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Disorders of Sexual Differentiation
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==== History and Physical exam ==== *'''History''' **'''Family history of''' **#'''Infant death within the family might suggest the possibility of CAH''' **#Infertility, amenorrhea, or hirsutism might also suggest possible familial patterns of intersex states **'''Maternal use of medications, in particular steroids or contraceptives, during the pregnancy''' *'''Physical exam''' **'''The critical component is the presence of one or two palpable gonads. This finding effectively rules out over-masculinization [i.e. CAH] of the female.''' *** Because ovaries do not descend, a distinctly palpable gonad along the pathway of descent is highly suggestive of a testis. *** '''The patient with bilateral impalpable testes or a unilateral impalpable testis and hypospadias should be regarded as having a DSD until proven otherwise, whether or not the genitalia appear ambiguous''' ****Incidence of DSD with *****Unilateral undescended testis: 30% ******Unilateral undescened palpable: 15% ******Unilateral undescened impalpable: 50% *******Unilateral undescened impalpable with posterior urethral meatus: 65% ******* Unilateral undescened impalpable with anterior urethral meatus: 5-8% *****Bilateral undescended testes and hypospadias: 32% ******Bilateral undescended palpable: 16% ******Bilateral undescended impalpable: 50% **'''Penile size should be assessed and an accurate measure of stretched penile length recorded.''' ***Recall, the mean stretched penile length in full-term males born in the United States is 3.5 cm **'''Presence of a uterus can be assessed by physical exam but a more precise means of assessing müllerian anatomy is by pelvic US''', which may be performed immediately in the neonatal period. ***'''In addition to defining müllerian anatomy and confirming the presence or absence of a uterus, the gonads and adrenals should be studied.'''
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