Cryptorchidism

& related conditions.

Dr Martina Rodie

Clinical Lecturer in Child Health

Summary

•
Development of the testis

•
The inguinal canal

•
Path / control of testicular descent

•
Clinical examination

Cryptorchidism
•
Hypospadias

•
Disorders of Sex Development

•
Questions / discussion

Development

till

aroundweek 6

to presenther

genes need be
commongenes

normalovarianformalin

Caodifferent
aecdable

genes

oestrogen

for
sexaffopment

Aromatase

v important

more
tyrant

testosterone

a C
g

AMH paracrine

Tests
too endocrine


Testes u descents

Abdominal
pace

wk8 15
faderf

insulinlike

testicular quae

weekis

morelikelyto

have
cudeecorded

testes

Coverings of the testis

ne

petperitonealQuid

yo

code

hydro

alter
code
Hydro

birth

physical

exammatees

byfluorescent

try torch

Testicular descent

INSL-3 & AMH

TESTOSTERONE

brequired

her

normal
lesweedo

screwed

decent

Hutson JM. Anatomical and functional aspects of testicular descent and

cryptorchidism. Endocr Rev. 1997 Apr;18(2):259-80

10th
Process

of testicular descent begin in wk

The inguinal canal – ‘MALT’

2M, 2A, 2L,2T:

Upper wall: 2 Muscles:

· internal oblique Muscle

· transverse abdominus Muscle

Anterior wall: 2 Aponeuroses:

· Aponeurosis of external oblique

· Aponeurosis of internal oblique

Lower wall: 2 Ligaments:

· inguinal Ligament

· lacunar Ligament

Posterior wall: 2Ts:

· Transversalis fascia

· conjoint Tendon

block

guestin onsurgical
classical

puberty 9 testicularsize becauseof

teslereneproduction

Hypothalamic–pituitary–gonadal axis

Clinical examination of the testes

•
Wash hands, introduction, chaperone

•
Full abdominal examination

•
Standing then lie flat, ask about pain before

laying
•
Palpation, warm hands! hardon

mceasacwereteseseftsaua.me
•
Describe masses felt ctuenmeaeweitlpatief

oftestes
•

Lymph nodes 4mmrepresents

a

2025mmisadultsize

•
Think about differential diagnoses of lumps in the groin

egHernia

indirectx

direct

an femoral

inguinal

11

orchidometer

Testicular dysgenesis

noticed

mainly

during

adult

testocator calcification whods

caranoma

an chargeinto

Burns WR et al. Is male infertility a forerunner to cancer? Int Braz J Urol 2010;36(5):527-536

balesmaybeabsent descendarmtime

may Cryptorchidism

moreimportant
racheckedin femalesaswell
gpalpable

T
•
Also known as ‘impalpable’ or ‘undescended’ testes repealed

check
Baby 6 weeks
•
Bilateral vs unilateralconurecommon less important couldbe environmental every

in easingprevalence
•
Majority of cases have no discernible aetiology – environmental

factors have been implicated

pffchirdismemgqfa.by
babyismaleorfemale
maybegirl must do

kayotyping urgently.Ctodredeof

•
Long term consequences on testicular function, including

spermatogenesis, and risk of testicular cancer inbodytemperature

willaffectfesces
• Part of ‘testicular dysgenesis syndrome’ retainedtoolongin

retrobody
geneticcauses

•
Retained testis often smaller, suggesting prenatal testicular

maldevelopment Hothappeningproperly
•
Changes caused by the position itself can add further damage

• TDs

More severe testicular dysgenesis = more severe cryptorchidism
includes

hypospadiasmicropesisreducedsemenqualitytesticularcancer hypospadias


Classification

•
Position K

•
Position over time

•
Aetiological factors

•
Retractile

always
examine

canal

Inguinal
appropriately

as itcould
be

herniaand lowinguinal

nottestes hightscrotum

Any undescended testis after the age of 6 months should be

referred for orchidopexy prefertooperatea year

Greduceinfertily risks
testocatercareer


May

be along normal route of descent or ectopic

vs bilateral

Unilateral

Palpable

vs non palpable

Spontaneousdescent spontaneous asart

Retractiletestis

is normal variant

Prevalence

i
I

present
presentation

showsa

huge
increase

in
incidence

Virtanen HE et al. Cryptorchidism: classification, prevalence and long-term consequences. Acta Paediatr. 2007;96:611-6.


Risk factors

•
Birthweight <2.5kg

•
Small for gestational age

•
Prematurity

•
Maternal diabetes, including gestational diabetes

Environmental factors may also play a role for the risk of

cryptorchidism:
•
Organochlorines, phthalate monoesters, smoking have been linked to adverse effects

in infant reproductive development

environmental consequences
mainlycaused by

Placental insufficiency Decreased HCGsureties

Lowmaternal oeshoon levels

Cryptorchidism as part of an underlying disease

Cryptorchidism – common Cryptorchidism - unusual

Aarskog Aniridia – Wilms tumor association

mostimportantare
Fraser Apert

Noonan
f Beckwith-Wiedemann
chromosomaldefects

Rubinstein-Taybi DeLange

Prune Belly Downs 10 higherriskthannormalpopulation

Smith-Lemli-Opitz Treacher-Collins

Rubinow

Cryphonhidism with ambiguous genitalia

needs immediate work
up CAB SARI

with needs immediate workup

Phenotypically make
ayptonhidem

Virtanen HE et al. Cryptorchidism: classification, prevalence and long-term consequences. Acta Paediatr. 2007;96:611-6.


Semen quality and cryptorchidism

•
Adult men with persistent bilateral cryptorchidism have

azoospermia, whereas 28% after operation have normal sperm

count

•
49% of men with persistent unilateral cryptorchidism have a

normal sperm concentration as compared to 71% after

orchidopexy

•
Earlier surgery (between 10 months and 4 years) preferable in

bilateral cryptorchidism Tabest late

surgery too

20 10 ml as lowest normal are

WHO criteria

Cryptorchidism and testicular cancer

•
Well established risk factor for testicular neoplasia

•
5% of testicular cancer

•
Bilateral carries a higher risk of malignancy

t hetestical
• ask
Risk greatest if testis is intra-abdominal higher thehigher

Location

•
Early orchidopexy / spontaneous descent not associated with

increased risk

Investigations

•
Ultrasound Coo

characters

f 0
female
•
CT / MRI detecther

canalso
•
Laparoscopy araedmetryrarelyused

dose
radiation
inulasik

• Consider karyotype Bilateralacryp all Arcuilateral

Notrequired

Biochemical tests

consequence a orchipexy

removalof

testes

Treatment

•
Operative treatment in centre with expertise paediatricsurgeon

•
Laparoscopy for non-palpable testis

•
One stage vs two stage dependsonanytestesaresitting

•
Should be carried out at age 6-18 months

•
Clinical examination 12 months post op / for bilat cases follow up

at puberty tocheck if testes
movedagain

usuallyraretogetcomplications
•
Immediate complications are haematoma, pain, wound infection

Long term complications are testicular atrophy, recurrent

cryptorchidism because things

damageddung

ultrasound hivellarce Surgery that

aleedeleshealer
growth

 Hormonal treatment
and if besteroneirproduced beefswud
stimulatesleydigcells
• hCG stimulation test hen
4 Bloodbest
invasive day2,3 day
injection
• LHRH test testherHypothalamus fairly
looking ifgonadsare
working testosterone mustbe
baseline
• Tut releasing
Overall
hormone
efficacy of approx 20% gonads highfailure
doubletree
www.ghuttfSH nearing L au
welang
descend
• Efficacy depends on initial position of testis abdominal lesslikelywillnaturally
• Up to 25% re-ascend later on highriskof marker Sertolitest her
descend
recurrent Amittest
inguinal

• Side effects of hormonal treatment include pain, penile growth,

unsettling
groin pain, behavioural problems, temporary inflammatory
changes in the testes, reduced testicular volume in adulthood ifform
treatmen
• Age dependent (most harm at 1-3 years) infertility
dose
repagilelestes

ordnipe'T etypotyping
traipexy

armed
actor
up
 Hypospadias

• Most common congenital anomaly of the penis

• 1 in 300 births
• Usually develops sporadically and without an obvious underlying
cause associatedwithgeneticproblem

• Ectopically positioned urethral meatus lies proximal to the normal

site and on the ventral aspect of the penis, and in severe cases
opens on to the scrotum
• Chordee and hooded foreskin common
l folded
curvature of penis

• Associated with cryptorchidism and inguinal hernia otheranomalies

• Frequency of associated anomalies increases with the severity of
hypospadias
anomalies e die
oftenassociatedwithmany
cardiovascular
Hypo g
Foreskin on ventralsurface Hypospadias
is deficient

Permed
one
common
urethrawrong
in position
most

Glanula
r
Distal
Subcoronal
Distal
Penile
Mid
Midshaft

Proximal
Penoscrotal
Penile
I Scrota
Pro
l
sina.de
Perineal
x

associated
other
with
problems

on dorsal aspect
 I 1
Causes of hypospadias
uterus
wk820in oslereer
• Cause not always clear lackoft.es
critical
duringthe
• Hormonal fluctuations – testosterone, progesterone period
m pregnancy
• Advanced maternal age check
• Assisted pregnancies – IVF
• Teratogenic drugs / endocrine disruptor chemicals eqprenatal
paracetamol
• Reduced sensitivity to androgens
• Genetic factors 52genescheckup I
maternalthaby
maternaloestrogenalledeholm
Environmental abouthow

Diethylslibestol
 Treatment

• Surgery
• Advise against circumcision
• Hormonal treatment prior to surgery DHTtreatment to
reducesize of
urethrabut
testes and9sizeof
healingtune
severe
hypospadia
more butallectwound
her nolongerused
• Multiple procedures, mucosal grafting
graftherurethra
development
more
• Scarring, curvature, strictures, fistula may occur
I infection
uningaltract

18Months of age 2gears

toilettraining athisage

9askofardiouascakrdisease.at
youngage
 Disorders of Sex Development

• Any congenital condition in which development of chromosomal,

gonadal or anatomic sex is atypical definite

• 1 in 300 to 1 in 4,500 births

• Chicago consensus 2005

• Rare disorders, but crucial to get it right

• Multidisciplinary team working neonatal surgeons paediatrics

ff
biochemist t genetics
fwmparentalh
psychologist duetodiffexpectation
chord viewpoints
 Revised classification of DSD

I 0 O
Disorder of Disorder of Disorder of Disorder of Leydig cell

figdwenosomes
gonadal
development
Comp gonadal dysgenesis
androgen
synthesis
StAR
androgen
action
PAIS
C
androgen
excess
21αhydroxylase
I
defect

Leydig cell hypoplasia

Partial gonadal dysgenesis P450 scc CAIS 11βhydroxylase LH deficiency
Primary Gonadal regression 3β-HSD Other Aromatase
Root Ovotesticular DSD CYP17 P450 OR
Testicular DSD 17βHSD Maternal androgens
5α reductase
P450 OR

Secondary fmduuoeisluedisordercgorads.cnnogers Actual

Root Diagnosis may
0
Persistent Defects of Non-specific disorder of Other

G O O
Mullerian Duct Mullerian undermasculinisation
Syndrome development
nipYw
AMH low MURCS Isolated hypospadias Cloacal Anomaly
AMH normal MRKH Isolated bilat cryptorchidism Bladder Exstrophy
AMH not known Uterine Isolated micropenis Smith Lemli Opitz Synd
Didelphys Anomalies EMS >8 Other
Other Anomalies EMS 5-8
Anomalies EMS <5
 How common are Disorders of Sex Development

Birth New Number of

prevalenc per yr in
cases patients < 20yr
e Scotlan
Hypospadias (distal) * 1 in 12
d 20 2400
Hypospadias (mid) * 200
1 in 0
58 1160
Hypospadias (prox) * 450
1 in 28 56
CAH (21 hydroxylase) 1 900
in 14 3 0
64
CAH others 000 000
1 in 200 < 10
Androgen Insensitivity 1 in 40 1< 24
Gonadal dysgenesis 000 000
1 in 100 <1 10
True hermaphroditism 1 in 100 000 1
< 10
Othe 1 in 100 000 1
< 10
r 1
Total (excl dist & mid hypospadias) ~ ~
36 688
*Based on 25000 male births per year
 of
pathway steroids
knocked
problemsinany thegene
of out eg Hsp178
Any
t
no
testosterone

Krone N et al. Gas chromatography/mass spectrometry (GC/MS) remains a pre-eminent discovery tool in clinical steroid
investigations even in the era of fast liquid chromatography tandem mass spectrometry (LC/MS/MS). J Steroid Biochem
Mol Biol. 2010;121:496-504.
 Congenital adrenal hyperplasia

O
Gait losing
D theysickatbirth
5 alpha reductase deficiency

testesdevelopment
R 29
 Presentation in the newborn

- Overt Genital Ambiguity

- Apparent female genitalia with enlarged clitoris

posterior labial fusion
inguinal/labial mass

- Apparent male genitalia bilateral undescended testes

micropenis
hypospadias

- Family history of DSD such as CAIS

- Discordance between genital appearance and prenatal karyotype

 Management

• All newborn infants should receive a male or female sex

assignment
• Where there is doubt, hasty decisions should be avoided
• Need for multidisciplinary team
• Strict confidence
• Open communication

n
• Surgical management
• Sex steroid replacement H
• Psychosocial management
 Thank you

Any Questions?

olucas hoaed glaegow.ac.uk

argela