The clinical and endocrine evaluation of a pubertal boy with incomplete male pseudohermaphroditism type 1

Serum LH, FSH, prolactin, oestradiol, testosterone, 5 alpha-dihydrotestosterone, androstenedione, androsterone, progesterone, 17-hydroxyprogesterone and cortisol concentrations were measured in a pubertal boy suffering from gynaecomastia. At birth he had hypospadias, a scrotal anomaly, an abnormally small penis and unilateral cryptorchidism. At puberty, a small ejaculate volume with normal sperm concentration was recorded. Under basal conditions the serum concentrations of testosterone, oestradiol, 5 alpha-dihydrotestosterone, 17-hydroxyprogesterone and androsterone were clearly above normal, and they were not suppressed by dexamethasone as was the serum cortisol, which also showed normal diurnal variation. This suggested that the overproduction of sex steroids was of testicular origin. The serum LH was also elevated under basal conditions, while the serum FSH was in the reference range. The serum LH was not suppressed by ethinyl oestradiol administration, as the serum FSH was. The clinical observations and endocrine data are interpreted as indicating a partial failure in androgen action, responsible for the genital abnormalities observed and the deficiency in the hypothalamo-pituitary regulation of gonadotropin secretion, and are indicative of the findings described in connection with an unusual form of incomplete male pseudohermaphroditism type 1.