30. Congenital anomalies of the testis

Question 1

what is the main function of the testes

Answer 1

to produce sperm

Question 2

list the Main male reproductive organs (in ascending order); •

Answer 2

Testes -> adjacent epidydymis -> Vas deferens (part of spermatic cord) contents are nerves and vessels of spermatic cord). VD is approximately 30-50cm long. ->2Ejaculatory ducts- that are result of confluence of distal or terminal part of vas deferens and the 2 excretory duct of seminal vesicles at the level of the ->seminal colliculus the EjD open into the prostatic urethra-> membranous urethra->penile/spongy urethra-> penis-> External urethral orifice

Prostatic urethra + membranous = prostatic urethra.

Question 3

what are the two parts of male genitalia

Answer 3

External genitalia: penis, scrotum, testis

Internal genitalia: prostate, seminal vesicle, ejaculatory duct,

Question 4

what are the four embryological staages of the testes

Answer 4

1. mesonephros
2. dimophism
3. wolfian duct developement
4. mullerian duct regression

Question 5

Embryology of the testis

Answer 5

• 1)Testes come from mesonephros
• Collecting duct of mesonephros is called wolffian duct = generates male reproductive organs and the kidney, is formed​
• 2)Dimorphism= Sexual development occurring betw/ 6-8 weeks of gestation until 20th week of gestation. When male or female phenotype is recognised.
• Dimorphism means presence of testes or ovaries,
• Physiological position of testicles is scrotum at birth
• When male phenotype is recognised,3) wolffian duct give rise to ureters, part of the urinary bladder, VasD, Epidydymis and seminal vesicles.
• 4)Müllerian duct regresses d/2 inhibitory hormone by sertolli cells. along w/ testosterone and other hormones
• in a female phenotype, Müllerian duct gives rise to female reproductive organs - uterus and Fallopian tubes

Question 6

what are the 2 stages of testicular descent

Answer 6

• Intrabdominal phase
  
  • kidney=> deep inguinal ring=>equal to peritoneum
• Inguinal scrotal stage
  
  • deep inguinal ring=>scrotum at 7-9 mo gestation

Question 7

when does the testis descend into the scrotum

Answer 7

scrotum at 7-9 mo gestation

should be in the scrotum at birth

60% of undescended testes fully descend within the first year

Question 8

whaat are the 3 layers/ tunics of the testes

Answer 8

Tunica Vaginalis

Tunica Albuginea

Tunica Vasculosa

Question 9

what are the types of congeital anomalies of the testes

Answer 9

1. congenital anomalies according to number
2. congenital anomalies according to size/structure
3. congenital anomalies according to position

Question 10

congenital anomalies of testis according to number

Answer 10

monorchidism = absence of one testes

• not a problem for fertility but for cosmetics
  
  • solved by placement of testicular prosthesis

anorchidism = Absence of both testes. Very difficult situation.

• definite male infertility
• biological castration of Fetus by Rubella infection during pregnancy.

polyorchidism = Presence of 2+ histological proven testes

Very rare congenital anomaly

Question 11

congenital anaomalies of the testis according to size/structure

what are the 2 parts,

in terms of structural anomalies what’s the dx betw/ dysgenesis and agenesis

which are the genetic syndromes that affect testicular structure

Answer 11

size =small testicles •

structure= atypical d/2 defective early embryogenesis

dysgenesis presence of defective anatomical organ

agenesis there is no anatomical organ.

•Genetic syndromes

1. Klinefelter syndrome - 47XXY.
2. Kallmann syndrome -
3. Persistent Müllerian duct syndrome PMDS
4. Del Castillo syndrome or sertolli cell only syndrome or germ cell aplasia

Question 12

describe klinefelter syndrome

Answer 12

Klinefelter syndrome - 47XXY.

Clinical features are gynecomastia, small testicles, low intelligence, infertility

Question 13

describe Kallman syndrome

Answer 13

• sx: hypogonadotropic hypogonadism + anosmia.
• impaired hormone production from hypothalamus GnRH. Mild infertility as a result.

Question 14

what is Persistent mullerian Duct syndrome

Answer 14

• great example of Disorder of Sexual Development
• persistent Mullerian duct in males causes pseudohermapgroditism
• Pseudohermaphroditism = ​Normal external and internal male genitalia but with presence of female reproductive organs.
• Diagnosis is difficult d/2 normal exterior

Question 15

what is Del Castillo syndrome

Answer 15

aka or _sertolli cell only syndrom_e or germ cell aplasia

• complete lack of germ epithelium with only of sertolli cells in seminiferous tubules.
• sx:
  
  • definite male infertility
  • No erectile dysfunction, normal erectile function due to normal production of testosterone by leydig cells.
  • no hypogonadism
• Diagnosis
• made by open excisional testicular biopsy.
  
  • The main indication for testicular biopsy is infertility and azoospermia.
  • Final histological report shows absence of germ epithelium.
• pts w/ castillo can still achieve fatherhood by: assisted reproductive technologies with donor insemination

Question 16

what is the indication for dg for del castillo

Answer 16

Diagnosis made by open excisional testicular biopsy.

indicated by infertility and azoospermia.

definitive dg on histology is absence of germ epithelium on excisional testicular biopsy

pts w/ castillo can still achieve fatherhood by: assisted reproductive technologies with donor insemination

Question 17

what are the congenital anomalies of the testes according to position

Answer 17

1. Cryptochoridsm-mc testicular anomaly
2. Ectopy
3. Retractile testes
4. Non palpable testes

Question 18

what is the most common testicular cong anomlalie

Answer 18

Cyrptochordism aka undescended/ maldescended testes:

def: arrested testes on the normal path of testicular descent between renal and scrotal areas

• two major unfavourable effects of cryptorchidism is 1)infertility and 2)significant risk for testicular cancer
• NB to prevent this unfavourable effect of cryptorchidism, early operation is strongly recommended. Name of operation is orchidopexy.
  
  • This operation performed; in USA up to first year, in Europe between 1-3 years

Question 19

when is orchidopexy done to prevent the complications (infertility, testicular cancer) of crpytochordism

Answer 19

• in USA up to first year,
• in Europe between 1-3 years.

Question 20

descrribe ectopy

give examples

what is the treatment for ectopy of the testes

Answer 20

def: testes has strayed from the normal path of descent.

• Means that testicle is in an unusual position e.g,
  
  • suprapubic, penile ectopy, perineal ectopy, femoral
  • transversal / crossed ectopy very rarely when both testicles are in one part of the scrotum these terms are also eligible for renal ectopy.

Operation is orchidectomy

Question 21

what is rectrale testes

what are the four criteria for a testes to be considered retractile

what is the treatment for rectractile testes if any

Answer 21

Retractile testes = the testes intermittently migrate to a higher position along the normal descent.

criteria for retractile testicle NB

• 1. Testes can be manipulated to the bottom of the scrotum during physical examination
• 2. Tested re_mains in the scrotum during_ physical examination
• 3. Testes is normal in size e.g. aplastic
• 4. Testes have been seen in the scrotum by the parents

surgical operation is not recommended, it’s important to identify when the testicle is retractile.

Question 22

what is the definition of a non palpable testes

what does it mean if it is bilateral

what is DSD

Answer 22

def= testicle can’t be palpated during physical exam even under anaesthesia

4 causes of non palp testes on phys exam

1. Anorchidism: congeital abscence of one or both testes
2. testicular atrophy
3. intraabdominal location of testes
4. incorrect physical examination

Bilateral non palpable testicles is a very dangerous situation.

• can be caused by DSD means disorder of sex development, in strict sense this means any congenital condition with atypical development.