title: Abnormalities of sexual differentiation: evaluation and management.
abstract: Normal male and female sexual differentiation begins with gametogenesis. Both male and female sexual differentiation follow a timetable of events with predictable development of the gonads, internal genital ducts, and the external genitalia. Completed sexual maturation occurs during the pubertal years. Abnormalities of sexual differentiation may occur at any step along the way. The abnormalities may result in abnormal differentiation of the gonads, the internal genital ducts, or the external genitalia. The end result of these abnormalities produces predictable clinical syndromes. While many of these defects of sexual differentiation are evident at birth, others will not be identified until puberty at which time the patient may manifest aberrant external maturation or may remain sexually infantile. Genital ambiguity in a newborn represents a true medical emergency. Early and expedient diagnosis is essential to avoid life-threatening crises, to determine sex-of-rearing, to provide for appropriate immediate and long-term treatment, and to assure that the family is provided adequate genetic counseling. Medical and surgical treatment should begin during the birth hospitalization and the child should leave the hospital with his or her external genitalia concordant with sex-of-rearing. Finally, the emotional well-being of the family unit requires appropriate education and ongoing counseling.
authors.affiliation: Tufts University School of Medicine, Department of Ob/Gyn, Boston, MA 02111.
authors.forename: R H
authors.initials: RH
authors.lastname: Reindollar
authors.forename: S P
authors.initials: SP
authors.lastname: Tho
authors.forename: P G
authors.initials: PG
authors.lastname: McDonough
mesh_terms: D003376:Counseling; D012734:Disorders of Sex Development / Q000145:classification / Q000175:diagnosis / Q000209:etiology / Q000601:surgery; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D012732:Sex Determination Analysis