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Disorders of Sex Development
Osama M Warda MD
Prof. of OBS/GYN
Mansoura University
﷽
Definition
-  “Intersex” is a general term used for a variety of
conditions in which a person is born with a
reproductive or sexual anatomy that doesn’t seem
to fit the typical definitions of female or male.
-  Recently, some doctors, scholars, and intersex
activists have shifted to employing the term
“Disorders of Sex Developments” (DSDs) rather
than “intersex,” particularly in the medical context
as the term intersex is imprecise.
-----------------
ISNA= Intersex Society of North America
O Warda 228 March 2017
Old term New term
Intersex Disorders of sex development
(DSD)
Male pseudohermaphrodite:
Undervirilization of an XY male
Undermasculanization of an XY
male
46 XY DSD
Female pseudohermaphrodite
Overvirilization of an XX female
Masculanization of an XX female
46 XX DSD
True hermaphrodite Ovotesticular DSD
XX male or XX sex reversal 46 XX testicular DSD
XY sex reversal 46 XY complete gonadal
dysgenesis
28 March 2017 O Warda 3
NewNomenclature
Introduction
Ambiguous genitalia, currently defined as disorders of
sex development (DSD), are not uncommon in our
community.With our oriental traditions and believes,
DSD constitute a complex, major social and medical
emergency, as several forms of congenital adrenal
hyperplasia can lead to significant salt loss, which may
lead to shock -if unrecognised and not appropriately
treated.
To ensure that the affected individual has a high quality
of life , medical practitioners must quickly and correctly
assign the individual’s gender and effectively relieve the
family’s concerns and anxiety.
28 March 2017 O Warda 4
Normal Sexual Differentiation
Normal sexual development comprises of 3
main steps:
1.  Effect of Sex Chromosomes on
Gonadal Differentiation.
2.  Proper Functioning of the
DifferentiatedTestes .
3.  Response of End-organs to
Testicular activity.
O Warda 528 March 2017
Effect of Sex Chromosome
on Gonadal Differentiation
!  Sex chromosome has only one function to
perform in sexual development ; i.e. to
determine the final morphology of the
undifferentiated gonad;
Ø Presence of (Y) gonads are testes.
Ø Absence of (Y) gonads are ovaries.
!  A normal male must have 1-X & 1-Y while
a normal female must have 1-X & 1-X.
O Warda 628 March 2017
Mechanism by Which theY Chromosome
PromotesTesticular Differentiation
n This is done through a single determinant gene called
Testicular Determinant Factor (TDF).
n TDF is present on distal short arm of Y-chromosome
n TDF begins its action at 6-7 weeks intrauterine.
n Loss of TDF leads to gonadal dysgenesis.
n If TDF transfer to X-chromosome leads to XX-male.
n TDF produces its actions via encoding & expressing 3
proteins; H-Y-antigen ,ZFY-& SRY.
------------------------
H-Y= histocompitability antigen onY : ZFY= zinc finger protein: SRY=sex determining regionY
O Warda 728 March 2017
Proper Functioning of the
DifferentiatedTestes
-The testes produce their intrauterine
function by producing 2 substances:
1-Testosterone (T) 2- Antimullerian hormone (AMH)
-Testosterone gives rise to development of:
1-External genitalia (T DHT)
2- Internal genitalia (T) direct effect
-  AMH gives rise to:
1- inhibition of the mullerian structures.
2- descent of the testes into scrotum via
contracting the gubernaculum.
3- extra-mullerian function.
O Warda 8
5a -reductase
28 March 2017
O Warda 928 March 2017
+_
Normal sexual differentiation
GONADS INTERNAL
GENITALIA
EXTERNAL
GENITALIA
TIMING (I U) 7-9Week 8-11 Week 8-20 Week
EMBRYONIC
ORIGIN
Genital ridge Wolffian (male)
Mullerian (female)
-genital tubercle
-genital fold
- Genital swelling
DETERMINIG
FACTOR
TDF (encoded
as SRY gene
onYp)
Testosterone
Anti-mullerian H.
Di-hydro-
testosterone
Masculinization of the male external genitalia is complete by 14th week
Feminization of the female external genitalia is complete by 20th week
O Warda 1028 March 2017
O Warda 11
Rt. Mullerian
(paramesonephric
duct)
Lt.Wolffian
(mesonephric duct)
Developmentofinternalgenitalia
28 March 2017
O Warda 1228 March 2017
Developmentofexternalgenitalia
O Warda 1328 March 2017
CLASSIFICATIONS OF
ABNORMAL SEXUAL DIFFERENTIATION
A simple, etiologically-based classification
proceeds according to gonadal morphology
proposed by (Speroff, 1999):
1.  Female (46XX) DSD ( previously female pseudo-
hermaphroditism) = posses ovaries + masculine
external genitalia
II.  Male (46XY) DSD (previously male pseudo-
hermaphroditism) = posses testes + external ( and
sometimes internal) genitalia take on female
phenotype.
III.  True (Mixed 46xx/46xy) DSD (previously
true hermaphrodite) = posses both ovarian &
testicular tissue
O Warda 1428 March 2017
ACCORDINGTOGONADALMORPHOLOGY
Classification of DSDs (ISNA 2006)
Disorders of sex development (DSDs) are defined as
conditions involving the following elements:
1- Congenital development of ambiguous genitalia
(e.g., 46,XX virilizing congenital adrenal hyperplasia;
clitoromegaly; micropenis)
2- Congenital disjunction of internal and external sex
anatomy (e.g., Complete Androgen Insensitivity
Syndrome; 5-alpha reductase deficiency)
3-Incomplete development of sex anatomy (e.g.,
vaginal agenesis; gonadal agenesis)
4- Sex chromosome anomalies (e.g.,Turner Syndrome;
Klinefelter Syndrome; sex chromosome mosaicism)
5-Disorders of gonadal development (e.g., ovotestes)
O Warda 1528 March 2017
ACCORDINGTOUNDERLYINGETIOLOGY
O Warda 16
-
28 March 2017
ClassificationAccordingtokaryotype
46XX46XY
Etiology of DSD
The etiology is either disorder
of fetal endocrinology or
disorder in gonadal development
O Warda 1728 March 2017
Etiology of DSD
I- Disorders of fetal endocrinology:
A- 46XX DSD (Masculinized females) :
1-Conginital adrenal hyperplasia
2- Elevated androgens in maternal circulation
3- Aromatase (P450 arom) deficiency
B- 46XY DSD (Incompletely Masculinized males)
1- Androgen insensitivity syndromes
2- 5 α - reductase deficiency
3- Enzymatic testosterone biosynthesis defect
4- Gonadotropin resistant testes
5- AMH deficiency.
O Warda 1828 March 2017
Etiology of Intersexuality (cont.,)
II- Disorders of gonadal development
A- 46XY Complete gonadal dysgenesis:
1- Primary gonadal defect (Swyer’s syndrome)
2- Anorchia (No testes)
B- Ovotesticular DSD (True hermaphroditism)
C- Gonadal dysgenesis
1- Turner syndrome
2- Mosaicism
3- Normal karyotype (Noonan Syndrome)
O Warda 1928 March 2017
Congenital Adrenal Hyperplasia [CAH]
!  Definition :Congenital adrenal hyperplasia (CAH) are
any of several autosomal recessive diseases resulting
from mutations of genes for enzymes mediating the
biochemical steps of production of
mineralocorticoids, glucocorticoids or sex steroids
from cholesterol by the adrenal glands
(steroidogenesis)*
!  Incidence: the most common, 45%
!  Sub-types:
1- 21 hyroxylase deficiency ( classic CAH- commonest)
2- 11 β hyroxylase deficiency
3- 3 β hydroxy-steriod dehydrogenase deficiency
4- 17 α hyroxylase deficiency
5- PORD (P450 oxido-reductase deficiency)
O Warda 2028 March 2017
Adrenal Steroidogenesis in (CAH)
28 March 2017 O Warda 21
Han,T. S. et al. (2013) Treatment and health outcomes in adults with congenital adrenal hyperplasia
Nat. Rev. Endocrinol. doi:10.1038/nrendo.2013.239
28 March 2017 O Warda 22
CAH- clinical manifestations
!  21hydroxylase deficiency (75%-Classic type):
1- simple virilizing type (classic-CAH)
2- salt losing type 3- hypertensive type
!  Common clinical manifestation
A- Masculinization of external genitalia
1- Clitoris 2- Labioscrotal 3- Labia majoa
4-Vagina 5- Progressive virilization post-natal
à(heterosexual precocious puberty)
B- Metabolic disorders
1- salt losing type (aldosterone deficiency)
2- hypertensive type 3- hypoglycemia
Males are not affected by the classic type of CAH
28 March 2017 O Warda 23
CAH-clinical manifestations
!  11-β hydroxylase deficiency patients are
protected from the symptoms associated with
adrenal crisis, although they are subject to
others such as hypertension due to salt
retention and ambiguous genitalia in females.
!  17α-hydroxylase deficiency results in
ambiguous external genitalia in males and lack of
pubertal development or menstrual cycles
(amenorrhea) in females.
!  3-β-hydroxysteroid dehydrogenase
deficiency leads to ambiguous genitalia in males
and females. In both genders it can lead to salt-
wasting.
28 March 2017 O Warda 24
!  Congenital lipoid adrenal hyperplasia may cause
early death due to adrenal crisis. Males have
ambiguous genitalia. Both males and females, if
they survive, would likely be infertile.
!  PORD (P450 oxidoreductase deficiency)
presents with signs and symptoms that may
resemble 21-hydroxylase deficiency, 17-
hydroxylase deficiency, or a combination of the
two enzyme deficiencies. Some cases have been
associated with a skeletal disorder known as
Antley-Bixler syndrome.
28 March 2017 O Warda 25
CAH-clinical manifestations
28 March 2017 O Warda 26
CAH- DIAGNOSIS
A- Prenatal:
1- CAH is autosomal recessive
2- detection of elevated amniotic fluid levels of
(17 OHP , 21 deoxycortisol & androstendione)
3- molecular genetic diagnosis ( CVS) Ò most
accurate.
B- Postnatal:
1- Clinical: ambiguous genitalia: no palpable testes
2- 17 OHP in blood 3- plasma renin activity
4- Urinary 17 ketosteriod
5- others (karyotype, USS)
O Warda 2728 March 2017
O Warda 28
CAH- DIAGNOSIS
28 March 2017
Prader A (1954)
28 March 2017 O Warda 29
This  girl  with  CAH  was  8  years  old  and  was  admi6ed  to  
MUH  for  plastic  correction.  She  was  3years  old  when  her  
mother  noticed  the  masculine  change  of  vulva.    Note  how  can  
the  clitoris  and  labia  minora  be  like    penis,  while  the  labia  
majora  turns  into  scrotum-­‐‑like  structure.	
O Warda 3028 March 2017
O Warda 3128 March 2017
46XX /CAH
46XY/CAH
CAH-TREATMENT
PRENATALTREATMENT
-The rationale for prenatal treatment is to treat the
fetus with a glucocorticoid (dexamethazone DEX) via
the mother, in order to suppress the fetal adrenal
androgen production that is increased in fetuses
with severe forms of CAH (the salt-wasting and
simple virilizing variants).
- Indicated in mother that has previously given birth
to a child with severe CAH at 6-7th week of next
pregnancy.
O Warda 3228 March 2017
CAH-TREATMENT
PRENATALTREATMENT
!  The dose given is 20 µg/kg body weight/day,
based on pre-pregnancy weight and maximum
1.5 mg/day, in three divided doses.
!  A few weeks later, around week 12, prenatal
diagnosis is performed on fetal DNA obtained
from a chorionic villous biopsy (CVS).
!  In healthy fetuses and in CAH affected boys
treatment will be stopped while affected girls
will be treated until term.
O Warda 3328 March 2017
CAH-TREATMENT
Post-natal treatment
A- Medical:
1- hydrocortisone (10 mg/day) OR
2- prednisone (3.5-5 mg/m2 surface area] monitoring of
treatment by 17 OHP (range 500 – 4000 ng/dl)
B- Surgical:
1- general consideration
- Patient is genetically female and potentially fertile.
- Surgical correction must be after medical control .
-  Parents must be counseled about the procedure
2-Surgical procedures:
◦  Reduction of clitoris size (amputation, clitoral recession)
◦  Division of labio-scrotal folds (introito-plasty)
O Warda 3428 March 2017
Androgen Insensitivity Syndromes
(AIS)
1- Complete androgen insensitivity (CAIS); testicular
feminization=TFS= [Morris syndrome]*.
2- Incomplete androgen insensitivity (PAIS
=Reifenstein syndrome]
3- 5 α reductase deficiency
---------------------------
* Note that the complete androgen insensitivity does not present as
ambiguous genitalia but presents at puberty as primary amenorrhea as
the phenotype and genitalia are like normal females
O Warda 3528 March 2017
Androgen insensitivity syndrome
(CAIS=TFS)
O Warda 3628 March 2017
Androgen insensitivity syndrome
incomplete form (Reifenstien syndrome)
O Warda 37
QUIGLEY STAGING OF ANDROGEN INSENSITIVITY SYNDROME
28 March 2017
Androgen insensitivity syndrome
incomplete form (Reifenstien syndrome)
O Warda 3828 March 2017
O Warda 3928 March 2017
O Warda 4028 March 2017
Androgen insensitivity syndrome
Management
28 March 2017 O Warda 41
Management of AIS is currently limited to
symptomatic management; methods to correct a
malfunctioning androgen receptor protein that result
from an AR gene mutation are not currently
available.Areas of management include:
•  Sex assignment,
•  Genitoplasty,
•  Gonadectomy in relation to tumor risk,
•  Hormone replacement therapy, and
•  Genetic and psychological counseling.
Androgen Insensitivity Syndromes
(COMPLETE form) –Management
A- Diagnosis: Clinical, hormonal profiles, Karyotype
B- General consideration (TFS-Complete form)
1- Rearing as female ( complete form only)
2- Other members of the family must be
investigated (x-linked diseases)
3- Patients are sterile female
C- Treatment options:
1-Gonadectomy (malignancy is a risk after 25 ys)
2- Neo-vagina (when needed)
3- Psychotherapy
O Warda 4228 March 2017
28 March 2017 O Warda 43
-  Treatment with testosterone may improve the
chance that a boy will be able to have children
when he grows up.
•  Other common measures are followed Sex
assignment, Genitoplasty, Gonadectomy in relation to
tumor risk, Hormone replacement therapy, and
Genetic and psychological counseling.
--------------
* P-AIS=partial androgen insensitivity syndrome
Androgen Insensitivity Syndromes
(P-AIS)* –Management
Disorders of Gonadal Development
n  Abnormal gonadogenesis may occur as a result of structural
defect or disease related catastrophes leading to loss of fetal
gonadal function.
n  Abnormal gonadal development is classified as follows:
A- Male (46XY) DSD:
1- Bilateral testicular dysgensis (Swyer syndrome)
2- Anorchia
B- Ovotesticular DSD (true hermaphroditism).
C- Gonadal dysgensis
1- Turner syndrome 2- Mosaicism
3- Normal karyotype (Noonan syndrome)
O Warda 4428 March 2017
Swyer syndrome :46,XY complete gonadal dysgenesis.
-  Swyer syndrome occurs in approximately 1 in 80,000 people.
-  Mutations in the SRY gene have been identified in approximately 15
percent of cases.
-  Most cases of Swyer syndrome are not inherited; they occur in people
with no history of the condition in their family
-  In Swyer syndrome, individuals with 46xy karyotype but have female
reproductive structures; typical female external genitalia.The uterus
and fallopian tubes are normally-formed, but the gonads are not
functional (streak gonads).
-  Because of the lack of development of the gonads, Swyer syndrome is
also called 46,XY complete gonadal dysgenesis.
-  The residual gonadal tissue often becomes cancerous, so it is usually
removed surgically .
-  People with Swyer syndrome are typically raised as girls and have a
female gender identity.
O Warda 4528 March 2017
Noonan’s syndrome
!  Noonan syndrome is a condition that affects many areas of
the body. It is characterized by mildly unusual facial features,
short stature, heart defects, bleeding problems, skeletal
malformations, and many other signs and symptoms.
!  People with Noonan syndrome have distinctive facial
features such as a deep groove in the area between the
nose and mouth (philtrum), widely spaced eyes that are
usually pale blue or blue-green in color, and low-set ears
that are rotated backward, high-arched palate, poor teeth
alignment, and a small lower jaw (micro-gnathia).Webbed
neck and a low hairline at the back of the neck.
O Warda 4628 March 2017
28 March 2017 O Warda 47
Noonansyndrome
Islamic guidelines for
management of DSD*
The current Islamic recommendations put
forward by the senior Ulama Council in Saudi
Arabia as well as the experiences of local medical
practitioners yield a set of very useful general
guidelines.These recommendations are translated
as follows:
1)  A sex-change operation (i.e., converting
someone with a completely developed gender to
the opposite sex) is totally prohibited, and it is
even considered criminal in accordance with the
Holy Quran and the Prophet’s sayings.
28 March 2017 O Warda 48
2)  Those who have both male and female organs
require further investigation, and if the evidence is
more suggestive of a male gender, then it is permissible
to treat the individual medically (by hormones or
surgery) to eliminate his ambiguity and to raise him as
a male. If the evidence is suggestive of a female gender,
then it is permissible to treat her medically (by
hormones or surgery) to eliminate her ambiguity and
to raise her as a female.
3)  Physicians must explain the results of medical
investigations to the child’s guardians and whether the
evidence indicates that the child is male or female so
that guardians are well-informed.
28 March 2017 O Warda 49
Islamic guidelines for
management of DSD*
28 March 2017 O Warda 50
28 March 2017 O Warda 51
CAH
3B - dehydrogenase block in male
Androgen: Normal or slight increase
Signs of adrenal failure
Normal 17OHP
laparatomy
gonadectomy
1- incomplete androgen insensit.
2-5a. reductase def. 3-true herma.
4- mixed gond. dysg.
5- abnorm. androg. synth.
Normal androgen
Normal 17 OHP
X-Y Karyotype
Karyotype, Androgen, 17OHP.
28 March 2017
Managment of Ambiguous Genitalia
O Warda 52
Managment of Ambiguous Genitalia
CAH
21-hydroxylase
11B-hydroxylase
Increase Adrogens
Increase 17OPH
Elevated
androgens in maternal circulation
Laparotomy
Gonadectomy
true hermaphrod. or gonadal dysgenesis
Normal Adrogens
Normal 17OPH
XXKaryotype Y - Contianing Abnormal Karyotype
Karyotype, Androgen, 17OHP
28 March 2017
Cont.
O Warda 53
T H A N K Y O U
References :
!  Gönül Öçal .Current Concepts in Disorders of Sexual Development . Clin
Res Ped Endo 2011;3(3):105-114
!  INTERSEX ; Sociologists for Women in Society Fact Sheet Prepared by
Maura Kelly, Department of Sociology, University of Connecticut
Spring 2007
!  Deutscher Ethikrat. Intersexuality opinion. Published by the German
Ethics Council, Berlin 2013
!  Genetics Home Reference
!  Clinical Guidelines for the Management of Disorders of Sex
Development in Childhood. Copyright © 2006 Intersex Society of
North America
!  Adina F.Turcu and Richard J.Auchus*.Adrenal Steroidogenesis
and Congenital Adrenal Hyperplasia. Endocrinol Metab Clin North Am.
2015 June ; 44(2): 275–296. doi:10.1016/j.ecl.2015.02.002.
!  Nasir AM Al JurAyyan. Disorders of Sex Development: Diagnostic
Approaches and Management Options— An Islamic Perspective.
Malaysian J Med Sci. Jul-Sep 2011; 18(3): 4-12 4 www.mjms.usm.my © Penerbit
Universiti Sains Malaysia, 2011
O Warda 5428 March 2017

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Disorders of Sex Development- O Warda

  • 1. Disorders of Sex Development Osama M Warda MD Prof. of OBS/GYN Mansoura University ﷽
  • 2. Definition -  “Intersex” is a general term used for a variety of conditions in which a person is born with a reproductive or sexual anatomy that doesn’t seem to fit the typical definitions of female or male. -  Recently, some doctors, scholars, and intersex activists have shifted to employing the term “Disorders of Sex Developments” (DSDs) rather than “intersex,” particularly in the medical context as the term intersex is imprecise. ----------------- ISNA= Intersex Society of North America O Warda 228 March 2017
  • 3. Old term New term Intersex Disorders of sex development (DSD) Male pseudohermaphrodite: Undervirilization of an XY male Undermasculanization of an XY male 46 XY DSD Female pseudohermaphrodite Overvirilization of an XX female Masculanization of an XX female 46 XX DSD True hermaphrodite Ovotesticular DSD XX male or XX sex reversal 46 XX testicular DSD XY sex reversal 46 XY complete gonadal dysgenesis 28 March 2017 O Warda 3 NewNomenclature
  • 4. Introduction Ambiguous genitalia, currently defined as disorders of sex development (DSD), are not uncommon in our community.With our oriental traditions and believes, DSD constitute a complex, major social and medical emergency, as several forms of congenital adrenal hyperplasia can lead to significant salt loss, which may lead to shock -if unrecognised and not appropriately treated. To ensure that the affected individual has a high quality of life , medical practitioners must quickly and correctly assign the individual’s gender and effectively relieve the family’s concerns and anxiety. 28 March 2017 O Warda 4
  • 5. Normal Sexual Differentiation Normal sexual development comprises of 3 main steps: 1.  Effect of Sex Chromosomes on Gonadal Differentiation. 2.  Proper Functioning of the DifferentiatedTestes . 3.  Response of End-organs to Testicular activity. O Warda 528 March 2017
  • 6. Effect of Sex Chromosome on Gonadal Differentiation !  Sex chromosome has only one function to perform in sexual development ; i.e. to determine the final morphology of the undifferentiated gonad; Ø Presence of (Y) gonads are testes. Ø Absence of (Y) gonads are ovaries. !  A normal male must have 1-X & 1-Y while a normal female must have 1-X & 1-X. O Warda 628 March 2017
  • 7. Mechanism by Which theY Chromosome PromotesTesticular Differentiation n This is done through a single determinant gene called Testicular Determinant Factor (TDF). n TDF is present on distal short arm of Y-chromosome n TDF begins its action at 6-7 weeks intrauterine. n Loss of TDF leads to gonadal dysgenesis. n If TDF transfer to X-chromosome leads to XX-male. n TDF produces its actions via encoding & expressing 3 proteins; H-Y-antigen ,ZFY-& SRY. ------------------------ H-Y= histocompitability antigen onY : ZFY= zinc finger protein: SRY=sex determining regionY O Warda 728 March 2017
  • 8. Proper Functioning of the DifferentiatedTestes -The testes produce their intrauterine function by producing 2 substances: 1-Testosterone (T) 2- Antimullerian hormone (AMH) -Testosterone gives rise to development of: 1-External genitalia (T DHT) 2- Internal genitalia (T) direct effect -  AMH gives rise to: 1- inhibition of the mullerian structures. 2- descent of the testes into scrotum via contracting the gubernaculum. 3- extra-mullerian function. O Warda 8 5a -reductase 28 March 2017
  • 9. O Warda 928 March 2017 +_
  • 10. Normal sexual differentiation GONADS INTERNAL GENITALIA EXTERNAL GENITALIA TIMING (I U) 7-9Week 8-11 Week 8-20 Week EMBRYONIC ORIGIN Genital ridge Wolffian (male) Mullerian (female) -genital tubercle -genital fold - Genital swelling DETERMINIG FACTOR TDF (encoded as SRY gene onYp) Testosterone Anti-mullerian H. Di-hydro- testosterone Masculinization of the male external genitalia is complete by 14th week Feminization of the female external genitalia is complete by 20th week O Warda 1028 March 2017
  • 11. O Warda 11 Rt. Mullerian (paramesonephric duct) Lt.Wolffian (mesonephric duct) Developmentofinternalgenitalia 28 March 2017
  • 12. O Warda 1228 March 2017
  • 14. CLASSIFICATIONS OF ABNORMAL SEXUAL DIFFERENTIATION A simple, etiologically-based classification proceeds according to gonadal morphology proposed by (Speroff, 1999): 1.  Female (46XX) DSD ( previously female pseudo- hermaphroditism) = posses ovaries + masculine external genitalia II.  Male (46XY) DSD (previously male pseudo- hermaphroditism) = posses testes + external ( and sometimes internal) genitalia take on female phenotype. III.  True (Mixed 46xx/46xy) DSD (previously true hermaphrodite) = posses both ovarian & testicular tissue O Warda 1428 March 2017 ACCORDINGTOGONADALMORPHOLOGY
  • 15. Classification of DSDs (ISNA 2006) Disorders of sex development (DSDs) are defined as conditions involving the following elements: 1- Congenital development of ambiguous genitalia (e.g., 46,XX virilizing congenital adrenal hyperplasia; clitoromegaly; micropenis) 2- Congenital disjunction of internal and external sex anatomy (e.g., Complete Androgen Insensitivity Syndrome; 5-alpha reductase deficiency) 3-Incomplete development of sex anatomy (e.g., vaginal agenesis; gonadal agenesis) 4- Sex chromosome anomalies (e.g.,Turner Syndrome; Klinefelter Syndrome; sex chromosome mosaicism) 5-Disorders of gonadal development (e.g., ovotestes) O Warda 1528 March 2017 ACCORDINGTOUNDERLYINGETIOLOGY
  • 16. O Warda 16 - 28 March 2017 ClassificationAccordingtokaryotype 46XX46XY
  • 17. Etiology of DSD The etiology is either disorder of fetal endocrinology or disorder in gonadal development O Warda 1728 March 2017
  • 18. Etiology of DSD I- Disorders of fetal endocrinology: A- 46XX DSD (Masculinized females) : 1-Conginital adrenal hyperplasia 2- Elevated androgens in maternal circulation 3- Aromatase (P450 arom) deficiency B- 46XY DSD (Incompletely Masculinized males) 1- Androgen insensitivity syndromes 2- 5 α - reductase deficiency 3- Enzymatic testosterone biosynthesis defect 4- Gonadotropin resistant testes 5- AMH deficiency. O Warda 1828 March 2017
  • 19. Etiology of Intersexuality (cont.,) II- Disorders of gonadal development A- 46XY Complete gonadal dysgenesis: 1- Primary gonadal defect (Swyer’s syndrome) 2- Anorchia (No testes) B- Ovotesticular DSD (True hermaphroditism) C- Gonadal dysgenesis 1- Turner syndrome 2- Mosaicism 3- Normal karyotype (Noonan Syndrome) O Warda 1928 March 2017
  • 20. Congenital Adrenal Hyperplasia [CAH] !  Definition :Congenital adrenal hyperplasia (CAH) are any of several autosomal recessive diseases resulting from mutations of genes for enzymes mediating the biochemical steps of production of mineralocorticoids, glucocorticoids or sex steroids from cholesterol by the adrenal glands (steroidogenesis)* !  Incidence: the most common, 45% !  Sub-types: 1- 21 hyroxylase deficiency ( classic CAH- commonest) 2- 11 β hyroxylase deficiency 3- 3 β hydroxy-steriod dehydrogenase deficiency 4- 17 α hyroxylase deficiency 5- PORD (P450 oxido-reductase deficiency) O Warda 2028 March 2017
  • 21. Adrenal Steroidogenesis in (CAH) 28 March 2017 O Warda 21 Han,T. S. et al. (2013) Treatment and health outcomes in adults with congenital adrenal hyperplasia Nat. Rev. Endocrinol. doi:10.1038/nrendo.2013.239
  • 22. 28 March 2017 O Warda 22
  • 23. CAH- clinical manifestations !  21hydroxylase deficiency (75%-Classic type): 1- simple virilizing type (classic-CAH) 2- salt losing type 3- hypertensive type !  Common clinical manifestation A- Masculinization of external genitalia 1- Clitoris 2- Labioscrotal 3- Labia majoa 4-Vagina 5- Progressive virilization post-natal à(heterosexual precocious puberty) B- Metabolic disorders 1- salt losing type (aldosterone deficiency) 2- hypertensive type 3- hypoglycemia Males are not affected by the classic type of CAH 28 March 2017 O Warda 23
  • 24. CAH-clinical manifestations !  11-β hydroxylase deficiency patients are protected from the symptoms associated with adrenal crisis, although they are subject to others such as hypertension due to salt retention and ambiguous genitalia in females. !  17α-hydroxylase deficiency results in ambiguous external genitalia in males and lack of pubertal development or menstrual cycles (amenorrhea) in females. !  3-β-hydroxysteroid dehydrogenase deficiency leads to ambiguous genitalia in males and females. In both genders it can lead to salt- wasting. 28 March 2017 O Warda 24
  • 25. !  Congenital lipoid adrenal hyperplasia may cause early death due to adrenal crisis. Males have ambiguous genitalia. Both males and females, if they survive, would likely be infertile. !  PORD (P450 oxidoreductase deficiency) presents with signs and symptoms that may resemble 21-hydroxylase deficiency, 17- hydroxylase deficiency, or a combination of the two enzyme deficiencies. Some cases have been associated with a skeletal disorder known as Antley-Bixler syndrome. 28 March 2017 O Warda 25 CAH-clinical manifestations
  • 26. 28 March 2017 O Warda 26
  • 27. CAH- DIAGNOSIS A- Prenatal: 1- CAH is autosomal recessive 2- detection of elevated amniotic fluid levels of (17 OHP , 21 deoxycortisol & androstendione) 3- molecular genetic diagnosis ( CVS) Ò most accurate. B- Postnatal: 1- Clinical: ambiguous genitalia: no palpable testes 2- 17 OHP in blood 3- plasma renin activity 4- Urinary 17 ketosteriod 5- others (karyotype, USS) O Warda 2728 March 2017
  • 28. O Warda 28 CAH- DIAGNOSIS 28 March 2017 Prader A (1954)
  • 29. 28 March 2017 O Warda 29
  • 30. This  girl  with  CAH  was  8  years  old  and  was  admi6ed  to   MUH  for  plastic  correction.  She  was  3years  old  when  her   mother  noticed  the  masculine  change  of  vulva.    Note  how  can   the  clitoris  and  labia  minora  be  like    penis,  while  the  labia   majora  turns  into  scrotum-­‐‑like  structure. O Warda 3028 March 2017
  • 31. O Warda 3128 March 2017 46XX /CAH 46XY/CAH
  • 32. CAH-TREATMENT PRENATALTREATMENT -The rationale for prenatal treatment is to treat the fetus with a glucocorticoid (dexamethazone DEX) via the mother, in order to suppress the fetal adrenal androgen production that is increased in fetuses with severe forms of CAH (the salt-wasting and simple virilizing variants). - Indicated in mother that has previously given birth to a child with severe CAH at 6-7th week of next pregnancy. O Warda 3228 March 2017
  • 33. CAH-TREATMENT PRENATALTREATMENT !  The dose given is 20 µg/kg body weight/day, based on pre-pregnancy weight and maximum 1.5 mg/day, in three divided doses. !  A few weeks later, around week 12, prenatal diagnosis is performed on fetal DNA obtained from a chorionic villous biopsy (CVS). !  In healthy fetuses and in CAH affected boys treatment will be stopped while affected girls will be treated until term. O Warda 3328 March 2017
  • 34. CAH-TREATMENT Post-natal treatment A- Medical: 1- hydrocortisone (10 mg/day) OR 2- prednisone (3.5-5 mg/m2 surface area] monitoring of treatment by 17 OHP (range 500 – 4000 ng/dl) B- Surgical: 1- general consideration - Patient is genetically female and potentially fertile. - Surgical correction must be after medical control . -  Parents must be counseled about the procedure 2-Surgical procedures: ◦  Reduction of clitoris size (amputation, clitoral recession) ◦  Division of labio-scrotal folds (introito-plasty) O Warda 3428 March 2017
  • 35. Androgen Insensitivity Syndromes (AIS) 1- Complete androgen insensitivity (CAIS); testicular feminization=TFS= [Morris syndrome]*. 2- Incomplete androgen insensitivity (PAIS =Reifenstein syndrome] 3- 5 α reductase deficiency --------------------------- * Note that the complete androgen insensitivity does not present as ambiguous genitalia but presents at puberty as primary amenorrhea as the phenotype and genitalia are like normal females O Warda 3528 March 2017
  • 37. Androgen insensitivity syndrome incomplete form (Reifenstien syndrome) O Warda 37 QUIGLEY STAGING OF ANDROGEN INSENSITIVITY SYNDROME 28 March 2017
  • 38. Androgen insensitivity syndrome incomplete form (Reifenstien syndrome) O Warda 3828 March 2017
  • 39. O Warda 3928 March 2017
  • 40. O Warda 4028 March 2017
  • 41. Androgen insensitivity syndrome Management 28 March 2017 O Warda 41 Management of AIS is currently limited to symptomatic management; methods to correct a malfunctioning androgen receptor protein that result from an AR gene mutation are not currently available.Areas of management include: •  Sex assignment, •  Genitoplasty, •  Gonadectomy in relation to tumor risk, •  Hormone replacement therapy, and •  Genetic and psychological counseling.
  • 42. Androgen Insensitivity Syndromes (COMPLETE form) –Management A- Diagnosis: Clinical, hormonal profiles, Karyotype B- General consideration (TFS-Complete form) 1- Rearing as female ( complete form only) 2- Other members of the family must be investigated (x-linked diseases) 3- Patients are sterile female C- Treatment options: 1-Gonadectomy (malignancy is a risk after 25 ys) 2- Neo-vagina (when needed) 3- Psychotherapy O Warda 4228 March 2017
  • 43. 28 March 2017 O Warda 43 -  Treatment with testosterone may improve the chance that a boy will be able to have children when he grows up. •  Other common measures are followed Sex assignment, Genitoplasty, Gonadectomy in relation to tumor risk, Hormone replacement therapy, and Genetic and psychological counseling. -------------- * P-AIS=partial androgen insensitivity syndrome Androgen Insensitivity Syndromes (P-AIS)* –Management
  • 44. Disorders of Gonadal Development n  Abnormal gonadogenesis may occur as a result of structural defect or disease related catastrophes leading to loss of fetal gonadal function. n  Abnormal gonadal development is classified as follows: A- Male (46XY) DSD: 1- Bilateral testicular dysgensis (Swyer syndrome) 2- Anorchia B- Ovotesticular DSD (true hermaphroditism). C- Gonadal dysgensis 1- Turner syndrome 2- Mosaicism 3- Normal karyotype (Noonan syndrome) O Warda 4428 March 2017
  • 45. Swyer syndrome :46,XY complete gonadal dysgenesis. -  Swyer syndrome occurs in approximately 1 in 80,000 people. -  Mutations in the SRY gene have been identified in approximately 15 percent of cases. -  Most cases of Swyer syndrome are not inherited; they occur in people with no history of the condition in their family -  In Swyer syndrome, individuals with 46xy karyotype but have female reproductive structures; typical female external genitalia.The uterus and fallopian tubes are normally-formed, but the gonads are not functional (streak gonads). -  Because of the lack of development of the gonads, Swyer syndrome is also called 46,XY complete gonadal dysgenesis. -  The residual gonadal tissue often becomes cancerous, so it is usually removed surgically . -  People with Swyer syndrome are typically raised as girls and have a female gender identity. O Warda 4528 March 2017
  • 46. Noonan’s syndrome !  Noonan syndrome is a condition that affects many areas of the body. It is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms. !  People with Noonan syndrome have distinctive facial features such as a deep groove in the area between the nose and mouth (philtrum), widely spaced eyes that are usually pale blue or blue-green in color, and low-set ears that are rotated backward, high-arched palate, poor teeth alignment, and a small lower jaw (micro-gnathia).Webbed neck and a low hairline at the back of the neck. O Warda 4628 March 2017
  • 47. 28 March 2017 O Warda 47 Noonansyndrome
  • 48. Islamic guidelines for management of DSD* The current Islamic recommendations put forward by the senior Ulama Council in Saudi Arabia as well as the experiences of local medical practitioners yield a set of very useful general guidelines.These recommendations are translated as follows: 1)  A sex-change operation (i.e., converting someone with a completely developed gender to the opposite sex) is totally prohibited, and it is even considered criminal in accordance with the Holy Quran and the Prophet’s sayings. 28 March 2017 O Warda 48
  • 49. 2)  Those who have both male and female organs require further investigation, and if the evidence is more suggestive of a male gender, then it is permissible to treat the individual medically (by hormones or surgery) to eliminate his ambiguity and to raise him as a male. If the evidence is suggestive of a female gender, then it is permissible to treat her medically (by hormones or surgery) to eliminate her ambiguity and to raise her as a female. 3)  Physicians must explain the results of medical investigations to the child’s guardians and whether the evidence indicates that the child is male or female so that guardians are well-informed. 28 March 2017 O Warda 49 Islamic guidelines for management of DSD*
  • 50. 28 March 2017 O Warda 50
  • 51. 28 March 2017 O Warda 51
  • 52. CAH 3B - dehydrogenase block in male Androgen: Normal or slight increase Signs of adrenal failure Normal 17OHP laparatomy gonadectomy 1- incomplete androgen insensit. 2-5a. reductase def. 3-true herma. 4- mixed gond. dysg. 5- abnorm. androg. synth. Normal androgen Normal 17 OHP X-Y Karyotype Karyotype, Androgen, 17OHP. 28 March 2017 Managment of Ambiguous Genitalia O Warda 52
  • 53. Managment of Ambiguous Genitalia CAH 21-hydroxylase 11B-hydroxylase Increase Adrogens Increase 17OPH Elevated androgens in maternal circulation Laparotomy Gonadectomy true hermaphrod. or gonadal dysgenesis Normal Adrogens Normal 17OPH XXKaryotype Y - Contianing Abnormal Karyotype Karyotype, Androgen, 17OHP 28 March 2017 Cont. O Warda 53
  • 54. T H A N K Y O U References : !  Gönül Öçal .Current Concepts in Disorders of Sexual Development . Clin Res Ped Endo 2011;3(3):105-114 !  INTERSEX ; Sociologists for Women in Society Fact Sheet Prepared by Maura Kelly, Department of Sociology, University of Connecticut Spring 2007 !  Deutscher Ethikrat. Intersexuality opinion. Published by the German Ethics Council, Berlin 2013 !  Genetics Home Reference !  Clinical Guidelines for the Management of Disorders of Sex Development in Childhood. Copyright © 2006 Intersex Society of North America !  Adina F.Turcu and Richard J.Auchus*.Adrenal Steroidogenesis and Congenital Adrenal Hyperplasia. Endocrinol Metab Clin North Am. 2015 June ; 44(2): 275–296. doi:10.1016/j.ecl.2015.02.002. !  Nasir AM Al JurAyyan. Disorders of Sex Development: Diagnostic Approaches and Management Options— An Islamic Perspective. Malaysian J Med Sci. Jul-Sep 2011; 18(3): 4-12 4 www.mjms.usm.my © Penerbit Universiti Sains Malaysia, 2011 O Warda 5428 March 2017