L6 - Ambiguous Genitalia.pdf23456787TRE5

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1. University of Baghdad
College of Medicine
2024-2025
Title: Ambiguous Genitalia
Grade: FourthGrade
Module: Surgery Module
Speaker: Dr. FirasSabah Al-Ali
M.B.Ch.B, F.I.C.M.S (URO.), C.A.B.M.S (URO.)

2. University of Baghdad/College of Medicine2022-2023

3. University of Baghdad/College of Medicine2022-2023
Learning Objectives
Todefinetheambiguousgenitalia.
Toknowsomepointsontheembryological
developmentofthehumangenitalia.
Toclassifyintersexuality.
Tooutlinethemanagementofpatientswith
DSD. 3

4. University of Baghdad/College of Medicine2022-2023
Ambiguous Genitalia
Abirthdefectofthesexorgans.
Oneinevery4,500births.
Amixtureofbothfemaleandmaleparts.
Thecausesincludegeneticvariations,hormonal
imbalancesandmalformationsofthefetaltissuesthat
aresupposedtoevolveintogenitals.

5. University of Baghdad/College of Medicine2022-2023
Intersex In History
Sumerian–Nibru4000B.C.
AccordingtotheUNOfficeofthe
HighCommissionerforHuman
Rights,"donotfittypicalbinary
notionsofmaleorfemalebodies".
Historically termed
hermaphrodites, "congenital
eunuchs",orevencongenitally
"frigid".
Suchtermshavefallenoutoffavor

6. University of Baghdad/College of Medicine2022-2023
Sexual Differentiation
Determinationofgeneticsex(XXorXY)
Thedevelopmentofthetestesrequires
thepresenceofSRYgene

7. University of Baghdad/College of Medicine2022-2023
Sexual Determination During Embryo
Development

8. University of Baghdad/College of Medicine2022-2023
Embryo cont.

9. University of Baghdad/College of Medicine2022-2023
Classification Of Intersexuality
1.VirilizationofgeniticallyfemalefoetusDSD(XX-MALE)
2.Incompletemusculinizationofgeniticallymalefoetus
DSD(XY-FEMALE)
3.Thepresenceofbothovarianandtesticulartissuein
thesame individualTruehermaphrodites
(ovotesticularsyndome)
4.ChromosomalabnormalityMixedgonadaldysgenesis(
45,X0/46,XY)

10. University of Baghdad/College of Medicine2022-2023
Female Pseudohemaphroditism
(XX-MALE)
MostcommonDSD
Ovaries&mullerianderivativesarenormal
Sexualambiguityislimitedtomasculinization
oftheexternalgenitalia
CAHaccountsforthemajorityof46XXDSD
patients
Inactivatingorlossoffunctionmutationsin
genes:CYP21&CYP11B1
Affectedmalehavenogenitalabnormalities

11. University of Baghdad/College of Medicine2022-2023

12. University of Baghdad/College of Medicine2022-2023
CAH cont.

13. University of Baghdad/College of Medicine2022-2023
Male Pseudohermaphroditism
(XY-FEMALE)
i.TesticularunresponsivenesstohCG&LH
ii.Enzymedefectsintestosteronebiosynthesis
iii.Defectsinandrogendependenttargettissues
iv.Adefectintheenzymaticconversionof
testosteronetodihydrotestosterone

14. University of Baghdad/College of Medicine2022-2023
Cont.
v.Defectsinthesynthesis,secretion,or
responsetoAMHorMIS
vi.Aberrationsintesticulargonadogenesis
vii.Primarytesticularfailure
viii.Exogenousinsult

15. University of Baghdad/College of Medicine2022-2023
LeydigCell Aplasia

16. University of Baghdad/College of Medicine2022-2023

17. University of Baghdad/College of Medicine2022-2023
Enzyme Defects In Testosterone Biosynthesis

18. University of Baghdad/College of Medicine2022-2023
Defects In Androgen Dependent Target Tissues
(AIS)

19. University of Baghdad/College of Medicine2022-2023
AIS cont.

20. University of Baghdad/College of Medicine2022-2023
CAIS

21. University of Baghdad/College of Medicine2022-2023
Defect In The Enzymatic Conversion

22. University of Baghdad/College of Medicine2022-2023
Persistent MullerianDuct Syndrome
Rare
AR
LackofMISorAMHaction
Resultinginthepresenceofmullerianstructuresina
normallymasculinizedXYmale
PMDSisduetoeitheramutationintheAMHgeneora
defectintheAMHtypeIIreceptor

23. University of Baghdad/College of Medicine2022-2023
PMDS

24. University of Baghdad/College of Medicine2022-2023
Aberrations In Testicular Gonadogenesis

25. University of Baghdad/College of Medicine2022-2023
True Hermaphrodites
OvotesticularDSD
Presenceofbothovarian&testiculartissue
Classifiedintothreegroups:Lateral,Bilateral,and
Unilateral
Ambiguousgenitalia
Resultfromsexchromosomemosaicism
46XXisthemostcommonkaryotype

26. University of Baghdad/College of Medicine2022-2023
Patient Evaluation
Karyotype
Serumelectrolytes
17OH-progesterone
T,LH,andFSHlevels
Ultrasound

27. University of Baghdad/College of Medicine2022-202346XX DSD

28. University of Baghdad/College of Medicine2022-202346XY DSD

29. University of Baghdad/College of Medicine2022-2023
Treatment Options

30. University of Baghdad/College of Medicine2022-2023
PSYCHOLOGICAL SUPPORT FOR THE
PARENTS
Showthebabytotheparents
Counselbothparentstogether
Whattotelltheparents?
Thebabyishealthybuttheexternalgenitaliais
incompletelydeveloped&testsarenecessaryto
determinethesex
Thereareotherbabieswithsimilarcondition
ANo.oftreatableconditionscanresultinatypical
genitalia

31. University of Baghdad/College of Medicine2022-2023
Treatment Options
Assign the baby definite gender : Parental counselling.
Surgery-for example, an overly large clitoris may be
trimmed
or a fused vulva separated
or undescendedtesticles
relocated into the scrotum.
Counsellingfor the child.
Hormone therapy.

32. University of Baghdad/College of Medicine2022-2023
DSD Is Not The End Of Life
Sarah Gronert(July 1986)
Intersex
Surgery at the age of 19
Legally considered to be a
women
Retired tennis player
Won a total of ten titles
on the ITF circuit in her
career

33. University of Baghdad/College of Medicine2022-2023
Summary
Ambiguousgenitaliaisabirthdefectofthesexorgans
thatmakesitunclearwhetheranaffectednewbornisa
girlorboy.
Causesinclude:geneticvariations,hormonal
imbalances&malformationsofthefetaltissuesthat
wouldhaveotherwiseevolvedintogenitals.
Treatmentaimsatassigningthebabyaspecificgender.
Treatmentoptionsincludecorrectivesurgery,hormone
therapy,peersupport&counselling.

34. University of Baghdad/College of Medicine2022-2023
Thank You