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