Clinical_Rounds_in_Endocrinology_Volume_II_-_Pediatric_Endocrinology

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34. What is the utility of hCG stimulation test in patients with DSD?

hCG stimulation test aids in the differential diagnosis in patients with 46,XY

DSD suspected to have androgen biosynthetic defects, 5α-reductase type 2

defi ciency, and androgen resistance syndrome. hCG is administered intramus-

cularly for 3 days at a dose of 500–1,500 IU/day, based on the age of the patient,

and serum testosterone, androstenedione, and dihydrotestosterone are estimated

at baseline and 24h after the last dose of hCG. The interpretation of the results

of hCG stimulation test is summarized in the table given below. In addition,

a

c

b

d

Fig. 9.12 ( a ) A 2-year-old child with ( b , c ) bifi d scrotum and palpable testes in the labioscrotal
fold and ( d ) perineoscrotal hypospadias with chordee. The karyotype of the child was 46,XY and
a diagnosis of androgen biosynthetic defect (17β-HSD 3 defi ciency) was established

9 Disorders of Sex Development