Testicular lipids in mice with testicular feminization

Morphological, histochemical and biochemical studies of the testis of mice with testicular feminization (tfm/y) reveal a large accumulation of lipids in Leydig cells and in Sertoli cells. In Leydig cells of tfm/y mice, lipid droplets do not exhibit the special relationship with smooth endoplasmic reticulum that exists in normal adult Leydig cells. Compared to the surgically-cryptorchid control, the tfm/y testis contains more lipid in Leydig cells but less in Sertoli cells. There are also quantitative differences in testicular lipids in tmf/y and normal testes but no significant differences were noted between tfm/y and surgically-cryptorchid testes. The testes of both the genetically defective and surgically-cryptochid animals contain increased amounts of total lipids and phospholipids, and of free and esterified cholesterols. Exogenous testosterone has no effect on lipids or other characteristics of these cells. The present results suggest that the increased lipids in tfm/y mice result from a genetic disorder that asserts itself (1) in Leydig cells where it is associated with, and is probably a result of, impaired lipid metabolism and steroidogenesis, and (2) in Sertoli cells where it is perhaps attributable to arrested spermatogenesis and impaired steroidogenesis.     

Carcinocythemia. Report of two cases, one simulating a Burkitt lymphoma

Carcinocythemia is a rare complication of metastatic carcinoma, characterized by the presence of carcinoma cells in the peripheral blood, which may mimic acute leukemia. Two cases are reported in which the patients developed carcinocythemia several years after being treated for carcinoma of the breast. Cytologic examination of peripheral blood smears in both cases showed the presence of numerous large abnormal cells; in one case the cells simulated those of a Burkitt lymphoma. Cytochemical and/or immunologic marker studies ruled out a hematopoietic origin of the malignant cells in both cases and confirmed a diagnosis of carcinocythemia. The rapidly fatal outcome observed in these two cases was in accordance with the poor prognosis usually encountered with this rare phenomenon.     

Testicular responsiveness to a single hCG dose in patients with testicular feminization

The suggestion that androgens may regulate testosterone (T) production in rat Leydig cells by a receptor-mediated feed-back mechanism, led us to investigate whether in vivo the absence of testicular androgen receptors, as it occurs in testicular feminization (TF), may modify the characteristic testicular response observed in men and prepubertal children after a single dose of hCG. Subjects consist of: 1) six normal men, 2) two adult patients with the complete form of androgen insensitivity syndrome (TF), 3) 12 normal prepubertal boys, 4) one prepubertal boy with the same form of TF. Each subject received i.m. a single dose of hCG 3500 IU/m2 b.s. and blood samples were collected basally and 2, 4, 24, 48, 72 and 96 hours after the hormonal stimulus. Serum levels of T, 17 alpha hydroxyprogesterone (17OHP) and 17 beta estradiol (E2) were measured at each collection time. In normal men a significant increase in T (M +/- SE) was observed at 4 h (758.6 +/- 135 ng/dl, P less than 0.05) and a more significant increase at 48 h (1082 +/- 60.3 ng/dl, P less than 0.001). E2 and 17OHP peaked significantly at 24 h (81.5 +/- 9.6 pg/ml and 460.7 +/- 90.9 ng/dl respectively). This response pattern is characteristic of the testicular desensitization which occurs in normal man after a single hCG dose. The same response pattern has been observed in the two TF adult patients suggesting that human testicular desensitization in vivo does not depend on androgen receptors.(ABSTRACT TRUNCATED AT 250 WORDS)     

Comparative studies in two cases of testicular feminization syndrome,one with and the other without the fluorescent distal band q12 of the Y

Summary In two patients with testicular feminization syndrome, one Yq12-positive and the other Yq12-negative, we compared phenotype, gonadal histology and ultrastructure, in vivo steroid response of the testes to the administration of exogenous gonadotropin during adrenal suppression, and of the adrenal gland to ACTH. The assumption that the constitutive Y heterochromatin could function as a regulator of steroid biosynthesis and metabolism, with or without effect at other levels, was not firmly supported by the observations reported here. However, further studies along this line may help elucidate the biologic role of this portion of the Y chromosome in humans.     

A study of the interaction between two proteins,one containing a flavin mononucleotide

Interaction between cytochrome c and flavocytochrome b₂ has been studied in presence of 2-p-toluidinylnaphthalene-6-sulfonate (TNS). Affinity of the probe to flavocytochrome b₂ increase when the complex between the two proteins is obtained. Binding of TNS increases the fluorescence of flavocytochrome b₂ FMN. When the stoichiometry of complex between the two proteins is reached, TNS looses its affinity and stops binding on the flavocytichrome b₂; consequently, FMN fluorescence increase is no more observed. The dissociation constant of the complex was found equal to 0.1 μM. A similar result was obtained for the interaction between cytochrome c and flavodehydrogenase domain. The latter was obtained by proteolysis of flavocytochrome b₂.     

Prenatal diagnosis of 3 cases of ring G chromosomes: one 21 and two 22, one of which was de novo

Three cases of ring G chromosome diagnosed by amniocentesis are reported. In two instances there was paternal transmission of a ring (one r21 and one r22) without clinical manifestation in the fathers, and the two babies resulting from these pregnancies were normal at birth. In the third case, in which a de novo ring 22 was observed in association with IUGR and oligoamnios, the fetus was aborted. The variable phenotypic effects of ring G chromosomes, as well as several aspects of genetic counseling are discussed.