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Ambiguous Genitalia Research Paper

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TERMINOLOGY
CLINICAL CLARIFICATION 6
• Ambiguous genitalia (also called disorders of sex development or DSD) is a diverse catalog of congenital anomalies that encompasses genotype and phenotype irregularities, endocrine abnormalities and enzymatic dysfunctions in the organs that express human sexual identification. These include male and female pseudohermaphroditism, gonadal dysgenesis, and true hermaphroditism.
CLASSIFICATION 4
• Formal taxonomy of disorders of sex development (note that some conditions overlap categories, and are multi-factorial in origin): o Disorders of 46 chromosomes, XX sex chromosomes
- Testicular disorders inducing androgenization, female to male sex reversal
- Gonadal dysgenesis 46, XX (auto recessive) with follicle …show more content…

- Skin: Discoloration or darkening skin is the pathognomonic sign of congenital adrenal hyperplasia 1
• Physical examination o Conventional signs of ambiguous genitalia:
- The common finding is morphologic variance from normal male or female genital anatomy
- Head and neck features may be dysmorphic (e.g., webbed neck of Turner syndrome)

- Breast tissue may be conspicuously absent in the adolescent Female (e.g., Gonadal dysgenesis)
- Genitourinary: multiple congenital anomalies in 32.1% 1 o Error in assignment of gender: 47.2% of Females, and 7.1% of males with ambiguous genitalia are wrongly assigned as opposite sex.1
- Normal male newborn ,, o Normal uncircumcised phallus, without chordee, >2.5cm length o Urethral meatus at glans apex o Scrotal sac full ruggae bilaterally o Testicles in inguino-scrotal canal or intrabdominal that descend with lower abdominal compression o Ano-genital raphe present
- Normal female newborn o Normal vaginal vault, perineal location without narrowing o urethra anterior wall o prepuce and clitoris male o Genetics
- In a series of 81 children with ambiguous genitalia, 53 (65.4%) patients were genetically Females {46XX), with congenital adrenal hyperplasia being the common cause in 51 (96.5%) patients , o Other risk …show more content…

TREATMENT CiOALS
• Induce inhibition of endocrine hormonal excess and androgenization, stabilize and correct hormonal and

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