46,XX Male - Testicular Disorder of Sexual Differentiation (DSD): hormonal, molecular and cytogenetic studies
نویسندگان
چکیده
منابع مشابه
46,XX male - testicular disorder of sexual differentiation (DSD): hormonal, molecular and cytogenetic studies.
The XX male syndrome - Testicular Disorder of Sexual Differentiation (DSD) is a rare condition characterized by a spectrum of clinical presentations, ranging from ambiguous to normal male genitalia. We report hormonal, molecular and cytogenetic evaluations of a boy presenting with this syndrome. Examination of the genitalia at age of 16 months, showed: penis of 3.5 cm, proximal hypospadia and s...
متن کاملThe molecular basis of male sexual differentiation.
Male sexual differentiation is the result of complex mechanisms involving developmental genetics and endocrinology. Formation of the bipotential gonads and subsequently the testes is dependent on a series of sex chromosome-linked and autosomal genes. The testes secrete both peptide and steroid hormones essential for the formation of internal and external genitalia. Hormone action is mediated vi...
متن کاملCytogenetic, molecular and testicular tissue studies in an infertile 45,X male carrying an unbalanced (Y;22) translocation: case report.
(Y;autosome) translocations have been reported in association with male infertility. Different mechanisms have been suggested to explain the male infertility, such as deletion of the azoospermic factor (AZF) on the long arm of the Y chromosome, or meiosis impairment. We describe a new case with a de novo unbalanced translocation t(Y;22) and discuss the genotype-phenotype correlation. A 36 year ...
متن کاملClinical, molecular and cytogenetic analysis of 46, XX testicular disorder of sex development with SRY-positive
BACKGROUND To review the possible mechanisms proposed to explain the etiology of 46, XX sex reversal by investigating the clinical characteristics and their relationships with chromosomal karyotype and the SRY(sex-determining region Y)gene. METHODS Five untreated 46, XX patients with SRY-positive were referred for infertility. Clinical data were collected, and Karyotype analysis of G-banding ...
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Conventional cytogenetic analysis of chromosome abnormalities in hematologic malignancies is hampered by the low mitotic index and poor quality of metaphases. A range of techniques based on fluorescence in situ hybridization (FISH) has greatly enhanced the identification of non-random translocations and deletions, pinpointing regions which contain genes involved in leukemogenesis. One of the ma...
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ژورنال
عنوان ژورنال: Arquivos Brasileiros de Endocrinologia & Metabologia
سال: 2010
ISSN: 0004-2730
DOI: 10.1590/s0004-27302010000800004