Urology Flashcards
When does differentiation in of the bipotential gonad begin?
6 weeks
What is the SRY gene
Sex-determining Region on the Y chromosome
-on the short arm Y chromosome causes gonads to become testes
What hormone does the Sertoli cells make and what is it’s effect
Antimullerian hormone (AMH)
-Results in ipsilateral regression of mullerian ducts (which would become fallopian tubes, uterus, cervix and upper vaginal in normal F)
What hormone does the Leydig cells make and what is it’s effects
Testosterone
-Ipsilateral development of wolfian ducts (which become vas, epididymis, seminal vesicles)
How does development of male external genitalia occur?
-at 8 weeks there is virilization of the external genitalia due to Testosterone exposure
- Enzyme 5 alpha reductase converts 8% of testosterone to dihydrotestosterone (DHT) (the more potent form of T)
- DHT is critical for normal and complete male virilization
How does the development of female internal and external genitalia occur?
XX –> no SRY –> no testes –> no testosterone & No AMH (female by default)
XX –> no SRY –> Ovaries and mullerian duct development
No testosterone –> Female external genitalia
What are the two most common forms of DSD
- 46 XX CAH
- masculinized female
- most common form of DSD - 45X/45 XY Mixed gonadal dysgenesis
- 2nd most common form of DSD
Describe 46XX CAH
- AR Inborn error of metabolism
- Deficient glucocorticoid synthesis (+/- mineralocorticoid synthesis) by the adrenal gland
- 75% virilized salt water, 25% simple virilizers (no salt waste)
- 95% have 21-hydroxylase deficiency
- metabolic pathway shunted toward adrenal sex steroid production, proximal to the defect
- decrease/no cortisol production –> increase ATCH –> ++ increased testosterone
What is the management of 44XX CAH
gender assignment: usually female
Surgery: feminizing genitoplasty & vaginoplasty
Medical: Hydrocortisone (to restore cortisol & suppress further virilization), Fludrocortisone if salt waster
Which gonads have increased risk for cancer
- Gonads with Y chromosome have increased risk of gonadoblastoma
- If male gender selected, need informed discussion regarding orchiopexy vs orchiectomy and androgen replacement
What are the 3 defects that can be seen in hypospadias
Hypospadias is an arrest during embryologic penile development
- Foreskin is incomplete ventrally
- Urethra meatus not at tip of penis
- Erections curve downwards
-90% of HS cases are isolated penile defects, but may be part of a syndrome
When should prenatal XX CAH treatment start
Should begin before normal virilization of external genitalia occurs (before 8 wks)
- only the female fetus with defect will benefit from prenatal treatment
- AR so only 1/4 of preg affected
- treatment only beneficial for 1/8 of preg
- only for research
- treat with dexamethasone
What is an Intravenous Pyelogram
IVP
- no longer really used now
- used IV contrast taken up by the kidney and excreted during a series of KUB x-rays
- Indications: to diagnosis stones and obstruction
- able to define the collecting system anatomy better than US and provides functional information regarding obstruction
- however it is invasive and needs radiation
What is a Voiding Cystourethrogram
VCUG
-injection of contrast into the bladder via a urethral catheter and fluoroscopy during bladder filling and voiding
indications: assess for VUR and PUV
advantages: provides anatomic detail of refluxing collecting system and urethra (Allows for IRS grading)
risks: invasive (catheter) radiation
What is a Nuclear Cystogram
NC
-injection of radionuclide into bladder via urethral catheter
Imaging of bladder filling and voiding
Indications: Initial assessment for VUR in F only . Follow-up of VUR in both M & F
advantage: less radiation than VCUG
risks: invasive (cath). radation
does not assess for PUV (should not be 1st line for M with hydronephrosis or UTI )
What is a Renal Scan
- IV injection of radionuclide. Gamma camera imaging of kidney uptake +/- excretion
indications: multiple: Different radionucleotide for different indications
advantages: provides functional information
risks: invasive (IV +/- cath) radiation. child must be held still
What does a MAG3, radionuceotide + diuretic and DMSA tell you
MAG3 = split renal function (always adds up to 100%)
Only diuretic can tell you about obstruction
DMSA - can only tell you about renal scarring
What is a Renal/Bladder US
-anatomical assessment using sound waves
indication: anatomical imaging of the urinary tract
advantages: non invasive, no radiation exposure, clarifies cystic vs solid masses
risks: not as sensitive as CT. May miss stones/masses. Normal US does not rule out VUR
What is Urodynamics
-various functional studies done to assess bladder function
Voiding calendar: two day home data collection of time and volume of voids. Provides urinary frequency and functional bladder capacity. Helpful to dx overactive bladder (OAB)
Post Void Residual (PVR): US bladder scanner. Assess bladder emptying
Uroflowmetry: Velocity curve of urinary stream. Assess for urethral obstruction
Cystometry (AKA “invasive “ UDS): Assessment of bladder pressures during bladder filling and voiding. Requires urethral and rectal pressure problems and child must lay still while awake
Pelvic floor electromyography (EMG): Assessment of relaxation/contraction of plevic floor muscles during bladder filling and voiding. Assess for N pelvic floor relaxation w/ voiding (synergistic voiding)