[PDF][PDF] The Role of Genetic Mutations in XX Male Syndrome

S Asadi, AH Kiani - Clinical Medicine and Medical Research, 2020 - clinicalmedicine.in
The XX male syndrome results from crossover between the X and Y chromosomes outside
of the pseudoautosomal region during Meiosis I, which transfers the SRY (sex-determining …

[HTML][HTML] XX testicular disorder of sex differentiation: case report

B Bianco, DM Christofolini, FR Ghersel… - Einstein (Sao …, 2011 - SciELO Brasil
The 46 XX, testicular sex differentiation disorder, or XX male syndrome, is a rare condition
detected by cytogenetics, in which testicular development occurs in the absence of the Y …

Clinical and molecular analysis of XX sex reversed patients

TF KOLON, FA FERRER, PH McKENNA - The Journal of urology, 1998 - Elsevier
PURPOSE: The XX male syndrome presents with a spectrum of clinical appearances from
phenotypic male individuals to true hermaphrodites. Previous reports established the sex …

Recessive sex-determining genes in human XX male syndrome

A de la Chapelle, GC Koo, SS Wachtel - Cell, 1978 - cell.com
Maleness is normally inherited as a dominant trait (a single copy of the Y chromosome
induces testicular differentiation of the embryonic gonad), but our genealogic study of three …

Familial XX chromosomal maleness does not arise from a Y chromosomal translocation

H Ostrer, G Wright, M Clayton, N Skordis… - The Journal of …, 1989 - Elsevier
To determine the mechanism for the coexistence of XX chromosomal maleness and true
hermaphroditism in the same family, we performed cytogenetic and molecular genetic …

[HTML][HTML] Distúrbio da diferenciação sexual testicular XX: relato de caso

B Bianco, DM Christofolini, FR Ghersel… - einstein (São …, 2011 - SciELO Brasil
The 46 XX, testicular sex differentiation disorder, or XX male syndrome, is a rare condition
detected by cytogenetics, in which testicular development occurs in the absence of the Y …

XX-male syndrome bearing the sex-determining region Y

H Tomomasa, Y Adachi, M Iwabuchi… - Archives of …, 1999 - Taylor & Francis
The case of a 25-year-old man who presented for evaluation of infertility is described. The
physical examination revealed testicular atrophy without gynecomastia. Repeated seminal …

Infantile XX male: A case report

A Miyashita, K Isurugi, H Aoki - Clinical Genetics, 1976 - Wiley Online Library
A case of infantile XX male syndrome with bilateral scrotal testes and penoscrotal
hypospadias is presented. No evidence of XX/XY mosaicism or Y chromatin was obtained in …

The XX Male SRY Syndrome: An Association With Autoimmunity?: Case Report and Review of the Literature

AB Wachter, ES Nylen, KL Becker - The Endocrinologist, 2009 - journals.lww.com
The XX male sex reversal syndrome represents a rare cause of male hypogonadism.
Clinically, it is similar to Klinefelter syndrome in that patients present with small testes …

Clinical management issues in males with sex chromosomal mosaicism and discordant phenotype/sex chromosomal patterns

DC Van Dyke, JW Hanson, JW Moore… - Clinical …, 1991 - journals.sagepub.com
The recent availability of Y DNA probes has made it possible to identify two forms of 46, XX
male syndrome: Y DNA positive and Y DNA negative. The Y DNA positive male results from …