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
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. 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. 21.-hydroxylase deficiency. 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.