Clinical,pathologic, and genetic findings in a case of 46,XY pure gonadal dysgenesis (Swyer's syndrome): II. Presence of H-Y antigen

Evidence that expression of histocompatibility-Y (H-Y) antigen on human cells is determined by a Y-linked gene is provided by data demonstrating that male subjects with two Y chromosomes have higher antigen levels than male subjects with one Y chromosome. The widespread evolutionary conservation of H-Y antigen and its association with the Y chromosome suggest that the antigen has a specific, crucial function. We surmise that this function is the differentiation of the embryonic gonad into whichever mature gonad, testis or ovary, typifies the heterogametic sex of each species. Of particular interest are individuals whose gonadal sex does not correspond to their somatic genotype. In the present article, we report positive results in the first case of 46,XY pure gonadal dysgenesis (Swyer's syndrome) to be typed for H-Y antigen. This case suggests that the presence of H-Y antigen may not be sufficient to complete masculinization of the embryonic mammalian gonad. Alternatively, a mutant gene may govern expression of a cell surface component which cross reacts with H-Y antigen but which lacks the ability to function in the virilization of the gonad.     

Clinical,pathologic, and genetic findings in a case of 46, XY pure gonadal dysgenesis (Swyer's syndrome): I. Dysgerminoma and gonadoblastoma

Cytogenetic, pathologic, and clinical studies were conducted on a phenotypically female patient with primary amenorrhea and infertility. Analysis of blood cultures with routine and Giemsa-banded preparations indicated that the chromosomal complement of the patient was 46,XY. Buccal and peripheral blood smears prepared for fluorescent analyses confirmed the presence of a single F-body (Y chromosome). Pathologic examination of tissues removed at total hysterectomy and bilateral salpingo-oophorectomy revealed a gonadoblastoma of the right gonad, dysgerminoma of the left gonad, and an infantile hypoplastic uterus. The data were consistent with a diagnosis of 46,XY pure gonadal dysgenesis (Swyer's syndrome).     

Histochemical demonstration of lysosomal hydrolase activity in endometrial mononuclear cells. II. Abnormal endometrium.

The mononuclear cells in the endometrial stoma change in reactivity for lysosomal hydrolases during the menstrual cycle. Lymphoid follicles may occur in the stroma in any phase of the cycle and have been found in gestational endometrium. However, these cells have no significant lysosomal activity. Alterations in the endometrium are reflected in modified patterns of activity. Endometritis, association with an intrauterine contraceptive device, pregnancy, and adenocarcinoma result in increased numbers and staining intensity of mononuclear cells. In contrast, no consistent changes were apparent in foci of glandular hyperplasia, and decreased staining was seen in atrophic areas of endometrium. These data suggest that interstitial mononuclear cells are a sensitive monitor of morphologic changes in the endometrium.     

Histochemical demonstration of lysosomal hydrolase activity in endometrial mononuclear cells. I. Normal endometrium.

Interstitial cell reactivity for lysosomal hydrolases was demonstrated in 67 endometrial specimens with histochemical techniques. Cyclic changes in the number of reactive cells corresponded to the stage of the menstrual cycle. Techniques for galactosidase and glucuronidase showed increasing numbers of reactive cells through the late secretory stage. Staining for glucosaminidase and nonspecific esterase also increased in late secretory endometrium. In contrast, acid phophatase activity was biphasic, and that of leucine aminopeptidase remained relatively constant. Only minimal interstitial staining was seen in prepubertal and postmenopausal specimens.     

Clinical significance of fetal heart rate patterns during labor: IV. Agonal patterns

The characteristics of fetal heart rate (FHR) patterns were reviewed in 11 cases where the infants died either intrapartum or within eight hours of birth as a consequence of distress during labor without prior recovery. The neonatal charts and the autopsy reports were also reviewed. The infants were grouped according to gestational age as premature (four), term (four), and postmature (three). Similarities and differences were studied in an attempt to delineate some common underlying factors. The premature fetuses have an extraordinary capacity to withstand clinical signs of severe distress (late deceleration and fixed and tachycardic base line) for many hours until the very moment of death and rarely pass meconium. The term fetuses can withstand less prolonged periods of severe distress, the fixed FHR base line and impressive decelerations preceding immediate death; they consistently passed meconium, three of four had aspirated meconium. All of the postterm fetuses had massive meconium aspiration, but the FHR patterns had a bizarre appearance; several hours before death some late decelerations were followed by tachycardia and fixed base lines but no decelerations. Subsequent occurrence of erratic severe decelerations immediately preceded sudden death. Possible reasons for these different pathophysiologic responses are discussed. In the study of FHR tracings, a variable of utmost importance is chronologic age of gestation. Its value cannot be overemphasized for an accurate interpretation of the fetal condition and good decisions for management.     

A simplified surgical technique for the treatment of the vault in vaginal hysterectomy.

The surgical steps in the various techniques to remove the uterus by vaginal hysterectomy are quite uniform; however, the handling of the vaginal cuff differs with each and all techniques reviewed. The technique here described is a simplified method that secures hemostasis, establishes drainage of the anterior vaginal wall, and creates a vaginal canal adequate for sexual function. Emphasis is placed on the inclination of the vagina, a step that brings the vaginal axis almost perpendicular to the body axis, obviating the constant bearing-down effect on the intra-abdominal pressure on the apex of the vagina. Prevention of subsequent enterocele formation is achieved by the occlusion of the weak spot between the ulterosacral ligaments, the site of the hernial sac formation.     

Integrity of central dopaminergic system in women with postpartum hyperprolactinemia

In order to elucidate the role of elevated prolactin (PRL) on the central dopaminergic systems, the suppressive effects of PRL were studied after the administration of l-dopa and l-dopa plus carbidopa on consecutive days to the following three groups: 10 normoprolactinemic subjects, six nonnursing normal puerperal women, and seven hyperprolactinemic women without any evidence of pituitary tumor. In the normoprolactinemic subjects (basal PRL 13 ± 2 ng/ml mean ± SE), the suppressive effects of l-dopa alone and l-dopa plus carbidopa were similar (48% ± 4% and 58% ± 6%, respectively). In puerperal hyperprolactinemic subjects, the basal PRL (116.8 ± 16.4 ng/ml) was suppressed 77% ± 2% after administration of l-dopa and 51% ± 7% after l-dopa plus carbidopa, significantly different from that of l-dopa alone (p < 0.005), but similar to that observed in normal subjects. In the patients with idiopathic hyperprolactinemia, the baseline PRL (131 ± 38 ng/ml) decreased 56.3% after the administration of l-dopa. In the presence of peripheral dopa decarboxylase inhibition, the administration of l-dopa decreased plasma PRL values 30%, a drop significantly different from that of l-dopa alone (p < 0.02). Women with idiopathic hyperprolactinemia exhibit reduced central dopaminergic inhibition of PRL secretion similar to that in patients with pituitary tumor; whereas the response to central dopaminergic inhibition in postpartum women with comparable baseline PRL levels is similar to that in normoprolactinemic subjects. This indicates that hyperprolactinemia per se is not associated with a state of reduced central dopaminergic inhibition. The increased pituitary sensitivity to l-dopa observed in puerperal women may be due to alterations in PRL receptors or vascularity.     

Salivary and plasma bound and "free" testosterone in men and women

Paired samples of blood and saliva from 37 men and nine women throughout the menstrual cycle were measured for testosterone by radioimmunoassay and free testosterone by equilibrium dialysis. There was a highly significant correlation between plasma and salivary testosterone, with a correlation coefficient r = 0.71 (p = less than 0.001). In men, free testosterone constituted 78% of salivary testosterone but only 4% of plasma testosterone; mean +/- SE salivary testosterone was 193.7 +/- 6.7 pg/ml compared to plasma testosterone of 5,140 +/- 298.0 pg/ml. Salivary testosterone decreased significantly from a morning (0800 hours) level of 208 +/- 7.5 to an evening (1800 hours) level of 174 +/- 8.4 pg/ml (p = less than 0.001) (n = 23). Similarly, plasma testosterone was significantly higher in the morning (6,584 +/- 472 pg/ml) than in the evening (5,571 +/- 357 pg/ml) (p = less than 0.005) (n = 25). Free testosterone in saliva and plasma also showed significantly higher morning than evening levels. The coefficients of variability for hourly changes (0900 to 1800 hours) in salivary testosterone and free testosterone were 13.6% and 16.7% compared to 12.7% and 20.9% for plasma testosterone and free testosterone, respectively. In women, salivary testosterone during the proliferative phase of the menstrual cycle was 108.3 +/- 5.8 pg/ml, and it increased significantly to 130.5 +/- 6.0 pg/ml in the secretory phase (p = less than 0.02). Our findings indicate that measurements of salivary testosterone reflect plasma testosterone and may be a useful noninvasive method of assessing levels of testosterone.     

Peritoneal fluid prostaglandins and prostanoids in women with endometriosis, chronic pelvic inflammatory disease, and pelvic pain

Peritoneal fluid obtained at laparoscopy from 49 women was measured for its content of prostaglandin E2 (PGE2), prostaglandin F2 alpha (PGF2 alpha), 6-keto-prostaglandin F1 alpha (6-KF), and thromboxane B2 (TxB2) by specific radioimmunoassays. In normal women (n = 10), the concentrations of prostaglandins in peritoneal fluid were (mean +/- SE): PGE2 = 0.79 +/- 0.26, PGF2 alpha = 0.60 +/- 0.18, 6-KF = 0.48 +/- 0.19, and TxB2 = 0.23 +/- 0.09 ng/ml; in women with endometriosis (n = 16): PGE2 = 1.43 +/- 0.72, PGF2 alpha = 1.52 +/- 0.59, 6-KF = 3.32 +/- 0.71, and TxB2 = 1.14 +/- 0.69 ng/ml; in women with chronic pelvic inflammatory disease and/or obstructed tubes (n = 19): PGE2 = 1.94 +/- 1.04, PGF2 alpha = 1.20 +/- 0.61, 6-KF = 1.55 +/- 0.40, and TxB2 = 0.64 +/- 0.24 ng/ml; in women with pelvic pain without any visible pathologic condition (n = 4): PGE2 = 1.11 +/- 0.66, PGF2 alpha = 0.73 +/- 0.55, 6-KF = 1.35 +/- 0.35, and TxB2 = 0.39 +/- 0.17. The mean volumes of peritoneal fluid recovered were 10 to 16 ml and were not significantly different between the groups. Except for a significantly elevated concentration of 6-KF in the peritoneal fluid of women with endometriosis compared to normal women (p = less than 0.02), the prostaglandins measured did not differ significantly between the groups of women studied. The possible significance of elevated 6-KF in the peritoneal fluid of women with endometriosis is discussed.     

Clinical aspects of acute pelvic inflammatory disease: Cook County Hospital

We reviewed Cook County Hospital records of 134 consecutive patients hospitalized for acute pelvic inflammatory disease unrelated to intrauterine devices, delivery, or pelvic surgery. Nearly half our patients had peritonitis or a pelvic mass and most were young or nulliparous. Neisseria gonorrhoeae was recovered from the endocervices of 41 (34%) of 120 patients and was more common among younger patients. Most patients responded to antibiotic therapy; consequently, we recommend antibiotic treatment for acute PID unless surgical emergencies cannot be excluded or patients do not improve with antibiotic therapy alone.     

Nutritional evaluation of gynecologic cancer patients during initial diagnosis of their disease

Ninety-seven gynecologic cancer patients received a thorough nutritional assessment during the initial evaluation of their disease. Patients with Stages III and IV ovarian cancer were shown to have severe protein-calorie malnutrition (p < 0.01) unrelated to any gastrointestinal obstruction or laparotomies. Patients with other types of gynecologic cancers at all stages demonstrated nearly normal nutritional assessment parameters, with the exception of recent weight loss. Nutritional assessment and active nutritional intervention therapy are suggested especially for patients with advanced ovarian cancer.     

Sister chromatid exchanges after exposure to ultrasound and mitomycin C

A pilot study was designed to determine whether a synergistic ability to produce sister chromatid exchanges exists between ultrasound and mitomycin C, an alkylating agent known to induce sister chromatid exchanges. Bromodeoxyuridine-containing cells from human lymphocyte cultures were randomized into one of four exposures: (1) unexposed controls, (2) 20 minutes of pulsed ultrasound (3.5 MHZ), (3) mitomycin C alone, or (4) mitomycin C and 20 minutes of pulsed ultrasound. The mean sister chromatid exchange frequencies were 6.7 control cells, 7.5 cells exposed only to ultrasound, 8.1 cells treated with both ultrasound and mitomycin C, and 10.4 cells treated with mitomycin C alone. Neither χ² tests for differences in the four distributions nor analysis of variance for interaction between ultrasound and mitomycin C was significant. Our results suggest that individuals receiving alkylating agents are not likely to be highly susceptible to any deleterious effects of ultrasound. However, these results remain tentative pending repetition of studies and development of more appropriate in vitro exposure systems.     

Chorionic gonadotropin receptors and immunoreactive chorionic gonadotropin in implantation of the rabbit blastocyst

To determine the temporal relationship between immunoreactive chorionic gonadotropin, chorionic gonadotropin receptors, and implantation of the rabbit blastocyst, (1) immunoreactive chorionic gonadotropin in plasma, uterine flushings and blastocysts; (2) chorionic gonadotropin receptors on blastocysts (day 5 and 6) and embryonic and interembryonic segments of the uterus (day 7); and (3) chorionic gonadotropin receptors on the endometrium and myometrium (day 1 through 6) were measured. Binding of I125-labeled beta-subunit of human chorionic gonadotropin (hCG) by cell membranes from blastocysts increased significantly from 6.0 +/- 1.1 fmol/mg of protein (mean +/- SE) on day 5 (N = 6) to 16.1 +/- 1.3 fmol/mg of protein on day 6 (n = 6) (P less than 0.001). Immunoreactive chorionic gonadotropin levels in blastocyst fluid increased from 0.3 ng/ml of day 5 to 0.65 ng/ml on day 6. Specific binding of I125-labeled hCG was absent in endometrial and myometrial cell membranes before implantation (days 1 to 6) but was found in decidual cells from embryonic segments on day 7. Plasma immunoreactive chorionic gonadotropin or chorionic gonadotropin--like material increased from 6 ng/ml of day 1 to 52 ng/ml on day 7. Uterine flushings had chorionic gonadotropin levels of 0.4 ng/ml of day 2, which increased slowly to 1.0 ng/ml on day 7. Intrauterine instillation of hCG into nonpregnant uterine horns demonstrated transuterine absorption of hCG with plasma hCG levels showing a dose-related response. Our findings demonstrate that (1) immunoreactive chorionic gonadotropin or chorionic gonadotropin--like material is detectable in plasma, uterine flushings, and blastocyst fluid before implantation, (2) chorionic gonadotropin receptors are present on the blastocyst cells before implantation, and (3) the uterus can absorb chorionic gonadotropin from its lumen.     

Fetal heart rate monitoring in premature infants weighing 1,500 grams or less

Continuous monitoring tracings of fetal heart rate in 61 infants with birth weights of 1,500 grams or less were analyzed and related to newborn outcome. Reassuring heart rate patterns or good baseline variability correlated well with a normal unbilical artery pH. Fetal heart rate patterns and baseline variability were not related in a predictive way to central nervous system hemorrhage, respiratory distress syndrome, or neonatal death. Early intervention and operative delivery in cases demonstrating abnormal fetal heart rate patterns may have influenced the outcome in these infants. Fetal heart rate patterns can play an important role in the intrapartum assessment of the condition of the very-low-birth-weight infant and may be used to select those infants requiring prompt operative intervention and vigorous neonatal resuscitation.     

Self-monitoring of blood pressure during pregnancy

Instruction in self-determination of blood pressure offers a means for managing a pregnant woman who has chronic hypertension. This approach offers patient participation and reinforces compliance to bed rest. If further identifies the anxiety and emotions involved in a visit to the physician's office, since the blood pressure readings are significantly lower when taken by the patient elsewhere. Furthermore, it offers an effective tool to monitor the effect of antihypertensive drugs on blood pressure in a more accurate manner.     

Vaginitis in sexually active women: relationship to nine sexually transmitted organisms

Women seen for symptoms suggestive of vulvovaginitis were studied for the detection of Mycoplasma hominis. Ureaplasma urealyticum, yeast, Neisseria gonorrhoeae, Chlamydia trachomatis, Gardnerella vaginalis, herpes simplex virus, group B beta-hemolytic streptococci, aerobes, anaerobes, and Trichomonas vaginalis. Asymptomatic women who reported to be sexually active and agreed to undergo comprehensive genital cultures were used as controls. There was a significant association of vulvovaginitis with the recovery of sexually transmitted organisms. However, all organisms were also recovered from asymptomatic patients. A total of 468 sexually transmitted organisms were recovered from 253 symptomatic patients (1.85 organisms per patient), while 125 were recovered from 130 asymptomatic patients (0.96 organisms per patient). The difference in prevalence between symptomatic and asymptomatic women for Chlamydia trachomatis, group B streptococcus, and the mycoplasmas was not statistically significant. Factors that predispose patients to the manifestations of symptoms are not clearly understood.     

Apgar scores and umbilical arterial pH in preterm newborn infants

One- and five-minute Apgar scores and umbilical cord arterial pH values were compared in preterm newborn infants of various gestational ages. The more premature the infant, the more likely the Apgar score was low in the presence of a pH greater than or equal to 7.25. Conversely, the closer to term, the more frequently an infant with a pH of less than 7.25 had an Apgar score of greater than or equal to 7. Therefore, in preterm infants, there is little congruity between the Apgar score and umbilical cord pH. Based on these findings, it is not appropriate to label preterm newborn infants as asphyxiated based on a low Apgar score.