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.

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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– 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.