decreased testosterone levels, small penis, usually azoospermia, ~50% have some breast development at puberty, high FSH and LH levels, difficulties reading and writing
MOA: XXY hypogonadism
* usually not detected until puberty unless tested for at birth
Turner’s Syndrome
Clinical Presentation: Typically sterile, short stature, lymphedema, webbed skin behind the neck, low hairline, small breast development, ovarian failure, coarctation of the aorta, bicuspid aortic valve, aortic dissection
MOA: XO in females; 2/3 of cases is maternal origin
* about 95% are spontaneously aborted in the first trimester
Kallman Syndrome
Clinical Presentation: Ansomia (lack of sense of smell) and hypogonadism
MOA: Genetic disorder (can be X-linked, autosomal, recessive, or dominant); failure of GnRH neurons to migrate and enter the proper location during development
Seminoma
Germ Cell Tumor - MALIGNANT
Clinical Presentation: Testicular mass or enlargement, dull pain or minor discomfort
Gross: yellow-gray discoloration of the testis
* 90% cure rate
Non-Seminomatous Germ Cell Tumor (NSGCT)
Non-Seminomatous Germ Cell Tumor - MALIGNANT
Clinical Presentation: Testicular mass; elevated hCG and/or AFP
MOA: Proliferating stem cells
* an metastasize to paraaortic lymph nodes, lungs, liver, and brain
Includes: Yolk Sac Tumor, Choriocarcinoma, Embryonal Carcinoma, and Immature Teratoma
Leydig Cell Tumor
Sex Cord Stromal Tumor - BENIGN
MOA: abnormal proliferation of Leydig cells
Histo: lots of cytoplasm with crystalloids
90% benign, at least 50% hormonally active
Sertoli Cell Tumor
Sex Cord Stromal Tumor - BENIGN
MOA: Abnormal proliferation of Sertoli cells
Histo: Tubules full of Sertoli Cells
90% benign, at least 50% hormonally active
Yolk Sac Tumors
Non-Seminomatous Germ Cell Tumor - MALIGNANT
Clinical Presentation: 99% occur in children younger than 4 y.o.; Elevated AFP
Histo: Schiller-Duval bodies; tissue resembles yolk sac
Choriocarcinoma of the Testes
Non-Seminomatous Germ Cell Tumor - MALIGNANT
Clinical Presentation: Elevated hCG in serum and urine.
MOA: autonomous trophoblastic proliferation; type of gestational trophoblastic disease
very rare
Acute Bacterial Prostatitis
Clinical Presentation: fever, chills, dysuria
MOA: Caused by E. Coli and other gram negative bacteria via direct implantation, lymph nodes, or surgical manipulation
Chronic Bacterial Prostatitis
Clinical Presentation: Low back pain, dysuria, perineal and suprapubic discomfort; history of recurrent UTI