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Developmental Sexual Disorder
(intersex)
By
Asmaa kadhim
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Summary of terminology for disorders of sex
development (DSD)
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46XY developmental Sexual Disoreder
• Gonadal dysgenesis
- no testosterone
- no mullerian inhibitory factor
• Androgen insensitivity
Complete
Partial
Presence of mullerian inhibitory factor
• 5 alpha reductase deficiency
Failure of conversion of testosterone to dihydrotestosteron
Virilization at puberty
Presence of mullerian inhibitory factor
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Presentation
• Delayed puberty in case of gonadal dysgenesis
• Primary amenorrhea
• Well developed female secondary sexual characters
• Absence of pubic and axillary hair in case of CAI
• Primary infertility
• Inguinal hernia ( containing gonads)
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Investigations
• Karyotype study
• Imaging as US , MRI , CT for presence or absence of genital organs
• Hormonal essay
FSH , LH
Testosterone
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Management
• Socially determined
• Induction of puberty
• Sex diversion and HRT
• Gonadectomy to avoid risk of cancer
• In presence of mullerian system pregnancy is possible by oocyte donation
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46XX developmental Sexual Disoreder
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Ovotesticular Sexual Disorder
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Sexual disorder with abnormal karyotype
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Turner syndrome
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Diagnosis
•Prenatal
• Ultrasound
• Amniocentesis
• Chorionic villous sampling
•Postnatal
• Signs and symptoms
• Karyotype ( XO or Mosiacism XX,XO)
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Thank you