Richard H. Heller

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.

The Turner Phenotype in the male

The clinical, pathologic, and cytogenetic data of 5 phenotypic males who exhibited some of the stigmas of Turners syndrome are reported. These findings and those complied from the previously reported cases indicate a wide diversity of gonadal development, ranging from normal to totally absent tests. In comparison to the female variety of the syndrome males show a relatively increased incidence of mental retardation, ocular deformities, and cardiac malformations. One of the five patients presented has been shown to have a chromosomal abnormality of one of the autosomes of the 6–12 group.

Vulvovaginitis in the premenarcheal child.

Fifty premenarcheal children with vulvovaginitis and 21 control subjects underwent a series of diagnostic studies, including vaginal smear; bacterial, fungal, and viral cultures of the vagina, rectum, and urine; vaginal cytology; and urinalysis. Employing these tools and a careful history and physical examination, it was possible to elicit a probable specific cause in the majority of the patients.

Apparent pseudopuberty in a phenotypic female with a gonadal tumor and an autosome/Y chromosome translocation

Abstract A 15-year-old phenotypic female with a Y/autosome translocation is reported. This patient had a 45,X,-16,+t(16 Yp-)/46,XYq-,-16,+t(16 Yp-) chromosome complement in a lymphocyte culture. Her left gonad showed dysgerminoma and a Sertoli-cell tumor. The right gonad showed gonadoblastoma in a streak and a poorly developed ovary. It was concluded that the pubertal events in this patient came from the estrogens secreted from a Sertoli-cell tumor rather than the function of poorly developed ovary.

Pathologic diagnosis of Duchenne muscular dystrophy in an aborted fetus.

In a fetus at risk for Duchenne muscular dystrophy and aborted at 21 weeks, an increase in variability in muscle fiber diameter was found in comparison to two control fetuses.

Changes in alpha-fetoprotein levels in a case with multiple congenital anomalies

A chromosomally normal women, who previously lost an infant with meningomyelocele and hydrocephalus, with a chromosomally normal husband, had normal alpha fetoprotein (AFP) levels in both amniotic fluid and maternal serum at about 19 weeks gestation. At 34 weeks, suspected hydramnios was confirmed clinically and radiographically; the latter showed no evidence of hydrocephalus. AFP levels at 36 weeks showed 224 ng/ml in maternal serum and 1249 ng/ml in amniotic fluid. Maternal serum rose from the 25th-19th percentile, and amniotic level was 5-fold greater than normal (200 ng/ml). At 39 weeks, abnormal AFP values of 258 and 1500 ng/ml for maternal serum and amniotic fluid, respectively, were measured. Though AFP patterns did not suggest an open neural tube defect (higher 19-week values were expected), spontaneous labor at 39 weeks resulted in a 1930-gm female with multiple congenital abnormalities. These AFP assays suggest: 1) that signaling of abnormalites other than neural tube defects is a valid use of AFP assays; 2) that the slope rather than single point values should be used in interpreting AFP results; 3) that assays in both amniotic fluid and maternal serum should be obtained and interpreted simultaneously in screening for birth defects; and 4) that sequential assays should be performed even in the presence of initially normal findings.