True hermaphrodite with bilateral ovotestes, bilateral gonadoblastomas and dysgerminomas, 46, XX/46, XY karyotype, and a successful pregnancy

Article Abstract:

True hermaphrodites have gonads that have differentiated abnormally and contain structures characteristic of both testes and ovaries. They are distinct from pseudohermaphrodites, who are individuals whose gonads are clearly one sex or the other, but whose other characteristics may be ambiguous. The authors report an unusual case of a true hermaphrodite, with both gonads containing characteristics of both sexes, that is, bilateral ovotestes. The case is remarkable for developing bilateral gonadoblastoma after conceiving and delivering, by caesarian section, a healthy male child. The patient was born in 1956 with ambiguous external genitalia. Imperfectly formed labia were present, as was a phallus with a urethral opening. Examination revealed the presence of a uterus and cervix, and the infant was therefore treated as a female and surgery partially modified the ambiguous genitalia. The patient gave birth to a normal boy at the age of 29; no abdominal or pelvic abnormalities were noted at that time. However, a year later a rapidly growing mass on the left side necessitated hysterectomy and bilateral salpingectomy, or removal of the uterine tubes, and a left gonadectomy. The patient remains free of disease after three years and her child continues to be healthy. A cytogenetic investigation of the patient's lymphocytes at the age of 31 revealed a 46 XX karyotype, the normal human female chromosome complement. However, cells cultured from a skin biopsy revealed that 42 percent of the cells were the female 46 XX and 58 percent of the cells had the male 46 XY karyotype. The case prompted a return to the pathological archives to examine the patient's right ovotestes, which had been removed for diagnostic purposes in the second year of life. Although the pathological report had indicated a normal ovary, it was possible to identify not only testicular structures, but also nests of gonadoblastoma cells. Near one gonadoblastoma nest, an invasive dysgerminoma could be observed. The case supports the suspicion that, despite the appearance of gonadoblastoma in adults, the tumor actually begins early in life, perhaps even in the fetus. Furthermore, the case illustrates that even true hermaphrodites with a 46 XX/46 XY karyotype may be fertile and successfully bear children. (Consumer Summary produced by Reliance Medical Information, Inc.)

Case studies, Sex differentiation disorders, Ovarian tumors, Hermaphroditism

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Red cell aplasia in myelodysplastic syndrome

Article Abstract:

Red cell aplasia (RCA) occurs when the bone marrow stops making red blood cells. It is believed that cells of the immune system (the body's natural defense system for fighting infection) somehow prevent the bone marrow from making red blood cells. RCA is a rare disorder that can be very serious if it is not resolved. It can be inherited or it can occur in patients with benign tumors of the thymus gland (a gland located in the neck that makes cells that fight infection), viral infections, connective tissue disorders and cancer. Also, it can occur in patients with myelodysplastic syndrome (MDS, abnormal development of the bone marrow). The cases of six patients with MDS and RCA are reported. Four of the patients were women, and the average age was 77 years. Four of the seven patients died, of whom three had more immature blood cells, called blasts, than any of the other patients. Two of the seven patients survived, but both required periodic blood transfusions. One of these patients was treated successfully with prednisolone and did not require further transfusions. Another study reported four cases of MDS and RCA in which all of the patients had a good prognosis. Three of the patients were treated with prednisolone and two of these patients showed signs of improvement. Autoimmune disorders (whereby the immune system attacks and destroys the body's own tissues) are common in patients with MDS and may be responsible for the destruction of red blood cells seen in these patients. Patients who have RCA without excess production of blast cells may have a more favorable outcome, and treatment with drugs that suppress the immune system should be considered. (Consumer Summary produced by Reliance Medical Information, Inc.)

Cases, Erythrocytes, Red blood cells, Myelodysplastic syndromes, Pure red cell aplasia

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