Table 5.

Recommended Evaluations Following Initial Diagnosis in Individuals with Nonsyndromic 46,XX Testicular Disorders/Differences of Sex Development

System/ConcernEvaluationComment
Constitutional Measurement of length/heightTo assess for short stature
Endocrinology Measurement of LH, FSH, & total testosterone levelsIn those age >10 yrs
Assessment of libido, energy, erectile function, acne, breast tenderness, & presence of gynecomastiaIn adolescents & adults
Baseline DXA scan in adolescents & adultsTo assess bone mineral density
Urology Physical exam for evidence of undervirilizationIncl assessment of length & width of phallus; location of urethral meatus; location of gonads through palpation & size measurement w/orchidometer
Digital rectal exam & measurement of PSA 1In adults, prior to initiating testosterone replacement therapy 1 (See Table 6.)
Psychology Assessment of mood & gender identityBy mental health professional
Genetic
counseling 		By genetics professionals 2To inform affected persons & their families re nature, MOI, & implications of nonsyndromic 46,XX testicular DSD to facilitate medical & personal decision making
Individual &
family support/
resources 		Assess need for:

DSD = disorders/differences of sex development; DXA = dual-energy x-ray absorptiometry; FSH = follicle-stimulating hormone; LH = luteinizing hormone; MOI = mode of inheritance; PSA = prostate-specific antigen

1.

Abnormalities in either of these may indicate the presence of prostate cancer; in this scenario, supplemental testosterone therapy may be contraindicated.

2.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: Nonsyndromic 46,XX Testicular Disorders/Differences of Sex Development

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