Biomedical subjects
Publications and source records attributed to S Minowada.
14-year-old Japanese girl with a 46,XX karyotype underwent an exploratory laparotomy for signs of virilization. The left ovary and other pelvic organs were of female type. The right gonad was found to be an ovotestis which was removed. At age of 25, the patient gave birth to a normal male infant by full-term, vaginal delivery. In the literature, this is the third case of normal delivery in 7 true hermaphrodites with pregnancy and childbirth.
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Responses of serum testosterone levels to repeated daily injections of 5000 IU hCG for 4 days were studied in 24 patients with Klinefelter's syndrome. Eighteen patients were untreated, and 8 had been given previous treatment with depot testosterone 100 mg intramuscularly every 2-3 weeks for an average duration of 4.7 years. Among them, 4 patients were examined both before and after the therapy. The hCG test was performed at least 2 weeks (0.5-12 months) after the last injection of depot testosterone in the treated patients. Mean basal testosterone level of the treated patients, 139 +/- 98 ng/dl (Mean +/- SD), was not significantly different from that of the untreated patients, 172 +/- 110 ng/dl. Maximum stimulated testosterone level in the treated patients, 170 +/- 107 ng/dl (P less than 0.05). These results suggest that long-term androgen administration may decrease the functional reserve of Leydig cells in patients with Klinefelter's syndrome.
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Recently, attentions are being aroused as to the enzymatic network abnormalities lying behind congenital enzyme deficiency syndromes. We investigated abnormalities in activities of various hydrolytic enzymes in serum of patients with congenital adrenal hyperplasia (CAH, 21-hydroxylase deficiency). Several enzyme activities including trypsin-like enzyme, cathepsin C and esterase were significantly decreased in patients' serum. Especially the esterase activity in patients' serum was reduced to one third of controls and this may have some relations to the abnormal steroid metabolism of these patients. A multivariate analysis showed unexpectedly extensive abnormalities in enzyme interrelationships. These results suggest that wide variety of abnormal metabolism may be related to an apparent enzyme deficiency.
We documented a new case of chi 46,XX/46,XY true hermaphroditism substantiated by the evaluation of chromosomal heteromorphism in banded preparations. The patient, a 12-year-old Japanese boy with ambiguous external genitalia, was seen because of abnormal breast development. Surgical exploration showed the right gonad to be an ovotestis and the left gonad to be an ovary. Cytogenetic studies revealed cell admixtures of 46,XX and 46,XY karyotypes in peripheral lymphocytes, skin fibroblasts, and gonadal fibroblasts. From the pedigree studies, the paternal double genetic contributions were evidenced by the differences of sex chromosomes and the blood group types for the ABO and MNSs systems in the two cell lines of the patient. The maternal double genetic contributions were confirmed by the inheritance of Q-fluorescent markers on chromosomes 13 and 22 and by alleles for the Kidd blood group system.
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Reproductive function was studied in 31 adult male patients with Behçet's disease during treatment with cyclophosphamide and/or colchicine for 1 to 64 months. Semen was obtained from 27 patients. Azoospermia or severe oligospermia was found in 13 of 17 patients receiving cyclophosphamide with or without colchicine, whereas the sperm count was almost normal in six patients treated with colchicine alone and in four patients receiving neither drug (control patients). Blood samples were available for 31 patients. The mean follicle-stimulating hormone level among 12 cyclophosphamide-treated patients was significantly higher than that of 6 colchicine-treated patients and 6 control patients. These results indicate that cyclophosphamide impairs spermatogenesis in adult men, whereas colchicine does not.
Two cases of localized urethral amyloidosis are reported. Data pertaining to 13 cases including our two cases are reviewed. The difficulty in preoperative differentiation of an amyloid tumor from a urethral malignancy is stressed. It is advisable to perform open or transurethral biopsy of the urethral tumor before deciding on radical surgery.
We have studied plasma renin activity, the plasma aldosterone level and urinary metabolites of glucocorticoid precursors before and during a dexamethasone suppression test in three non-salt-losers with congenital adrenal hyperplasia due to 21-hydroxylase deficiency, who had never been treated with glucocorticoid. Plasma renin activity, the plasma aldosterone level and urinary pregnanetriol excretion were found to be abnormally elevated before dexamethasone administration. After 7 days' dexamethasone administration, plasma renin activity still remained high above the normal level, while the plasma aldosterone level as well as urinary 17KS and pregnanetriol excretion were lowered to the normal ranges. Several possible mechanisms for this discordant suppression of plasma renin activity and aldosterone level were discussed and the presence of mineralocorticoid resistance, which is not related to ACTH dependent aldosterone antagonists, was suggested in the case of these patients.
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Two brothers with XX male syndrome with penoscrotal hypospadias are reported. Chromosomal analysis of cells from the peripheral blood, skin, and testes revealed a normal female karyotype in both subjects. Biopsy of both testes in the brothers showed histological features of normal immature testes and no evidence of ovarian structures. Neither vagina, uterus nor fallopian tubes could be detected either by exploratory laparotomy or retrograde urethrography. Results of endocrine studies on serum gonadotropins (LH and FSH) and testosterone levels as well as their responses to LH-RH and hCG stimulation tests were normal for age. Studies of various genetic markers, including the Xg blood type and erythrocyte enzymes, were performed in the probands and their parents. Possible explanations for the paradoxical occurrence of testes in XX males and for the familial occurrence are discussed.
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