Howard W. Jones

The age of occurrence of gonadal tumors in intersex patients with a Y chromosome

A total of 320 intersex patients with a Y chromosome were classified into four groups; (1) gonadal dysgenesis, (2) asymmetrical gonadal differentiation, (3) virilizing male hermaphroditism and (4) feminizing male hermaphroditism (testicular feminization syndrome). Of these 320 cases, 98 were from the files of The Johns Hopkins Hospital and the remainder from the literature. The incidence of tumors in relation to age and clinical classification was analyzed by computer. The results were plotted for each group. It was found that the percentage of tumors rose appreciably soon after the age of puberty in the first three groups, and it was concluded that the gonads were best removed before the age of puberty. In the case of testicular feminization patients, procrastination until the age of 25 could be considered, if one were willing to assume the risk of neoplasia of about 3.6 per cent until then.

Glucocorticoid treatment of girls with congenital adrenal hyperplasia: Effects on height, sexual maturation, and fertility

Ninety-eight females with congenital adrenal hyperplasia due to a defect in either the 21-hydroxylase or the 11 beta-hydroxylase enzyme were evaluated to determine the effects of glucocorticoid treatment on growth, pubertal development, and fertility. When treatment was begun prior to one year of age, mean final height was 157.4 +/- 7.3 com, well within the normal adult female range, and significantly (p less than 0.001) greater than the mean final height of 150.9 +/- 4.3 cm found in untreated patients. The mean age of menarche in patients treated prior to the age of six years was 13.8 +/- 3.7 years which is significantly (p less than 0.01) delayed compared to that in the normal population of the United States. However, 92% of patients with menstrual delay had inadequate suppression of adrenal androgens and urinary excretion of 17 ketosteroids larger than 7.0 mg/24hours. The increased production of adrenal androgens was the result of poor compliance or an insufficient prescribed dose of glucocorticoids. The fertility rate in patients first treated between six and 20 years of age was 64%. The excretion of urinary 17 KS at the time of pregnancy was 2.5 to 5.3 mg/24 hours. All of the patients who delivered term infants required delivery by cesarean section because of cephalopelvic disproportion. The major problems encountered in the management of adolescent patients were patient noncompliance and physician failure to increase the glucocorticoid dose as the patients body size increased.

The pathology and cytogenetics of gonadal agenesis

THE clinical picture of sexual infantilism, short stature, webbing of the neck and streak gonads is now quite well known under the eponym of Turner’s syndrome. The discovery that such patients were chromatin negative and had but 45 chromosomes due to the loss of one of the sex chromosomes seemed to crystallize the picture of this disease. By and large patients so characterized are of only remote interest to the gynecologist as they are usually diagnosed and treated in infancy or adolescence by the pediatrician. It has recently become apparent, however, that the clinical picture associated with gonadal streaks is quite variable and of much more immediate concern to the gynecologist. As we shall describe, attractive women of normal stature, who complain of primary amenorrhea may, likewise, have gonadal streaks associated with negative or even positive sex chromatin patterns.

Preliminary attempts to fertilize human oocytes matured in vitro

Abstract Attempts were made to fertilize human oocytes after their maturation in culture. Initial attempts using washed spermatozoa showed that the great majority of eggs were unfertilized and that the spermatozoa failed to traverse the zona pellucida, probably because of lack of capacitation. Therefore, attempts were made to capacitate human spermatozoa by placing them in the reproductive tract of a rabbit, culturing them with pieces of human endosalpinx, taking them from cervical mucus, or transferring them with oocytes into the Fallopian tubes of estrous rabbits or hormonally primed monkeys. The incidence of fertilization remained very low after these treatment. Very few of the transferred human eggs were recovered from the monkeys.

Salvage of the reproductive potential of women with anomalous development of the Müllerian ducts: 1868-1968-2068.

This discussion will be confined to four major problems associated with Mullerian anomalies: absence of the vagina (1) without or (2) with uterine development and (3) incomplete fusion of the Mullerian ducts with obstruction to one side and (4) incomplete fusion without obstruction. The discussion will review these disorders as they were known in 1868 and their contemporary management and submit our projection for 2068.

Infertility due to endometriosis: Conservative surgical therapy

Abstract One hundred and one patients with endometriosis were treated with conservative operation because of infertility. Fifty-two patients followed at least one year subsequently conceived. Fifty-eight per cent of the 73 patients followed for 3 or more years achieved a pregnancy. A total of 87 conceptions occurred. The age of the patient at the time of operation, the duration of preoperative infertility, the patients previous parity, and the location of the disease did not appear to be significant factors in the results. Sixty per cent of the patients who conceived did so in the first year following operation. All but one of the patients who conceived did so within 3 years of the operation. Thirteen women required subsequent operation for symptomatic endometriosis; however, 5 of them had conceived.

Computer analysis of etiology and pregnancy rate in 636 cases of primary infertility

Since the rate of pregnancy is a function of time, conventional pregnancy rates (number of patients achieving pregnancy per number of patients treated) are inadequate for counseling unless the follow-up period is specified. To overcome this problem, the expectancy of pregnancy for 636 cases of primary infertility was calculated with the assumption that the patients were followed up indefinitely. The overall conventional pregnancy rate was 38%, whereas the overall expectancy of pregnancy was 64%. Endometriosis was found to be the most common factor, comprising 25% of the cases, with a pregnancy rate of 31% and an expectancy of 52%. The expectancy of future pregnancy in a patient who has not achieved pregnancy by a given time is presented for each etiologic factor. This paper also presents a comparison of expectancies of pregnancy by different treatments, which may be helpful in selecting appropriate therapy.

Glucose-6-phosphate dehydrogenase and the histogenesis of epidermoid carcinoma of the cervix

Abstract The result of vertical starch gel electrophoresis of blood, cancerous, and noncancerous epithelium of the cervix of 18 patients who were heterozygous for G-6-PD variants is presented. Among 10 patients without cancer of the cervix, examination of the cervical epithelium showed 9 with 2 bands and one with 1 band. Among 8 patients with cancer, examination of the cancer tissue showed 5 with a single band (1A and 4B) and 3 with double bands. It is proposed that the evidence is consistent with the concept that epidermoid carcinoma of the cervix arises from a single cell. It is also concluded that the Lyon phenomenon is also functioning in at least some tumors.

Cytogenetic findings in patients with congenital absence of the vagina

Abstract We were unable to find any reports in the literature on cytogenetic findings in patients with congenital absence of the vagina. The cytogenetic findings in the above 12 cases were within normal limits for females. All our patients were phenotypic females with 44 autosomes and 2 X sex chromosomes.

Chromosomes of atypical (adenomatous) hyperplasia and carcinoma of the endometrium

Abstract The chromosomes of atypical hyperplasia of the endometrium and carcinoma of the endometrium were studied by a direct flame-dry method without resorting to tissue culture techniques. Although the majority of the cells from an atypical hyperplasia and an adenoacanthoma of the endometrium had a normal diploid chromosome number of 46, a significant proportion of the cells showed an abnormal chromosome number of more than 46. Anaplastic adenocarcinoma of the endometrium showed both numerical and structural aberrations of chromosomes in all of the cells analyzed. An adenosquamous carcinoma of the endometrium had more than half of the cells with hyperdiploid chromosomes. A correlation between the histologic grading of malignancy and the degree of chromosme aberrations seems to exist in carcinoma of the endometrium.