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Ovarian Insufficiency in Congenital Lipoid Adrenal Hyperplasia Begins in Infancy

The aim of the present study was to investigate ovarian function in a 46,XX female patient with congenital lipoid adrenal hyperplasia (lipoid CAH) during infancy and childhood. We measured serum gonadotropin and estradiol levels regularly from 6 months to 10.9 years of age. Serum FSH levels were clearly elevated during the first 2 years of life; they decreased gradually until the age of 5 years and they then fell into the normal range for a prepubertal female. Serum LH levels were elevated until the age of 2 years and they then fell into the normal range. Serum estradiol levels were always in the normal prepubertal range. Pelvic ultrasonography performed at the age of 9 months and at 9.8 years of age showed normal uterine and ovarian morphology for a prepubertal female. In conclusion, our data suggest that ovarian insufficiency in lipoid CAH begins in infancy.