Chromosomal complements in primary gonadal failure

Twenty-nine patients underwent clinical, hormonal, endoscopic, and cytogenetic studies to determine the cause of primary amenorrhea or delayed sexual development. In 19 of them (mean age 17.6 years), the X chromosome was either missing or anomalous. In ten patients (mean age 25.5 years), the chromosomal complement was normal, 46 XX in six patients and 46 XY in four patients. Those with abnormal chromosomal complements were shorter (mean height, 141.9 cm) than patients with normal complements (158.7 cm). Somatic stigmas were observed more frequently in patients with chromosomally abnormal primary gonadal failure. In 23 patients (79.3%), the gonads were streaks, with fibrous stroma devoid of either follicles or tubules containing germ cells. In three patients the ovaries were hypoplastic, with few primordial follicles. Gonadoblastoma was present in two patients with XY and mixed XX/X/XY gonadal dysgenesis. In every patient with streak gonads and lack of germ cells, serum gonadotropin levels were elevated. Karyotype, follicle-stimulating hormone (FSH) and luteinizing hormone (LH) assays, and eventually laparoscopy and gonadal biopsy are important in the management of patients with primary gonadal failure.