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Ambiguous genitalia
Sukanya MD.
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Definition
Normal sex differentiation.
Catagorie of abnormal differrentiation.
Clinical approach in ambiguous
Disorder of sexal differientiation.
Definition
• A medical definition of intersexuality is
• "conditions in which chromosomal sex is inconsistent
with phenotypic sex, or in which the phenotype is not
classifiable as either male or female".
• Intersexuality : the state of a person
– sex chromosomes,
– genitalia
– secondary sex characteristics are determined to be neither
exclusively male nor female
Normal sex differentiation.
• Controlled by;
– Genetic .
– Hormone.
• Stage of differentiated
– Embryologic phase
– Puberty phase.
• Organ< virilization>.
– woffian VS mullerian.
– External genitalia
– Internal urogenital organ.
Normal sex differentiation.
• Genetic
– Chromosomal sex; XX vs XY controlled by:
• Testicular- determinining called :SRY
Sex-determining region of the Y
for development of testis
• Genital duct structure: testis
– Leydig cell produce:testosterone
» For maintain Ipsilateral woffian structure
– Testis produce:Mullerian-inhibiting factor
» To cause regress Ipsilateral Mullerian structure
External genitalia.
Internal urogenital system.
Sex development disorder.
• Look at;
– Chromosome disorder.
– Gonad.
– External genitalia.
– Internal urogenital organ.
– Breast development.
– Clinical feature.
Sex development disorder.
• 1. Disorder of gonadal differentiation.
• 2.Vitilized 46 XX females.
– Congenital adrenal hyperplasia.
– Maternal derived androgen and synthetic progesterone.
• 3.undervitilized 46XY males.
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Testis unresponsiveness to hCG and LH.
Testis biosynthesis defect.
Peripheral unresponse to androgen
Defects in synthesis secreation or response to MIF.
Maternal estrogen or progesterone ingestion.
• 4. Unclassified.
• 2.Vitilized 46 XX females.
– Congenital adrenal hyperplasia.
• 21.-hydroxylase deficiency.
• 11-beta-hydroxylase deficiency.
• 3-beta-hydroxylase deficiency.
– Maternal derived androgen and synthetic progesterone
3.undervitilized 46XY males.
- Testis unresponsiveness to hCG and LH.
• Leydig cell hypoplasia or agenesis.
– Testis biosynthesis defect.
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Congenital lipoid adrenal hyperplasia.
3-beta-hydroxysteriod dehydrogenase deficiency.
17-alpha-hydroxylase deficiency.
17,20-lyase;desmolase;deficiency.
17-beta-hydroxysteroid dehydrogenase deficiency.
– Peripheral unresponse to androgen.
• Androgen insensitivity syndromes: receptor defect.
• 5-alpha-reductase deficiency.
- Defects in synthesis secreation or response to MIF.
– Maternal estrogen or progesterone ingestion
3.undervitilized 46XY males.
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4. Unclassified
• Cryotorchidisim
• Hypospadias
• Developmental anamalies.
Clinical approach in ambiguous.
• Hx: maternal Hx of illness;drug ingestion;alcohol;hormone:FH
• PE:
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Are gonad present? Normal size? Consistency?position?
Phalic lengh<2.5 SD,,:width of penis.
Position of urethral meatus.
Degree of fusion of labiocrotrum fold.
Is there apperance of vaginal orifice?
• STRUCTURAL STUDY.
• Karyotyping:FISH analysis of SRY- gene.
Clinical approach in ambiguous.
Congenital adrenal hyperplasia with 21hydroxylase deficiency
• Most common cause of sexal ambiguous is:
– Congenital adrenal hyperplasia with 21-hydroxylase deficiency
KEY:
History of:
Infant has no palpable gonad and has fused labiolabial fold and
prominent phallus. Ultrasound uterus + tube with possible
ovaries.
Karyotype XX.
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Complete androgen insensitivity
• Rarely present ambiguous in infant or childhood.
• Undescented testis are palpable in labia majora:
– Phenotype normal female
• Until puberty
– Breastdevelop by : high level testosterone aromatized to estrogen.
– No pubic&axillry hair and no menstrual cycle.
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– Produce MIF lack mullerian duct +/- Woffian duct.
Gender identity: Female
Karyotyping:46,XY
Consult: primary amenorhea at mid to late teenage
Treatment:
– Gonadodectomy::::intra abdominal testis :early.
– Estrogen therapynormal pubertal progression
– Upper section of vagina and plastic surgery.
5-alpha-reductase deficiency.
- Impaired conversion testosteroneDHT.
- Incomplete vitilization and differentiated of external genitalia.
- Autosomal recessive.
- Clinical: sexal ambiguity:
- karyotyping:46XY
- range from simple hypospadiablind vaginal pouch:clittoris-like
phallus.
- In puberty
- Boy undergo to vitilization.
- Normal girlfertilization.