USEFULNESS OF LH. FSH, AND TESTOSTERONE DETERMINATIONS AT 2 TO 10 WEEKS OF AGE (THE WINDOW PERIOD) IN MALE PSEUDOHERMAPHRODITISM

Abstract

To assess whether LH, FSH, and testosterone (T) values are helpful in the differential diagnosis of male pseudohermaphroditism, we evaluated 22 patients in the window period (2-10 weeks of age) and compared results with those obtained by karyotype, genitogram, and hCG stimulation. While 3 patients with panhypopituitarism had low LH (X = 3 mIU/ml) and low T (X = 11 ng/dl), one had a high FSH (52 mIU/ml). Two patients with Prader willi had normal gonadotrophins and high T (509, 610 ng/dl). Two patients with mixed gonadal dysgenesis (XO/XY) and 3 patients with XY gonadal dysgenesis with mullerian remnants had normal to high-normal LH (X = 19 mIU/ml) and low-normal T (X = 158 ± 32 ng/dl); FSH was high-normal to high (X = 15 mIU/ml). Values in a patient with “vanishing tastes” were FSH 212 mIU/ml, LH 167 mIU/ml, and T <30 ng/dl. A patient with Leydig cell hypoplasia had low T (22 ng/dl), normal FSH (2.9 mIU/ml), but low LH (3 mIU/ml). Two patients with high gonadotrophins and normal testosterone and dihydrotestosterone are awaiting tests of androgen receptor function. In 6 patients who were judged idiopathic, no helpful gonadotrophin pattern was found. Two patients are still being evaluated. In conclusion, we found window period LH, FSH, and testosterone values useful and generally consistent with results obtained by other diagnostic tests.