Abstract
ABSTRACT Endocrine and metabolic studies were performed in a 16-yr-old phenotypic girl with primary amenorrhea and gonadal agenesis. Sex chromatin determination and karyotype in peripheral blood leukocytes and bone marrow cells revealed a 46 XY chromosome complement. High plasma basal levels of radioimmunoassayable (RIA) pituitary gonadotropins which had a pulsatile pattern and normal pituitary responsiveness to synthetic LH-releasing hormone were demonstrated. Undetectable levels of plasma RIA testosterone and lack of response after human chorionic gonadotropin (hCG) stimulation were observed. Plasma levels of RIA pregnenolone, dehydroepiandrosterone, progesterone, 17α-OH-progesterone, androstenedione, testosterone, cortisol and estradiol were determined in: basal conditions, ACTH stimulation, dexamethasone inhibition (DI), and combined DI and hCG stimulation. The results indicated normal adrenal function and absence of gonadal function. A normal anabolic response after testosterone propionate administra...
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