AMBIGUOUS GENITALIAAMBIGUOUS GENITALIAAMBIGUOUS GENITALIAAMBIGUOUS GENITALIAAMBIGUOUS GENITALIAAMBIGUOUS GENITALIAAMBIGUOUS GENITALIAAMBIGUOUS GENITALIA(DISORDERS OF SEXUAL DEVELOPMENT(DISORDERS OF SEXUAL DEVELOPMENT))

AMBIGUOUS GENITALIAAMBIGUOUS GENITALIAAMBIGUOUS GENITALIAAMBIGUOUS GENITALIAAMBIGUOUS GENITALIAAMBIGUOUS GENITALIAAMBIGUOUS GENITALIAAMBIGUOUS GENITALIA(DISORDERS OF SEXUAL DEVELOPMENT(DISORDERS OF SEXUAL DEVELOPMENT))

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(DISORDERS OF SEXUAL DEVELOPMENT(DISORDERS OF SEXUAL DEVELOPMENT))(DISORDERS OF SEXUAL DEVELOPMENT(DISORDERS OF SEXUAL DEVELOPMENT))

Dr. HAKIMI, Dr. HAKIMI, Dr. HAKIMI, Dr. HAKIMI, Dr. HAKIMI, Dr. HAKIMI, Dr. HAKIMI, Dr. HAKIMI, SpAKSpAKSpAKSpAKSpAKSpAKSpAKSpAK

Dr. MELDA DELIANA, Dr. MELDA DELIANA, Dr. MELDA DELIANA, Dr. MELDA DELIANA, Dr. MELDA DELIANA, Dr. MELDA DELIANA, Dr. MELDA DELIANA, Dr. MELDA DELIANA, SpAKSpAKSpAKSpAKSpAKSpAKSpAKSpAK

Dr. SISKA MAYASARI LUBIS, Dr. SISKA MAYASARI LUBIS, Dr. SISKA MAYASARI LUBIS, Dr. SISKA MAYASARI LUBIS, Dr. SISKA MAYASARI LUBIS, Dr. SISKA MAYASARI LUBIS, Dr. SISKA MAYASARI LUBIS, Dr. SISKA MAYASARI LUBIS, SpASpASpASpASpASpASpASpAPediatric Endocrinology division USU/H. ADAM MALIK HOSPITALPediatric Endocrinology division USU/H. ADAM MALIK HOSPITALPediatric Endocrinology division USU/H. ADAM MALIK HOSPITALPediatric Endocrinology division USU/H. ADAM MALIK HOSPITALPediatric Endocrinology division USU/H. ADAM MALIK HOSPITALPediatric Endocrinology division USU/H. ADAM MALIK HOSPITALPediatric Endocrinology division USU/H. ADAM MALIK HOSPITALPediatric Endocrinology division USU/H. ADAM MALIK HOSPITAL

• Normal sexual determination and differentiation Normal sexual determination and differentiation Normal sexual determination and differentiation Normal sexual determination and differentiation ���� interaction of developmental factors interaction of developmental factors interaction of developmental factors interaction of developmental factors (chromosomal, gonadal and hormonal)(chromosomal, gonadal and hormonal)(chromosomal, gonadal and hormonal)(chromosomal, gonadal and hormonal)

• Intersex Intersex Intersex Intersex ���� Disagreement or inconsistency between Disagreement or inconsistency between Disagreement or inconsistency between Disagreement or inconsistency between

INTRODUCTIONINTRODUCTIONINTRODUCTIONINTRODUCTION

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���� Disagreement or inconsistency between Disagreement or inconsistency between Disagreement or inconsistency between Disagreement or inconsistency between chromosomal, gonadal and phenotypic sexchromosomal, gonadal and phenotypic sexchromosomal, gonadal and phenotypic sexchromosomal, gonadal and phenotypic sex���� may or may not result in ambiguous genitaliamay or may not result in ambiguous genitaliamay or may not result in ambiguous genitaliamay or may not result in ambiguous genitalia

• Ambiguous genitaliaAmbiguous genitaliaAmbiguous genitaliaAmbiguous genitalia���� An atypical or confusing external An atypical or confusing external An atypical or confusing external An atypical or confusing external

genitalia appearancegenitalia appearancegenitalia appearancegenitalia appearance

• The term intersex and others The term intersex and others The term intersex and others The term intersex and others ���� controversial and controversial and controversial and controversial and confusing to practitioners and patients alike.confusing to practitioners and patients alike.confusing to practitioners and patients alike.confusing to practitioners and patients alike.

New term “New term “Disorders of Sex Development (DSD)”Disorders of Sex Development (DSD)”

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• Management DSDManagement DSDManagement DSDManagement DSD : multidisciplinary approach : multidisciplinary approach : multidisciplinary approach : multidisciplinary approach ���� hormonal, surgical and gender reassignmenthormonal, surgical and gender reassignmenthormonal, surgical and gender reassignmenthormonal, surgical and gender reassignment

DSD DSD : a congenital conditions in which development of : a congenital conditions in which development of chromosomal, gonadal and anatomic sex is atypicalchromosomal, gonadal and anatomic sex is atypical

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• Basically Basically Basically Basically intersex disordersintersex disordersintersex disordersintersex disorders were classified into:were classified into:were classified into:were classified into:– Male Pseudohermaphroditism (MPH)Male Pseudohermaphroditism (MPH)Male Pseudohermaphroditism (MPH)Male Pseudohermaphroditism (MPH)– Female Pseudohermaphroditism (FPH)Female Pseudohermaphroditism (FPH)Female Pseudohermaphroditism (FPH)Female Pseudohermaphroditism (FPH)– Gonadal Dysgenesis (GD)Gonadal Dysgenesis (GD)Gonadal Dysgenesis (GD)Gonadal Dysgenesis (GD)– True Hermaphroditism (TH)True Hermaphroditism (TH)True Hermaphroditism (TH)True Hermaphroditism (TH)

CLASSIFICATIONCLASSIFICATIONCLASSIFICATIONCLASSIFICATION

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• Proposed nomenclature has simplify into 3 Proposed nomenclature has simplify into 3 Proposed nomenclature has simplify into 3 Proposed nomenclature has simplify into 3 categories :categories :categories :categories :

– 46, XX DSD 46, XX DSD 46, XX DSD 46, XX DSD – Sex chromosome DSDSex chromosome DSDSex chromosome DSDSex chromosome DSD– 46, XY DSD46, XY DSD46, XY DSD46, XY DSD

Previous Proposed

•Intersex•Male Pseudohermaphroditism, undervirilization of an XY male, and undermasculinization of an XY male•Female Pseudohermaphroditism,

•DSD•46, XY DSD

•46, XX DSD

Table 1. Proposed Revised NomenclatureTable 1. Proposed Revised Nomenclature

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•Female Pseudohermaphroditism, overvirilization of an XX female, and masculinization of an XX female• True Hermaphroditism•XX male or XX sex reversal•XY sex reversal

•46, XX DSD

•Ovotesticular DSD•46, XX testicular DSD•46, XY complete gonadal dysgenesis

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• Most common cause of DSDMost common cause of DSDMost common cause of DSDMost common cause of DSD• Occur in 60Occur in 60Occur in 60Occur in 60----70% of Ambiguous genitalia70% of Ambiguous genitalia70% of Ambiguous genitalia70% of Ambiguous genitalia• Ovotesticular DSDOvotesticular DSDOvotesticular DSDOvotesticular DSD

– 10% of children with ambiguous genitalia10% of children with ambiguous genitalia10% of children with ambiguous genitalia10% of children with ambiguous genitalia– Children have both ovarian and testicular tissueChildren have both ovarian and testicular tissueChildren have both ovarian and testicular tissueChildren have both ovarian and testicular tissue

46, XX DSD46, XX DSD46, XX DSD46, XX DSD

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– Children have both ovarian and testicular tissueChildren have both ovarian and testicular tissueChildren have both ovarian and testicular tissueChildren have both ovarian and testicular tissue• Testis in 1 side and ovary on contralateralTestis in 1 side and ovary on contralateralTestis in 1 side and ovary on contralateralTestis in 1 side and ovary on contralateral• OvoOvoOvoOvo----testis on 1 side and normal gonad on testis on 1 side and normal gonad on testis on 1 side and normal gonad on testis on 1 side and normal gonad on

contralateralcontralateralcontralateralcontralateral• Bilateral ovoBilateral ovoBilateral ovoBilateral ovo----testestestestestestestes

– Appearance : from extremely virilized to Appearance : from extremely virilized to Appearance : from extremely virilized to Appearance : from extremely virilized to extremely feminizedextremely feminizedextremely feminizedextremely feminized

Sub classification Clinical condition

A. Disorders of gonad (ovary) development

1. Gonad dysgenesis2. Ovotesticular DSD3. Testicular DSD (e.g SRY+, dup SOX9, RSPO1)

B. Androgen excess 1. Fetal 3 beta-hydroxysteroid dehydrogenase II deficiency21 hydroxylase deficiencyP450 oxoreductase deficiency (POR)11 beta-hydroxylase deficiency

Table 2. Classification of 46,XX DSD (Hughes et Table 2. Classification of 46,XX DSD (Hughes et Table 2. Classification of 46,XX DSD (Hughes et Table 2. Classification of 46,XX DSD (Hughes et Table 2. Classification of 46,XX DSD (Hughes et Table 2. Classification of 46,XX DSD (Hughes et Table 2. Classification of 46,XX DSD (Hughes et Table 2. Classification of 46,XX DSD (Hughes et al, 2006)al, 2006)al, 2006)al, 2006)al, 2006)al, 2006)al, 2006)al, 2006)

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11 beta-hydroxylase deficiencyGlucucorticoid receptor mutations

2. FetoplacentalAromatase deficiencyOxoreductase deficiency

3. Maternal Maternal virilizing tumor (e.g luteoma)Androgenic drugs

C. Other 1. Syndromic association (e.g cloacal anomalies)2. Mullerian agenesis / hypoplasia (e.g MURCS)3. Uterine abnomalities (e.g MODY5)4. Vaginal atresia (e.g McKusick-Kaufman)5. Labial adhesion

• The common cause :The common cause :The common cause :The common cause : Congenital Adrenal Hyperplasia Congenital Adrenal Hyperplasia Congenital Adrenal Hyperplasia Congenital Adrenal Hyperplasia (CAH)(CAH)(CAH)(CAH)

• 95% of CAH95% of CAH95% of CAH95% of CAH– Hypocortisolism Hypocortisolism Hypocortisolism Hypocortisolism – Enzyme 21Enzyme 21Enzyme 21Enzyme 21----hydroxylase deficiency hydroxylase deficiency hydroxylase deficiency hydroxylase deficiency – Increased 17Increased 17Increased 17Increased 17----hydroxy progesterone or 17hydroxy progesterone or 17hydroxy progesterone or 17hydroxy progesterone or 17----OHP OHP OHP OHP – Manifest as virilization (clitoromegaly, acne, etc)Manifest as virilization (clitoromegaly, acne, etc)Manifest as virilization (clitoromegaly, acne, etc)Manifest as virilization (clitoromegaly, acne, etc)– Cortisol substitution Cortisol substitution Cortisol substitution Cortisol substitution ���� less masculine and potentially less masculine and potentially less masculine and potentially less masculine and potentially

fertilefertilefertilefertile

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fertilefertilefertilefertile– May cause Addison’s CrisisMay cause Addison’s CrisisMay cause Addison’s CrisisMay cause Addison’s Crisis– Newborn female CAH Newborn female CAH Newborn female CAH Newborn female CAH ���� presence of ambiguous presence of ambiguous presence of ambiguous presence of ambiguous

genitaliagenitaliagenitaliagenitalia– Newborn male CAH Newborn male CAH Newborn male CAH Newborn male CAH ���� similar symptoms with similar symptoms with similar symptoms with similar symptoms with

Hyperthropic Pyloric Stenosis (HPS), to differentiate it :Hyperthropic Pyloric Stenosis (HPS), to differentiate it :Hyperthropic Pyloric Stenosis (HPS), to differentiate it :Hyperthropic Pyloric Stenosis (HPS), to differentiate it :• CAH : hyperkalemia, metabolic acidosisCAH : hyperkalemia, metabolic acidosisCAH : hyperkalemia, metabolic acidosisCAH : hyperkalemia, metabolic acidosis• HPS : hypokalemia, matabolic alkalosisHPS : hypokalemia, matabolic alkalosisHPS : hypokalemia, matabolic alkalosisHPS : hypokalemia, matabolic alkalosis

• Common cause : Androgen Insensitivity Syndrome Common cause : Androgen Insensitivity Syndrome Common cause : Androgen Insensitivity Syndrome Common cause : Androgen Insensitivity Syndrome (AIS)(AIS)(AIS)(AIS)

• AIS : Testosterone synthesis and secretions normalAIS : Testosterone synthesis and secretions normalAIS : Testosterone synthesis and secretions normalAIS : Testosterone synthesis and secretions normalDefect in androgen receptorDefect in androgen receptorDefect in androgen receptorDefect in androgen receptor

46, XY DSD46, XY DSD46, XY DSD46, XY DSD

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Defect in androgen receptorDefect in androgen receptorDefect in androgen receptorDefect in androgen receptorClassified as partial and complete AISClassified as partial and complete AISClassified as partial and complete AISClassified as partial and complete AIS

• PAIS : Presence of ambiguous genitaliaPAIS : Presence of ambiguous genitaliaPAIS : Presence of ambiguous genitaliaPAIS : Presence of ambiguous genitalia• CAIS : Presence of femoral hernia or CAIS : Presence of femoral hernia or CAIS : Presence of femoral hernia or CAIS : Presence of femoral hernia or

amenorrhea in a phenotypic femaleamenorrhea in a phenotypic femaleamenorrhea in a phenotypic femaleamenorrhea in a phenotypic female

46,XY DSD … 46,XY DSD …

Sub classification Clinical condition

A. Disorders of gonad (testis) development

1. Complete or partial gonadal dysgenesis (e.g SRY, SOX9, SF1, WT1, DHH, XH-2, duplication of DAX-1 genes, 9p &10p depletion)

2. Ovotesticular DSD3. Testis regression

B. Disorders in androgen synthesis or action

1. Disorder in androgen synthesisLH receptor mutationsSmith-lemli-Opitz syndromeSTAR mutationCholesterol side chain cleavage3 beta-hydroxysteroid dehydrogenase II

Table 3. Classification of 46,XY DSDTable 3. Classification of 46,XY DSD

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3 beta-hydroxysteroid dehydrogenase IIP450 oxoreductase17 beta-hydroxysteroid dehydrogenase II5 alfa reductase II

2. Disorders of androgen actionAndrogen Insensitivity SyndromeDrugs and environmental modulations

C. Other 1. Syndromic association of male genital development2. Persistent Mullerian Duct Syndrome3. Vanishing Testis Syndrome4. Isolated Hypospadias (e.g CXorf6)5. Congenital hypogonadotrophic hypogonadism6. Cryptorchidism7. Environmental influences

• Turner & Klinifelter Syndrome Turner & Klinifelter Syndrome Turner & Klinifelter Syndrome Turner & Klinifelter Syndrome ���� no ambiguous genitaliano ambiguous genitaliano ambiguous genitaliano ambiguous genitalia• Mixed gonadal dysgenesis Mixed gonadal dysgenesis Mixed gonadal dysgenesis Mixed gonadal dysgenesis ���� External genitalia varies from External genitalia varies from External genitalia varies from External genitalia varies from

ambiguous to normal appearanceambiguous to normal appearanceambiguous to normal appearanceambiguous to normal appearance• Chromosomal Y should be removed because of the high risk of Chromosomal Y should be removed because of the high risk of Chromosomal Y should be removed because of the high risk of Chromosomal Y should be removed because of the high risk of

gonadoblastomagonadoblastomagonadoblastomagonadoblastoma

SEX CHROMOSOME DSDSEX CHROMOSOME DSDSEX CHROMOSOME DSDSEX CHROMOSOME DSD

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A. 46, XXY ( Klinifelter Syndrome and Variants )

B. 45, X ( Turner Syndrome and Variants )

C. 45, X / 46, XY ( Mixed gonadal dysgenesis, ovotesticular DSD )

D. 46, XX / 46, XY ( Chimerism, ovotesticular DSD)

Table 4. Classification of Sex Chromosome DSD Table 4. Classification of Sex Chromosome DSD

• Diagnostic based on :History, Physical examination, Diagnostic based on :History, Physical examination, Diagnostic based on :History, Physical examination, Diagnostic based on :History, Physical examination, and Investigations and Investigations and Investigations and Investigations • Criteria that suggest DSD:Criteria that suggest DSD:Criteria that suggest DSD:Criteria that suggest DSD:

1.1.1.1. Over genital ambiguity (e.g cloacal extrophy)Over genital ambiguity (e.g cloacal extrophy)Over genital ambiguity (e.g cloacal extrophy)Over genital ambiguity (e.g cloacal extrophy)2.2.2.2. Apparent female genitalia with an enlarged clitoris, Apparent female genitalia with an enlarged clitoris, Apparent female genitalia with an enlarged clitoris, Apparent female genitalia with an enlarged clitoris, posterior labial fusion, or an inguinal / labial massposterior labial fusion, or an inguinal / labial massposterior labial fusion, or an inguinal / labial massposterior labial fusion, or an inguinal / labial mass

DIAGNOSTICDIAGNOSTICDIAGNOSTICDIAGNOSTIC

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posterior labial fusion, or an inguinal / labial massposterior labial fusion, or an inguinal / labial massposterior labial fusion, or an inguinal / labial massposterior labial fusion, or an inguinal / labial mass3.3.3.3. Apparent male genitalia with bilateral undescended Apparent male genitalia with bilateral undescended Apparent male genitalia with bilateral undescended Apparent male genitalia with bilateral undescended testes, micropenis, isolated perineal hypospadias testes, micropenis, isolated perineal hypospadias testes, micropenis, isolated perineal hypospadias testes, micropenis, isolated perineal hypospadias or mild hypospadias with undescended testisor mild hypospadias with undescended testisor mild hypospadias with undescended testisor mild hypospadias with undescended testis4.4.4.4. A family history of DSD such as CAISA family history of DSD such as CAISA family history of DSD such as CAISA family history of DSD such as CAIS5.5.5.5. A discordance between genital appearance and A discordance between genital appearance and A discordance between genital appearance and A discordance between genital appearance and prenatal karyotypeprenatal karyotypeprenatal karyotypeprenatal karyotype

• Pregnancy historyPregnancy historyPregnancy historyPregnancy history���� progressive androgenization (e.g aromatase progressive androgenization (e.g aromatase progressive androgenization (e.g aromatase progressive androgenization (e.g aromatase deficiency) deficiency) deficiency) deficiency) or miscarriage (e.g CYP11A1 or miscarriage (e.g CYP11A1 or miscarriage (e.g CYP11A1 or miscarriage (e.g CYP11A1 deficiency), or that ended deficiency), or that ended deficiency), or that ended deficiency), or that ended in early in early in early in early infant infant infant infant deaths (e.g salt losing CAH)deaths (e.g salt losing CAH)deaths (e.g salt losing CAH)deaths (e.g salt losing CAH)

• Maternal hormonal or drug ingestion (e.g androgenic Maternal hormonal or drug ingestion (e.g androgenic Maternal hormonal or drug ingestion (e.g androgenic Maternal hormonal or drug ingestion (e.g androgenic drug)drug)drug)drug)

• Family history of ambiguity or infertilityFamily history of ambiguity or infertilityFamily history of ambiguity or infertilityFamily history of ambiguity or infertility

HISTORYHISTORYHISTORYHISTORY

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• Family history of ambiguity or infertilityFamily history of ambiguity or infertilityFamily history of ambiguity or infertilityFamily history of ambiguity or infertility• Gender reassignment at pubertyGender reassignment at pubertyGender reassignment at pubertyGender reassignment at puberty• Absent pubertyAbsent pubertyAbsent pubertyAbsent puberty• Accelarated linear growthAccelarated linear growthAccelarated linear growthAccelarated linear growth• Skeletal abnormalitiesSkeletal abnormalitiesSkeletal abnormalitiesSkeletal abnormalities• Learning difficultiesLearning difficultiesLearning difficultiesLearning difficulties• SyndactilySyndactilySyndactilySyndactily• FitsFitsFitsFits• Developmental delayDevelopmental delayDevelopmental delayDevelopmental delay

• No pathoNo pathoNo pathoNo pathoggggnomonic physical featurenomonic physical featurenomonic physical featurenomonic physical feature• Dysmorphic featureDysmorphic featureDysmorphic featureDysmorphic feature• Failure to thriveFailure to thriveFailure to thriveFailure to thrive• HyperpigmentationHyperpigmentationHyperpigmentationHyperpigmentation• Acne in prepubertalAcne in prepubertalAcne in prepubertalAcne in prepubertal• Hypertension Hypertension Hypertension Hypertension ���� CAHCAHCAHCAH• Presence or absence of palpable gonads in scrotum or Presence or absence of palpable gonads in scrotum or Presence or absence of palpable gonads in scrotum or Presence or absence of palpable gonads in scrotum or

PHYSICAL EXAMINATIONPHYSICAL EXAMINATIONPHYSICAL EXAMINATIONPHYSICAL EXAMINATION

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• Presence or absence of palpable gonads in scrotum or Presence or absence of palpable gonads in scrotum or Presence or absence of palpable gonads in scrotum or Presence or absence of palpable gonads in scrotum or inguinal canalinguinal canalinguinal canalinguinal canal

• Genital examination : phallus size, shape, location of Genital examination : phallus size, shape, location of Genital examination : phallus size, shape, location of Genital examination : phallus size, shape, location of urethral meatusurethral meatusurethral meatusurethral meatus

• Hyperthrophy clitorisHyperthrophy clitorisHyperthrophy clitorisHyperthrophy clitoris• Examination of scrotum or labiaExamination of scrotum or labiaExamination of scrotum or labiaExamination of scrotum or labia• Rectal examination Rectal examination Rectal examination Rectal examination ���� pppprrrreeeesssseeeennnncccceeee oooorrrr aaaabbbbsssseeeennnncccceeee ooooffff

uterusuterusuterusuterus

• Laboratory examination Laboratory examination Laboratory examination Laboratory examination – Chromosomal analysis or genetic evaluationChromosomal analysis or genetic evaluationChromosomal analysis or genetic evaluationChromosomal analysis or genetic evaluation– FISH and karyotypingFISH and karyotypingFISH and karyotypingFISH and karyotyping– Serum electrolyte Serum electrolyte Serum electrolyte Serum electrolyte ����CAHCAHCAHCAH– Serum 17 alfaSerum 17 alfaSerum 17 alfaSerum 17 alfa----hydroxyprogesteronehydroxyprogesteronehydroxyprogesteronehydroxyprogesterone– Urinary level of 17Urinary level of 17Urinary level of 17Urinary level of 17----ketosteroidketosteroidketosteroidketosteroid

INVESTIGATION

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• Imaging Imaging Imaging Imaging – Abdominal and pelvic ultrasoundAbdominal and pelvic ultrasoundAbdominal and pelvic ultrasoundAbdominal and pelvic ultrasound– GenitogramGenitogramGenitogramGenitogram– Laparotomies, laparoscopy or gonadal biopsyLaparotomies, laparoscopy or gonadal biopsyLaparotomies, laparoscopy or gonadal biopsyLaparotomies, laparoscopy or gonadal biopsy– Bone ageBone ageBone ageBone age

• General concept of clinical mangement of DSD:General concept of clinical mangement of DSD:General concept of clinical mangement of DSD:General concept of clinical mangement of DSD:– Avoid gender assignment in newbornAvoid gender assignment in newbornAvoid gender assignment in newbornAvoid gender assignment in newborn– Evaluation and long term management with Evaluation and long term management with Evaluation and long term management with Evaluation and long term management with multidisciplinary teammultidisciplinary teammultidisciplinary teammultidisciplinary team– Gender assigmentGender assigmentGender assigmentGender assigment– Communication with patient and familiesCommunication with patient and familiesCommunication with patient and familiesCommunication with patient and families– Respect with patient and family concernsRespect with patient and family concernsRespect with patient and family concernsRespect with patient and family concerns

MANAGEMENTMANAGEMENTMANAGEMENTMANAGEMENT

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– Respect with patient and family concernsRespect with patient and family concernsRespect with patient and family concernsRespect with patient and family concerns• Multidisciplinary approach Multidisciplinary approach Multidisciplinary approach Multidisciplinary approach ���� pediatric endocrinology, pediatric endocrinology, pediatric endocrinology, pediatric endocrinology, surgery, urology, pscychology/psychiatry, gynaecology, surgery, urology, pscychology/psychiatry, gynaecology, surgery, urology, pscychology/psychiatry, gynaecology, surgery, urology, pscychology/psychiatry, gynaecology, genetics, neonatology, social working, nursing and genetics, neonatology, social working, nursing and genetics, neonatology, social working, nursing and genetics, neonatology, social working, nursing and medical ethicsmedical ethicsmedical ethicsmedical ethics

• Management Management Management Management – Gender assignment and surgicalGender assignment and surgicalGender assignment and surgicalGender assignment and surgical– Hormone replacement and psychosocial therapy Hormone replacement and psychosocial therapy Hormone replacement and psychosocial therapy Hormone replacement and psychosocial therapy ����

not always indicated in DSDnot always indicated in DSDnot always indicated in DSDnot always indicated in DSD– Sex steroid therapy Sex steroid therapy Sex steroid therapy Sex steroid therapy ���� hypogonadismhypogonadismhypogonadismhypogonadism– Cortisol Cortisol Cortisol Cortisol ���� avoid adrenal crisisavoid adrenal crisisavoid adrenal crisisavoid adrenal crisis

• Factors that influence gender assignment :Factors that influence gender assignment :Factors that influence gender assignment :Factors that influence gender assignment :

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• Factors that influence gender assignment :Factors that influence gender assignment :Factors that influence gender assignment :Factors that influence gender assignment :– Diagnosis, surgical options, need for life long Diagnosis, surgical options, need for life long Diagnosis, surgical options, need for life long Diagnosis, surgical options, need for life long

replacement therapy, fertility, etcreplacement therapy, fertility, etcreplacement therapy, fertility, etcreplacement therapy, fertility, etc

• Surgery : vaginoplasty, testis removal, clitoroplastySurgery : vaginoplasty, testis removal, clitoroplastySurgery : vaginoplasty, testis removal, clitoroplastySurgery : vaginoplasty, testis removal, clitoroplasty���� decision involved familydecision involved familydecision involved familydecision involved family

• Etiologies of DSD many and complexEtiologies of DSD many and complexEtiologies of DSD many and complexEtiologies of DSD many and complex• Evaluation should be expeditiously and Evaluation should be expeditiously and Evaluation should be expeditiously and Evaluation should be expeditiously and

multidisciplinary approach multidisciplinary approach multidisciplinary approach multidisciplinary approach ���� involved involved involved involved endocrinologist, geneticist, radiologist, endocrinologist, geneticist, radiologist, endocrinologist, geneticist, radiologist, endocrinologist, geneticist, radiologist, urologist, pediatric surgeon and psychiatristurologist, pediatric surgeon and psychiatristurologist, pediatric surgeon and psychiatristurologist, pediatric surgeon and psychiatrist

CONCLUSIONCONCLUSIONCONCLUSIONCONCLUSION

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endocrinologist, geneticist, radiologist, endocrinologist, geneticist, radiologist, endocrinologist, geneticist, radiologist, endocrinologist, geneticist, radiologist, urologist, pediatric surgeon and psychiatristurologist, pediatric surgeon and psychiatristurologist, pediatric surgeon and psychiatristurologist, pediatric surgeon and psychiatrist

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