LM 1.4: Common Congenital GU Anomalies

Question 1

how is the phallice and urethra formed embryologically in men?

Answer 1

1. genital fold, genital swelling, genital tubercle
2. genital tubercle, genital fold, genital swelling
3. glans, fused genital golds, anus
4. urethral groove, scrotum (from genital swelling)

5.

Question 2

how is the phallice and urethra formed embryologically in women?

Answer 2

1. genital fold, genital swelling, genital tubercle
2. genital tubercle, genital fold, genital swelling
3. glans, unfused urethral groove, anus
4. labia minor from genital folds, labia major from genital swellings
5. clitoris, urethral orfice, hymen

Question 3

what is hypospadias?

Answer 3

urethra opens onto underside of penile shaft, or at the penoscrotal junction or in the perineum

caused by failure of fusion of the ventral urethral groove

foreskin may appear as a dorsal hood

associated with chordee (curved penis)

extremely rare in girls; urethra opens into vaginal introitus

Question 4

why is it important to identify hypospadias?

Answer 4

1. circumcision procedures should be delayed in these infants, since the foreskin is often used in reconstruction
2. surgical intervention is typically done within the first 2 years of life (most often between 6 and 24 months).

Question 5

what is epispadias?

Answer 5

urethra opens onto the dorsal surface of the glans, or on the penile shaft or at the penopubic junction

most severe form occurs with bladder exstrophy = rare birth defect; bladder develops outside of the body through an opening on the adominal wall)

extremely rare in girls; urethra may open between the clitoris and labia, or in the abdomen

Question 6

what is chordee? what causes it?

Answer 6

fotational curvature of the penis (ventrally, laterally, or rotationally) that becomes more apparent with erection

caused by fibrous tissue along the course of the corpus spongiosum or by a variation in the sizes of the two corpora

may be associated with hypospadias

Question 7

what is the most common penile anomaly?

Answer 7

phimosis

Question 8

what is phimosis?

Answer 8

constriction of the foreskin with inability to retract over the glans aka you can’t pull the foreskin down from the glans of the penis

can be congenital or acquired

may be “treated” or relieved with circumcision procedure

this is the most common penile anomaly!!!

Question 9

what is paramphimosis?

Answer 9

inability to reduce a retracted foreskin distally over the glans aka you can’t put the foreskin back over the glans of the penis

should be reduced immediately (can act as a “tourniquet”, causing edema or pain)

may require circumcision

Question 10

what is urethral mental stenosis?

Answer 10

narrowing of the opening of the urethra at the external meatus; can limit bladder outflow

most commonly “acquired” after circumcision but can be occasionally congenital (often associated with hypospadias)

meatotomy may be needed for difficulty with urinary stream

Question 11

what is urethral stricture?

Answer 11

narrowing of the urethra internally; restricts urinary flow

Question 12

what causes urethral stricture?

Answer 12

1. straddle injuries
2. pelvis fractures
3. catheter insertion
4. radiation
5. benign prostatic hyperplasia
6. prostate surgery
7. untreated UTI (rare)
8. untreated STD like gonorrhea or chlamydia (rare)

Question 13

what is microphalus?

Answer 13

a stretched penile length < 2.5 standard deviations below the mean for age

penis is otherwise normally formed

associated with androgen deficiency or insensitivity; treatment is testosterone supplementation

Question 14

A 27 year old male who races motorbikes professionally presents for evaluation of “difficulty with urination”. He reports that over the past 6 months, he often has difficulty starting his stream, and often feels that he cannot empty his bladder completely. What is the most likely etiology of his symptoms?

A. hypospadias

B. epispadias

C. meatal stenosis

D. urethral stenosis

E. enlargement of prostate

Answer 14

D. urethral stenosis

Question 15

what are the most common testicular anomalies?

Answer 15

1. congenital hydrocele
2. undescended testes (cryptorchidism)
3. testicular torsion

Question 16

what is congenital hydrocele?

Answer 16

a collection of fluid in the scrotum between layers of the tunica vaginalis

may be communicating (through a patent processus vaginalis with the abdominal cavity–potential hernia space) or noncommunicating.

presents as painless, enlarged scrotum

often resolve spontaneously; usually requires repair if persists after 12 months of age (or if enlarging)

Question 17

what is cryptorchidism?

Answer 17

aka undescended testes – failure of one or both testes to descend into the scrotum

often accompanied by an inguinal hernia

diagnosed by physical examination; confirmed by laparoscopy (if presence of testicle cannot be confirmed by exam) –> 2/3 resolve spontaneously within first 4 months of life

Question 18

what is the pathophysiology of cryptorchidism?

Answer 18

the testes normally develop at 7-8 weeks gestation, then remain intraabdominal (above internal inguinal ring) until about 28 weeks gestation

at 28 weeks, they begin their descent into the scrotum guided by condensed mesenchyme called the gubernaculum

if this doesn’t happen, you get cryptorchidism

Question 19

what hormonal, physical and environmental factors effect the descent of the testes?

Answer 19

hormonal

1. androgens
2. MIS

physical

1. gubernacular regression
2. intra-abdominal pressure

environmental
1. material exposure to estrogenic or antiandrogenic substances

Question 20

what are true undescended testicles?

Answer 20

a form of cryptorchidism where the testes that remain in the inguinal canal along the path of descent

sometimes, less commonly, they’ll stay in the abdominal cavity or in the retroperitoneum

Question 21

what is an ectopic testis?

Answer 21

a form of cryptorchidism where the testis descends normally but diverts to an abnormal location like the superficial inguinal pouch, perineum or inner aspect of the thigh

Question 22

what is an empty scrotum?

Answer 22

a form of cryptorchidism where the testes do not end up in the scrotum

sometime the men will have palpable testes at birth but the ascending” with linear growth due to ectopic fubernacular attachment

Question 23

what are the complications of cryptorchidism?

Answer 23

1. subfertility
2. testicular carcinoma
3. testicular torsion
4. inguinal hernia (associated with patent processus vaginalis

Question 24

how do you diagnose cryptorchidism?

Answer 24

all newborn boys should have a testicular exam

annual examinations thereafter should assess testicular location and growth

an enlarged (larger than expected) unilateral descended testis should raise suspicion of an atrophic undescended testis

Question 25

how do you treat cryptorchidism?

Answer 25

consider possibility of sexual differentiation disorder in presence of bilateral undescended testes.

treatment with surgical orchiopexy (testis is brought into the scrotum and sutured into place; inguinal hernia is repaired) for undescended testis should be done early (at about 6 months of age) to improve fertility and reduce cancer risk

if atrophic tissue is found on laparoscopy, the tissue is removed. (atrophic, undescended testes may be result of prenatal testicular torsion)

no intervention necessary for retractile testis if they rest without traction when cremasteric reflex not stimulated – these typically resolve without treatment by puberty with increased testicular size (makes retraction more difficulty)

Question 26

what is testicular torsion?

Answer 26

when a testicle rotates, twisting the spermatic cord which contains the blood supply to the scrotum, reduced blood flow causes sudden and often severe pain and swelling

1. sudden, severe pain in the scrotum, often with swelling
2. abdominal pain, nausea and vomiting
3. fever
4. frequent urination
5. may awaken in the middle of the night with symptoms

Question 27

what are the complications associated with testicular torsion?

Answer 27

1. damage or death to the testicle when unrecognized or not treated immediately
2. permanent damage to the testicle may result in decrease in fertility

Question 28

what are the risk factors for testicular torsion?

Answer 28

1. vigorous activity
2. minor injury to the testicles
3. cold temperatures
4. rapid growth (during puberty)
5. family history may also play a role

Question 29

how can you prevent testicular torsion?

Answer 29

surgical “anchoring” of testicles at risk for torsion

some men will have intermittent symptoms of torsion/ detorsion, which may predict increased future risk

Question 30

You are examining an 18 month old male during a routine well child examination. You are unable to palpate the right testicle within the scrotal sac, although you believe that you can possibly palpate it high within the inguinal canal. A previous record documented bilateral descended testicles during his 12 month examination. What would you tell the parents about this findings during this visit?

A. this abnormality was present on previous examinations even though it was not documented as such

B. the child should be referred to a surgical specialist for evaluation for correction at this point

C. the child should be assessed by you against at the age of 2 and if this abnormality is still present he should be sent for evaluation by surgical specialist

D. the child should be prescribed hormonal therapy for 12 months and if no descent of the testicle then he should be sent for surgical evolution

Answer 30

B. the child should be referred to a surgical specialist for evaluation for correction at this point

PCPs should refer boys with acquired cryptorchidism after 6 months to a surgical specialist for timely evaluation

Question 31

when does the female genital tract begin to develop? when do disorders develop?

Answer 31

begins at 3 weeks of embryogenesis and continues into the second trimester of pregnancy

disorders of the vagina occur prior to birth, and are closely associated with anorectal malformations/ imperforate anus

development of the gonads occurs independently from that of the genital tract, so women may have congenital uterovaginal anomalies with normal ovaries and hormonal production

Question 32

what is vaginal agenesis?

Answer 32

the vagina stops developing prior to birth, resulting in a shorter vagina, a partial vagina, or no vagina at all

also known as Müllerian agenesis or Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome

associated with other abnormalities of the reproductive tract (absence of, or anomalies, of the uterus, or renal abnormalities)

Question 33

what is an imperforate hymen?

Answer 33

the thin membrane that surrounds the vagina (hymen) fails to open, thereby completely covering the vaginal opening and blocking menstrual blood flow

may present in adolescence with pelvic pain and primary amenorrhea

may have pain with bowel movements and difficulty with urination

treatment is surgical to create a normal vaginal opening

Question 34

what is a septet hymen?

Answer 34

a band of extra tissue in the middle of the hymen causes 2 small vaginal openings instead of 1

surgical removal of the band can create a normal vaginal opening

Question 35

what is a fusion anomaly of the GU tract?

Answer 35

in some cases, the urinary and genital tracts may open into a common channel in women

Question 36

An infant born to a 22-year old female has ambiguous genitalia. Karyotyping reveals presence of a Y chromosome, and there is no uterus on pelvic examination. The absence of a uterus is due to the effects of which of the following substances in the fetal period?

Answer 36

mullerian inhibitory factor (MIS)

embryonic testis secretes testosterone and Mullerian inhibitory factor (MIF) –> MIF causes regression of paramesonephric ducts, which normally give rise to internal genitalia in females

testosterone causes development of male internal genitalia

Question 37

what are some of the causes of ambiguous genitalia?

Answer 37

hormonal abnormalities during pregnancy may interrupt or disturb the fetus’s developing sex organs.

1. lack of male hormones in genetic male or exposure to male hormones in genetic female
2. timing of expression is also important
3. mutations in certain genes can influence fetal sex development and can cause abnormal expression
4. chromosomal abnormalities (missing or extra sex chromosome) can cause

sometimes cause is unclear (in up to 50% of 46,XY DSD cases)

Question 38

what is congenital adrenal hyperplasia?

Answer 38

CAH is the most common cause of virilized XX infants = a condition in which a female develops characteristics associated with male hormones

the adrenal glands make excess androgens, but also abnormalities (underproduction or overproduction) of mineralocorticoids

Question 39

what are 4 causes of congenital adrenal hyperplasia?

Answer 39

1. 21-hydroxylase deficiency
2. 11-β-hydroxylas deficiency
3. P450 oxidoreductase deficiency
4. 3-β-hydroxysteroid dehydrogenase type II deficiency

Question 40

what is 21-hydroxylase deficiency?

Answer 40

the most frequent enzymatic defect causing congenital adrenal hyperplasia!

dlevated serum 17-hydroxyprogesterone

salt-wasting (hyponatremia) with hyperkalemia and hypotension (varying degrees)

at risk for adrenal crisis (life-threatening)

Question 41

what is 11-β-hydroxylas deficiency?

Answer 41

second most common enzymatic defect causing congenital adrenal hyperplasia

elevation in 11-deoxycortisol; mild elevation in 17-hydroxyprogesterone

mild-moderately virilized genitalia

older children can present with hypertension and hypokalemia

salt-wasting and adrenal crisis are rare

Question 42

what P450 oxidoreductase deficiency?

Answer 42

a rare cause of congenital adrenal hyperplasia

has features of both 21-hydroxylase and 17-alpha hydroxylase deficiencies

Question 43

what is 3-β-hydroxysteroid dehydrogenase type II deficiency?

Answer 43

a rare cause of congenital adrenal hyperplasia

relatively mild virilization

present with symptoms of cortisol and aldosterone deficiency (vomiting, hyponatremia, hyperkalemia, volume depletion)

Question 44

which tumors can cause congenital adrenal hyperplasia?

Answer 44

rarely a tumor can produce androgens:

1. maternal luteoma
2. theca-lutein cysts
3. placental aromatase enzyme deficiency

Question 45

what are the genetic female 46, XX disorders of sex development?

Answer 45

1. congenital adrenal hyperplasia
2. prenatal exposure to male hormones
3. tumors

Question 46

what are the genetic male 46, XY disorders of sex development?

Answer 46

1. 5-α-reductase deficiency
2. partial gonadal dysgenesis
3. androgen insensitivity syndrome
4. impaired testiicular development

Question 47

what is 5-α-reductase deficiency?

Answer 47

a genetic male 46, XY disorders of sex development

defective conversion of testosterone to DHT = undermasculinization of genitalia

fully functioning Leydig and Sertoli cells = spermatogenesis is possible

AR

Question 48

what is partial gonadal dysgenesis?

Answer 48

a genetic male 46, XY disorders of sex development

likely a gene mutation results in abnormality of primordial urogenital structures

high risk of malignant transformations

decision about sex of rearing can be complicated (especially if very underdeveloped genitalia in 46 XY

Question 49

what is androgen insensitivity syndrome?

Answer 49

a genetic male 46, XY disorders of sex development

x-linked recessive

can be partial or complete expression

Question 50

The most common cause of congenital adrenal hyperplasia results from a deficiency of an enzyme which will also, mostly likely result in which of the following in the affected individual?

A. hypernatremia

B. hyperkalemia

C. ambiguous genitalia in both males and females

D. congenital hyperglycemia

E. congenital hypertension

Answer 50

B. hyperkalemia

21-hydroxylase deficiency accounts for 90 percent of cases of congenital adrenal hyperplasia, and results in hyperkalemia (inability to excrete K+)