Müllerian duct agenesis and other congenital anomalies.

The Rokitansky anomalad, although a rare disorder, ranks second as a cause of primary amenorrhea in adolescents. This patient presented with a congenital absence of the vagina and uterus and other associated minor abnormalities. She had primary amenorrhea and asynchronic pubertal development. The syndrome appears to be related to a defect in the paramesonephric ducts with frequent involvement of adjacent structures. This report reviews the syndrome and emphasizes the importance of the chronological sequence of events during female sexual development.

Massive edema of the ovary and virilization.

Endocrine studies of a virilized adolescent patient with massive ovarian edema are reported. The histologic features of the affected ovary consisted of diffuse edematous stroma with scattered islands of lutein-like cells and no evidence of recent ovulation. Plasma concentrations of progesterone and 17-hydroxyprogesterone (17-OHP) in the peripheral and left ovarian veins and their ovarian-peripheral vein gradients were above the range observed during normal follicular phase. The considerable increase in the ovarian vein concentrations of both steroids observed after adrenocorticotropic hormone administration was noteworthy as a direct effect of this hormone on the ovarian synthesis of steroids has not previously been observed. Peripheral vein levels of testosterone (T) were increased. The secretion of T by the ovary was demonstrated by its elevated levels in the ovarian vein and in the ovarian-peripheral vein gradient. Unexpectedly, the levels of androstenedione in the ovarian vein were normal, suggesting an alteration in the ovarian biosynthetic pathway for the production of T. Similar findings have been observed in hirsute women with hyperthecosis ovarii. After surgery, the peripheral vein levels of 17-OHP and T returned to normal, pointing toward the ovary as their source of excess. The data indicate that stromal luteinization of the massive ovarian edema may lead to changes in normal ovarian steroidogenesis that would be responsible for the clinical manifestations of this disorder.

Pituitary-adrenal function in pseudopregnant rats.

Pseudopregnancy inhibited plasma corticosterone response to stress. The production of corticosterone by adrenal slices in vitro was also discussed; no changes in adrenal 5 alpha-reductase activity were observed. Secretion of corticosterone in the adrenal venous blood was decreased as well, without changes in dehydrocorticosterone or tetrahydrocorticosterone secretion rates. Treatment with ACTH increased the secretion rates of corticosterone to the range observed in control rats. Steady state secretion and metabolism of corticosterone was unchanged. The data indicate that the diminished responses in plasma concentrations, in vitro production, and secretion rates of corticosterone obtained in pseudopregnant rats after stress, are secondary to changes on the release of ACTH from the pituitary gland rather than to adrenal steroid secretion per se or handling of corticosterone by the liver. The expected rise in plasma prolactin observed in cycling rats after stress was absent in pseudopregnant rats. The data suggest that an inhibition of the prolactin release mechanisms similar to that observed with the release of ACTH may have occurred after stress. The dynamics involved in the changes affecting the release of pituitary hormones in pseudopregnant rats are still unclear.

X-linked hypogonadism, gynecomastia, mental retardation, short stature, and obesity--a new syndrome.

Five male members in four generations of the same family had hypogonadism, gynecomastia, mental retardation, obesity, and short stature. The X-linked mode of inheritance, the distinctive facies, the normal size of the hands and feet, and the true gynecomastia are the main characteristics. Endocrine evaluation and histologic studies of the testes suggest partial hypogonadotropic hypogonadism. This disorder represents a new syndrome distinct from others previously described.