Search

OBJECTIVES: The purpose of our study was to discover whether the testicular determining factor gene SAY (sex-determining region on Y) is present or absent in XX true hermaphrodites and in subjects with gonadal dysgenesis caused by Y aneuploidy. STUDY DESIGN: We screened five XX true hermaphrodites and 24 subjects with gonadal dysgenesis caused by Y aneuploidy for the presence or absence of SAY. With the polymerase chain reaction technique, the sequence coding the 80 amino acid-conserved motif was amplified. The 0.9 kb Hin cll pY53.3 subclone, which covers the open reading frame of SAY, serves as a probe for Southern blot analysis. RESULTS: Test results for all five XX true hermaphrodites were negative for SAY. Conversely, 22 of the 24 individuals with 45,X/46,XY gonadal dysgenesis were positive for SAY, including the 10 subjects with only bilateral streak gonads. CONCLUSIONS: The absence of SAY in XX true hermaphrodites and the presence of SAY in 10 subjects with 45,X/46,XY constitution who harbored only bilateral streak gonads seem to indicate that multiple genes are involved in gonadal differentiation. (AM J OBSTET GYNECOL 1992;167: 1794-802.)

Deoxyribonucleic acid samples from a series of 13 subjects with 45,X/46,X,altered Y, and varying gonadal phenotypes (streak-streak, n = 9; streak-testis, n = 2; testis-testis, n = 2) were analyzed for the presence of the candidate testicular determinant factor sequence zinc finger Y. The Y-specific probes Y97 mapped to Y centromere, pDP105 A,B mapped to Yp and distal Yq11, respectively, hybridized with the deoxyribonucleic acid from all the 13 study subjects. The same deoxyribonucleic acid samples were analyzed for the presence of the zinc finger Y sequence. Eleven of the 13 subjects were positive for the zinc finger Y sequence. Four zinc finger Y-positive subjects had unilateral (n = 2) or bilateral (n = 2) testicular differentiation. Among the nine subjects with bilateral streak gonads, seven showed the presence of this sequence. The lack of testicular differentiation in the presence of quantitatively normal or almost normal zinc finger Y bands could not be explained by mosaicism alone. Mutations not detectable by analysis with the method of Southern with pDP1007, may occur in the testicular determinant factor gene vitiating testicular development.

Because of concern over the higher rates of failed abortion, many clinicians defer surgical abortion until 7 menstrual weeks or later. We conducted this study to evaluate the efficacy and safety of early surgical abortions that are performed by numerous physicians in a community-based setting.We prospectively gathered data on all eligible patients who had surgical abortions at6 weeks of gestation at 3 Planned Parenthood clinics from January 1, 1998, to August 31, 2000. Outcomes were evaluated with the use of proportions with 95% CI and chi(2) analysis.A total of 1132 women had early surgical abortions during the study interval, and follow-up was available for 750 of those women (66%). Seventeen women (2.3%; 95% CI, 1.4%, 3.7%) had failed attempted abortions. Other complications occurred in 13 women.Early surgical abortion is safe and effective. In this series, the frequency of complications that required curettage was similar to that reported with mifepristone and vaginal misoprostol.

The Y alphoid deoxyribonucleic acid probe Y97 has proved to be specific for the human Y centromere and to define a Y-specific 5.5 kb Eco RI fragment. Three experiments were designed to evaluate the sensitivity and the specificity of this Y alphoid probe Y97. In the first experiment the centromeric Y-specific 5.5 kb Eco RI fragment was clearly seen in the mixture of 0.050 microgram of male DNA with 4.950 micrograms of female DNA (1%). In the second experiment the same dilutional study was applied to the Yq11-related probe 4B-2 for comparison purpose. In the third experiment, hybridization with the Y97 probe was performed on 20 subjects with mosaic cell lines containing a cytogenetically identifiable Y (n = 10) and a cytogenetically unidentifiable minute (n = 10) fragment. Nineteen of the 20 subjects demonstrated the Y-specific 5.5 kb Eco RI hybridization band with the centromeric Y97 probe. These experiments demonstrated the utility of the Y97 probe to consistently identify cytogenetically altered Y chromosome fragments and confirm the mapping of the alphoid repeat sequences to the centromeric region of the Y chromosome.

Thirty-one patients with anatomical verification of the diagnosis of gonadal dysgenesis have been assessed as to possible correlations between clinical, cytogenetic, and histologic findings. No significant differences in histopathology were detected. Characteristically, histologic sections exhibited fibrous stroma and. mesonephric remnants with sporadic occurrence of Leydig or hilar cells. On the other hand, clinical and cytogenetic findings were quite variable. The clinical spectrum included patients of short, normal, and tall stature, some with and some without associated somatic anomalies. Among the 31 patients, cytogenetic studies revealed eleven different sex chromosome patterns including normal XX complements. There appeared to be some correlation between the amount of genetic privation and the incidence of somatic anomalies. Analysis of all data has led to the conclusion that most cases of gonadal dysgenesis may be diagnosed on the basis of clinical and cytogenetic findings alone. However, of special interest are a smaU minority of patients who require gonadal visualization for definitive diagnosis and accurate prognosis.

Four experiments evaluated the sensitivity and specificity of molecular techniques to detect human Y chromosome deoxyribonucleic acid. In experiment I, electrophoretic separation of normal male deoxyribonucleic acid fragments after digestion with endonuclease Hae III revealed two male-specific bands of 3.4 and 2.1 kilobase (kb). These bands were not visible if the fraction of male deoxyribonucleic acid in mixed samples was less than 0.3. In experiment II, by means of a repetitive copy Y deoxyribonucleic acid probe (pS4) mapped to Yq12, a male-specific 2.3 kb band was detectable in mixtures of 2.5 ng of male deoxyribonucleic acid and 997.5 ng of 45,X female deoxyribonucleic acid. In experiment III, hybridization with the pS4 probe was performed on the deoxyribonucleic acid of 20 subjects with a normal or a variant Y chromosome. In experiment IV, deoxyribonucleic acid from the same subjects was hybridized to a single copy probe (4B-2) mapped to the Yq11 region. Deoxyribonucleic acid from category A subjects (n = 8) with cytologically normal Y chromosomes hybridized to both deoxyribonucleic acid probes. Deoxyribonucleic acid from category B subjects (n = 2), including a variant Y chromosome that was negative for Q-banding but positive for C-bands, hybridized with the distal pS4 and proximal 4B-2 probes. Deoxyribonucleic acid from category C subjects (n = 10) with variant Y chromosomes uniformly negative for Q- and C-bands, did not hybridize with the pS4 probe. Deoxyribonucleic acid from three of the 10 category C subjects did hybridize to the more proximal sequence-detecting 4B-2 probe. Deoxyribonucleic acid from the remaining seven subjects in category C did not hybridize with either of the deoxyribonucleic acid probes.

A series of 252 patients with abnormalities of pubertal development are reported. Ovarian failure, followed by Rokitansky syndrome and then physiologic delay, are the most frequently encountered etiologies. Other etiologies are diverse and numerically less frequent. The average age of presentation, patient's height, somatic anomalies, diagnostic errors, and subsequent reproductive potential of each diagnostic group are reported. Only 35 (14%) of all patients presenting with abnormalities of pubertal development had subsequent normal reproductive potential. All of these patients were in the physiologic delay category.