Reproductive dysfunction in women with Albright's hereditary osteodystrophy.

Most individuals with Albright's hereditary osteodystrophy (AHO) have deficient expression or function of G(s alpha), the alpha subunit of the guanine nucleotide binding protein that stimulates adenylyl cyclase, and are resistant to parathyroid hormone (PTH) and other hormones that act via stimulation of adenylyl cyclase. To determine the incidence and etiology of ovarian dysfunction in women with AHO, we examined the reproductive history and hypothalamic-pituitary-ovarian axis in 17 affected women aged 17-43 yr. All patients had typical PTH resistance and an approximately 50% reduction in erythrocyte G(s alpha) activity, (0.43 +/- 0.03 vs. 0.92 +/- 0.08 for normal control subjects, P < 0.001). Fourteen of the 17 patients (76%) were oligomenorrheic or amenorrheic, more than half had delayed or incomplete sexual development, and only two had a history of earlier pregnancy. Most women were mildly hypoestrogenic, with normal to slightly elevated serum gonadotropin levels. Computer analysis of 24 hour LH measurement showed that the frequency of LH peaks/24 h in AHO women varied widely, but as a group they were not statistically different from a group of normal women studied in the early follicular phase. Administration of 100 microg synthetic GnRH produced normal FSH and LH responses. We conclude that reproductive dysfunction is common in women with AHO and probably represents partial resistance to gonadotropins.

Timing of estrogen replacement therapy following hysterectomy with oophorectomy for endometriosis.

OBJECTIVE: To determine whether the immediate initiation of estrogen replacement therapy (ERT) in the postoperative period increases the incidence of symptom recurrence following total abdominal hysterectomy (TAH) with bilateral salpingo-oophorectomy (BSO) for the treatment of endometriosis. METHODS: In a retrospective cohort study, 95 women who underwent TAH with BSO for endometriosis at the Johns Hopkins Hospital during 1979-1991 and who subsequently received ERT were identified by computer search. Follow-up information was obtained from medical records, outpatient charts, and telephone surveys. Pain recurrence in patients who started ERT within 6 weeks after surgery and in those who delayed ERT for more than 6 weeks was compared and adjusted for length of patient follow-up and other covariates. RESULTS: Sixty women began ERT within the immediate postoperative period, and four (7%) of them had recurrent pain; 35 women began ERT more than 6 weeks after surgery, and seven (20%) of them had recurrent pain. The mean length of follow-up was 57 months. The difference in the crude rate of symptom recurrence following early and delayed initiation of ERT after TAH with BSO was not statistically significant (P = .09). Controlling for length of patient follow-up, no significant differences were observed between the two groups. Adjusting for covariates of stage, age, and postoperative adjunct medroxyprogesterone therapy, those who started ERT more than 6 weeks after surgery had a relative risk of 5.7 (95% confidence interval 1.3, 25.2) for pain recurrence. CONCLUSION: Although the number of patients in the study was too small to reach statistical significance in all analyses, these findings suggest that patients who begin ERT immediately after TAH with BSO are at no greater risk of recurrent pain than those who delay ERT for more than 6 weeks.

Ambiguous genitalia in an elderly woman with a mosaic 45,X/46,X,dic(Y)(Q11.2) karyotype.

A 66-year-old woman presented with clitoromegaly since childhood, primary amenorrhea, no breast development, and a large right inguinal hernia. A mosaic karyotype was identified containing a predominant 45,X cell line and a cell line with 46 chromosomes, one X chromosome, and a small dicentric Y chromosome with a breakpoint in band qII.2. The patient underwent hysterectomy, bilateral gonadectomy, inguinal hernia repair, clitoral recession, and formation of a neointroitus. A dysgerminoma was identified in the right dysgenetic gonad. This report demonstrates the natural history of untreated mixed gonadal dysgenesis and the importance of early evaluation and treatment, as well as the molecular characterization of a dicentric Y chromosome.

Incidence of symptom recurrence after hysterectomy for endometriosis.

OBJECTIVES: To determine the relative risk of symptom recurrence and/or reoperation after hysterectomy with ovarian preservation for the treatment of endometriosis. DESIGN: Historical prospective study of patients with endometriosis who underwent hysterectomy with or without ovarian preservation. PATIENTS: One hundred thirty-eight women who underwent hysterectomy with the diagnosis of endometriosis. METHODS: A computer search identified 138 women who underwent hysterectomy with the diagnosis of endometriosis at Johns Hopkins Hospital from 1979 to 1991. Follow-up information was obtained from medical records, outpatient charts, and telephone surveys. RESULTS: Twenty-nine women had hysterectomy with some ovarian tissue preserved; 109 had all ovarian tissue removed. Of those with ovarian preservation, 18 of 29 (62%) had recurrent pain and 9 of 29 (31%) required reoperation. Of those who had no ovarian preservation, 11 of 109 (10%) had recurrent symptoms and 4 of 109 (3.7%) required reoperation. Ovarian conservation was associated with a relative risk for pain recurrence of 6.1 (95% confidence interval [CI] 2.5 to 14.6) compared with patients with oophorectomy in a Cox proportional hazards model. The relative risk for reoperation in patients with ovarian conservation was 8.1 (95% CI 2.1 to 31.3). CONCLUSION: Compared with women who had oophorectomy for endometriosis, patients who underwent hysterectomy with ovarian conservation had 6.1 times greater risk of developing recurrent pain and 8.1 times greater risk of reoperation.

Ultrasonic surgical aspiration to treat genital condyloma acuminata in children.

We report on the technique of ultrasonic surgical aspiration for the treatment of genital condyloma acuminata in three prepubertal girls. All surgical procedures were done under general anesthesia, and no patient required hospitalization. Adequate samples for pathologic evaluation were obtained. This technique resulted in minimal discomfort, rapid healing, and no scarring.

Medical management of ectopic pregnancy.

In selected patients who are hemodynamically stable with an unruptured tubal pregnancy, systemic methotrexate has success rates comparable to laparoscopic salpingostomy. Larger randomized studies are necessary to adequately assess subsequent fertility. Local injection of methotrexate or other agents requires a sonographically visible ectopic as well as technical skills, and has less consistent success rates than that of systemic MTX therapy.

Accelerated maturation of the adrenal medulla in anencephaly.

A review of the pathologic features at autopsy of patients with anencephaly indicated the possibility of an accelerated maturation of the adrenal medullary tissue. The histologic features of the adrenal glands from 50 patients with anencephaly and 50 nonanencephalic infants matched for gestational age who had undergone autopsy at the Johns Hopkins Hospital were therefore examined. The cells of the adrenal medulla showed progressive maturation during fetal life from neuroblastic cells, to larger cells with increased cytoplasm, to still larger cells with vacuolated cytoplasm and a positive chromaffin reaction. Each anencephalic infant was compared to its matched control to determine which had the greater maturation of medullary cells. In 35 instances (70%) the adrenal medulla of the anencephalic infant was judged to be more mature than its control, in 13 (26%) the maturation was equal, and in 2 (4%) the anencephalic infant was less mature (p less than 0.001). Although the data were not subject to quantitation in this retrospective review, it appeared that the anencephalics also had greater amounts of medullary tissue than controls. The explanation for accelerated maturation of the adrenal medulla in anencephaly is not known. It is possible that the proximity of the definitive cortex to the medulla, resulting from atrophy of the fetal cortex, may accelerate medullary maturation by producing a different local corticosteroid milieu.

Gestational age-specific birthweights of twins versus singletons.

In order to more adequately characterize patterns of intrauterine growth retardation in twins, the mean birthweights of all nonanomalous white or black twins born between 24 and 41 weeks of gestation and surviving until discharge over an 11-year period (547 infants) and all similar singletons (19,072 infants) were compared by completed weeks of gestation. Between 24 and 35 weeks of gestation, the mean birthweights for the 547 twins and the 19,072 singletons were comparable and did not consistently differ statistically. From 36 to 41 weeks gestation, however, the difference became large, consistent, and statistically significant for each week at P less than 0.0001. This difference was present among all subgroups of twins, ie, in all males, females, blacks, and whites; it was still evident when the sample was further stratified by both race and sex (black males, white males, black females, white females). These data suggest a pattern of growth retardation in twins compared to singletons which is large, consistent, and statistically significant beginning at 36 weeks gestation. Clinically, these data also suggest the need for ultrasonic examination early in gestation (24-32 weeks) to document normal growth and to provide baseline data, and show the importance of such monitoring later in gestation, specifically after 36 weeks.