ambiguous genitalia sukanya md.. out line definition normal sex differentiation. catagorie of...
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Ambiguous genitalia
Sukanya MD.
Out line
• 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
• 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 :SRYSex-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
Normal sex differentiation.
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.– 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.• 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:– 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 21-hydroxylase 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.
.
Complete androgen insensitivity• Rarely present ambiguous in infant or childhood.• Undescented testis are palpable in labia majora:
– Phenotype normal female
• Until puberty– Breastdevelop by : high level testosterone aromatized to estrogen. – No pubic&axillry hair and no menstrual cycle.– 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 therapynormal pubertal progression– Upper section of vagina and plastic surgery.
5-alpha-reductase deficiency.
- Impaired conversion testosteroneDHT.- Incomplete vitilization and differentiated of external genitalia.- Autosomal recessive.- Clinical: sexal ambiguity: - karyotyping:46XY- range from simple hypospadiablind vaginal pouch:clittoris-like
phallus.- In puberty
- Boy undergo to vitilization.
- Normal girlfertilization.