Differentials
Differences of sex development (DSD)
SIGNS / SYMPTOMS
Endocrine and urology referral should be made to rule out a DSD.
INVESTIGATIONS
Karyotype and 17-hydroxyprogesterone level help distinguish between the different disorders.
Human chorionic gonadotropin (hCG) stimulation test: no increase in testosterone, along with elevated basal levels of gonadotropins, signifies that the testes are absent.
A phenotypic 46 XY male with bilateral nonpalpable testes has anorchia if inhibin and Mullerian inhibiting substance (MIS) levels are undetectable and follicle-stimulating hormone is elevated, making neither the hCG stimulation test nor surgical exploration necessary.[59][60]
Female with congenital adrenal hyperplasia
SIGNS / SYMPTOMS
Occasionally, a severely androgenized female with 21-hydroxylase (the most common) congenital adrenal hyperplasia may present with a phallic structure and presumed bilateral undescended testicles, and may have life-threatening metabolic disturbances.
INVESTIGATIONS
Elevated serum 17-hydroxyprogesterone and serum testosterone.
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