Maria D. Urban

Adult Height and Fertility in Men with Congenital Virilizing Adrenal Hyperplasia

The effects of congenital adrenal hyperplasia on adult height and fertility were studied in 30 afflicted men. The patients heights ranged from 150.0 to 178.6 cm (mean +/- 1 S.D. of 164.0 +/- 7.6), which is significantly lower than both the mean adult height for American men and that of the patients parents (P less than 0.005). There was no correlation between adult height and the age at which therapy was begun, possibly because the patients treated before one year of age had the salt-losing form of the syndrome. Therapeutic compliance may also have been involved. Apparently normal fertility, indicated by paternity and normal sperm counts, was found in 18 out of 20 patients evaluated. This group included five untreated patients who were found to be fertile and to have normal plasma testosterone and gonadotropin but elevated androstenedione levels.

Oxandrolone therapy in patients with Turnersyndrome

Long-term, low-dosage androgen treatment of patients with Turner syndrome results in more rapid growth and significantly greater adult height than in control patients who receive only estrogen for pubertal development. Seventeen patients treated with oxandrolone for one year and ten treated for two years had significantly greater growth velocities during than before treatment. Mean adult height of 25 patients treated with oxandrolone, fluoxymesterone, or both was significantly taller than the height of adult patients with Turner syndrome treated with estrogen only. Excessive skeletal maturation was not generally observed.

Familial syndrome of mental retardation, short stature, contractures of the hands, and genital anomalies.

Two teen-age XY brothers with mental retardation, short stature, obesity, genital abnormalities, and contractures of their hands are described. They have generalized osteoporosis and a history of frequent fractures. Their endocrinologic evaluation was normal except for mild glucose intolerance and delayed, but normal puberty. Although these brothers are similar to individuals with Prader-Willi syndrome, their unusual hand contractures, clinically significant osteoporosis, and lack of hypotonia indicate that they represent a different entity.

Pubertal Secretory Patterns of Gonadotropins in Hypergonadotropic Patients (Turner Syndrome)

Serum gonadotropins in 5 females with Turner syndrome have been evaluated using a 24-hour constant withdrawal pump. A sleep-related increase in gonadotropin levels was documented among patients at an early to midpubertal age but not among older individuals, a phenomenon observed among normal individuals.

Treatment of Cushing’s Disease with Bilateral Adrenalectomy and Autotransplantation

2 Cases of childhood Cushings disease have been treated with bilateral adrenalectomy and autotransplantation of adrenal tissue. Transplantation was unsuccessful in 1 case. In the other patient, replacement therapy was discontinued without any symptoms of hypo- or hyperadrenocorticism. Her urinary 17-hydroxycorticosteroids, free cortisol and aldosterone remain in the low normal range indicating functional adrenal tissue, probably a result of the transplant.

343 ENDOMETRIAL CARCINOMA AND HYPERPLASIA IN PATIENTS WITH GONADAL DYSGENESIS RECEIVING ESTROGEN-PROGESTERONE THERAPY

Fifty-one patients with gonadal dysgenesis receiving estrogen-progesterone replacement therapy for periods of six months to twenty years were studied. Endometrial biopsies or dilatation and curettage were obtained in forty-seven patients. One patient on diethylstilbesterol had atypical endometrial hyperplasia which progressed to adenoepidermoid carcinoma. Six patients had benign cystic hyperplasia. Endometrial abnormalities occurred in patients with a duration of estrogen therapy greater than 3-5/12 years and who received a total lifetime estrogen dose exceeding 2500 mg of conjugated estrogen or its equivalent. Five patients who developed endometrial hyperplasia had taken cyclic estrogen-progesterone therapy; the sixth took unopposed estrogen therapy.Total nuclear estradiol binding was measured in six patients with Turner Syndrome and nine control women. Two of the Turner patients had endometrial hyperplasia. Nuclear binding in these two subjects did not differ from that of the other patients with Turner Syndrome. Nuclear binding in the Turner patients (range 3-101/DPM ng DNA) was not different from that of nine control women at comparable stages of the menstrual cycle (34-429 DPM/ng DNA). Cytoplasmic binding of estradiol was not different in two patients with Turner Syndrome with hyperplasia from the four without.