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1/11. Ultrastructural study of testis in testicular feminization.

    Testicular tissue was investigated by electron microscopy in a case of testicular feminization. The seminiferous tubules were lined by spermatogonia and by sertoli cells. Spermatocytic maturation was not observed. leydig cells were numerous and contained well developed, abundant vesicular smooth-surfaced endoplasmic reticulum and large mitochondria with tubulovesicular cristae. Reinke crystalloids were absent. The ultrastructural findings were consistent with the assumption that leydig cells were under adequate stimulation and were in a stage of active secretion. Hence, the results seem to indicate that testicular endocrine function was maintained in the studied case.
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keywords = seminiferous tubule, tubule
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2/11. Embryonic testicular regression syndrome: a case report.

    A case of testicular regression syndrome was reported. The patient was an 18 year old girl presenting with primary amenorrhoea. physical examination revealed normal female external genitalia and underdeveloped secondary sexual characteristics. Hormonal profile indicated gonadal failure. Chromosome analysis revealed 46,XY karyotype. Diagnostic laparoscopy demonstrated undeveloped internal genital organs. Remnants of epididymis, vas deferens and seminiferous tubule were uncovered during exploratory laparotomy. Ontogeny of sexual differentiation and pathogenesis of testicular regression syndrome were reviewed and discussed.
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keywords = seminiferous tubule, tubule
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3/11. Novel point mutation in the splice donor site of exon-intron junction 6 of the androgen receptor gene in a patient with partial androgen insensitivity syndrome.

    Androgen receptor (AR) gene mutations have been shown to cause androgen insensitivity syndrome with altered sexual differentiation in XY individuals, ranging from a partial insensitivity with male phenotype and azoospermia to a complete insensitivity with female phenotype and the absence of pubic and axillary sexual hair after puberty. In this study we present an 11-yr-old XY girl, with clinical manifestations peculiar for impaired androgen biological action, including female phenotype, blind-ending vagina, small degree of posterior labial fusion, and absence of uterus, fallopian tubes, and ovaries. At the time of the diagnosis the patient had a FSH/LH ratio according to the puberal stage, undetectable 17beta-estradiol, and high levels of testosterone (80.1 ng/mL). After bilateral gonadectomy, performed at the age of 11 yr, histological examination showed small embryonic seminiferous tubules containing prevalently sertoli cells and occasional spermatogonia together with abundant fibrous tissue. Molecular study of the patient showed a guanine to thymine transversion in position 5 of the donor splice site in the junction between exon 6 and intron 6 of the AR gene. The result of RT-PCR amplification of the AR messenger ribonucleic acid from cultured genital skin fibroblasts of the patient suggests that splicing is defective, and intron 6 is retained in most of the receptor messenger ribonucleic acid molecules. We show by immunoblotting that most of the expressed protein lacks part of the C-terminal hormone-binding domain, and a small amount of normal receptor is observed. This is probably responsible for the reduced binding capacity in genital skin fibroblasts of the patient. The molecular basis of the alteration in this case is a novel, uncommon mutation, leading to a phenotype indicative of a partial androgen insensitivity syndrome, Quigley's grade 5.
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keywords = seminiferous tubule, tubule
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4/11. Distributional map of the terminal and sub-terminal sugar residues of the glycoconjugates in the prepubertal and postpubertal testis of a subject affected by complete androgen insensitivity syndrome (Morris's syndrome): lectin histochemical study.

    In the present research we have investigated the distribution of the sugar residues of the glycoconjugates in the prepubertal and postpubertal testes of a subject with Morris's syndrome (CAIS, Complete Androgen Insensitivity Syndrome). For this purpose a battery of six horseradish peroxidase-conjugated lectins was used (SBA, PNA, WGA, ConA, LTA and UEAI). We have obtained a complete distributional map of the terminal and sub-terminal oligosaccharides in the tunica albuginea, interstitial tissue, lamina propria of the seminiferous tubules, leydig cells, sertoli cells, spermatogonia, mastocytes and endothelial cells. Furthermore the present study has shown that a large amount of sugar residues were detectable in the prepubertal and postpubertal testes but that some differences exist with particular regard to the sertoli cells. The sertoli cells and the leydig cells of the retained prepubertal testis of the patient affected by Morris's syndrome were characterized by the presence of alpha-L-fucose, which was absent in the retained prepubertal testis of the normal subjects. Comparing the results on the postpubertal testis with those obtained on the same aged testis of healthy subjects we have demonstrated that alpha-L-fucose in the Sertoli and leydig cells and D-galactose-N-acetyl-D-galactosamine in the leydig cells are a unique feature of the subject affected by Morris's syndrome. D-galactose (ss1,3)-N-acetyl-D-galactosamine and sialic acid, which are present in the leydig cells of the normal testis were never observed in the same cells of the postpubertal testis of the CAIS patient.
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keywords = seminiferous tubule, tubule
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5/11. Immunohistochemical and ultrastructural study of sertoli cells in androgen insensitivity.

    The ultrastructure of a perfusion-fixed gonad in a case of androgen insensitivity was studied using thin sections and freeze-fracture replicas. The distribution and arrangement of intermediate filaments in sertoli cells was visualized immunohistochemically using an antibody against vimentin. leydig cells lacked Reinke crystals, but contained all of the cytoplasmic organelles involved in steroid synthesis and additionally several lysosomes. The basement membrane and the basal lamina of the testicular tubules were considerably thickened. The testicular tubules consisted of gonocytes and sertoli cells which had an immature nuclear structure, incomplete development of intercellular junctions and a primitive distribution pattern of intermediate cytoplasmic filaments. The previously reported differences in electron density of Sertoli cell cytoplasm are a non-specific feature without significance to Sertoli cell maturation.
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ranking = 0.0083731749013389
keywords = tubule
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6/11. A testicular tumor resembling the sex cord with annular tubules in a case of the androgen insensitivity syndrome.

    sex cord tumor with annular tubules (SCTAT) is a distinctive neoplasm with indifferent cells of sex cord derivation in a characteristic arrangement of ring-like tubules. Much attention has been drawn to its association with the peutz-jeghers syndrome (PJS) with reported occurrence of the tumor in the testis of a boy with PJS. The authors present two cases of the androgen insensitivity syndrome (AIS), one of the cases being distinctive in having a large multicystic tumor resembling the SCTAT in the immature gonad. Additionally, the focal areas of the tumor, the large sertoli cells lining the tubules, resembled those of a large cell calcifying sertoli cell tumor (LCCSCT) although no calcific areas were discernible. Although the occurrence of neoplasms like germinomas and tubular adenomas is well known in the AIS, SCTAT has hitherto not been reported in a gonad of the AIS. SCTAT has been placed under an "unclassified sex cord-stromal" category in the world health organization (WHO) classification, yet, opinions are divided as to its origin from a granulosa or Sertoli cell, although an overlap in the histologic features of the two cell categories is to be anticipated in view of their homologous nature. In the case presented, the close resemblance of the tumor cells to the sertoli cells of the uninvolved gonad would further support the concept of a Sertoli line of differentiation of the SCTAT.
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ranking = 0.029306112154686
keywords = tubule
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7/11. Incomplete androgen insensitivity: asymmetry in morphology and steroid profile and metabolism of the gonads. An analysis of a case.

    A patient with clinical manifestations of the incomplete androgen insensitivity syndrome was studied with respect to peripheral blood levels of steroids and steroid sulphates before, during and after gonadectomy. Steroid and steroid sulphate concentrations were also analyzed in spermatic venous blood and gonadal tissue collected during surgery. The metabolic capacity of gonadal tissue was also studied in vitro using progesterone, dehydroepiandrosterone sulphate and oestrone sulphate as substrates. Profound differences between the two gonads were noted with respect to both steroid content and release into pampiniform veins and to in vitro conversion of progesterone and oestrone sulphate. Histological examination revealed the presence of seminiferous tubules with carcinoma in situ in both gonads. It is suggested that the differences between the gonads may be due to an autonomous steroid production in the right gonad in spite of adequate or even elevated gonadotrophic stimulation resulting in a steroidogenic situation resembling the complete androgen insensitivity syndrome, while the conditions found in the left gonad more resembles the incomplete form of the disease.
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keywords = seminiferous tubule, tubule
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8/11. peutz-jeghers syndrome with feminizing sertoli cell tumor.

    A case involving a 6-year-old boy with peutz-jeghers syndrome and an unilateral feminizing sertoli cell tumor is described. Endocrinologic studies revealed consistently high plasma and urine levels of estrogens and normal levels of testosterone and dihydrotestosterone. The increased levels of estrogens did not show changes that could be correlated with exogenous gonadotropin administration, thus indicating an autonomous nature. The histopathologic studies of nontumorous testicular tissue revealed changes in the seminiferous tubules which suggested that estrogens, directly or indirectly, may have had both stimulating and atrophying effects. It is concluded that gonadal tumors are in additional manifestation of the peutz-jeghers syndrome gene in both male and female patients.
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keywords = seminiferous tubule, tubule
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9/11. A complete form of testicular feminisation syndrome; a light and electron microscopy study.

    A case is described of testicular feminisation syndrome in a 19-yr-old patient with a normal female appearance. A laparotomy with removal of the gonads was performed. The latter looked like testes with intraparenchymal nodules. light and electron microscopy study of these nodules revealed the presence of immature seminiferous-like tubules and of Leydig cell clusters. The tubules were filled with clear sertoli cells, few degenerative dark cells and scanty spermatogonia. Thin collagen bundles surrounded the tubules and the foci of leydig cells without any crystals of Reinke. The immaturity of all these cellular components could be connected with a mutation at a repressive locus which could be responsible for the abnormalities observed in the different steps of androgen action at target cell level.
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ranking = 0.012559762352008
keywords = tubule
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10/11. Corpus albicans-like structures in the gonads in androgen insensitivity syndrome.

    The complete androgen insensitivity syndrome is the most common form of male pseudohermaphroditism and is due to end-organ unresponsiveness to androgens. The patients are phenotypically female, but the genotype is 46, XY, and the gonads are testicles. However, the common presence of Sertoli cell adenomalike nodules of immature seminiferous tubules and the frequent presence of stroma resembling ovarian stroma may cause confusion about the nature of the gonad. Herein, we report the occurrence in such a gonad of corpus albicans-like structures, which resulted from progressive hyalinization and aggregation of immature tubules. These structures, which to our knowledge have not been previously described, must be recognized for what they represent to avoid misinterpretation in the pathologic evaluation of this disorder.
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ranking = 1.0041865874507
keywords = seminiferous tubule, tubule
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