XX Male

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A Belgorosky - One of the best experts on this subject based on the ideXlab platform.

  • Report of an XX Male with Hypospadias and Pubertal Gynecomastia, SRY Gene Negative in Blood Leukocytes but SRY Gene Positive in Testicular Cells
    Hormone research, 1997
    Co-Authors: A Dardis, H Mendilaharzu, N Saraco, M A Rivarola, A Belgorosky
    Abstract:

    Most XX Male subjects present an anomalous translocation of the sex-determining region of the chromosome Y (SRY) gene from chromosome Y to chromosome X. Several explanations have been proposed for the differentiation of testicular tissue in the absence of the SRY gene. A patient is presented in whom the SRY gene was absent in peripheral leukocytes but present in testicular tissue. This possibility should always be ruled out before diagnosing Y-negative XX Maleness.

  • PRESENCE OF THE SRY GENE IN TESTICULAR CELLS OF AN XX KALE WITH NEGATIVE SRY IN BLOOD CELLS
    Pediatric Research, 1995
    Co-Authors: A Dardis, H Mendilaharzu, N Saraco, M A Rivarola, A Belgorosky
    Abstract:

    Testis differentiation is under the control of a testis-determining factor borne by the Y chromosome. SRY, a gene cloned from the sex-determining region of the human Y chromosome, has been equated with the testis-determining factor. Between 80 and 90% of sex-reversed XX Male individuals have an anomalous Y in X chromosome translocation during meiosis. It has been postulated that XX Male SRY negative individuals might experience testicular differentiation in the absence of the SRY gene. However, there is scarce information on the presence of SRY in testicular tissue of XX Males with absence of the SRY gene in leucocytes from peripheral blood. We studied a 16-year-old 46 XX Male who had hypospadias, bilateral gynecomastia, and 8cc bilateral testes with multiple testicular cysts. A testicular biopsy showed atrophic seminiferous tubules, germinal aplasia and relative Leydig cell hyperplasia. The SRY gene was studied by PCR and Southern blot analysis in DNA extracted from blood leucocytes using a SRY fragment as a probe, and only by PCR in DNA extracted from testicular tissue embedded in paraffin. The SRY gene could not be demonstrated in peripheral leucocytes neither by repetitive PCR nor by Southern blot analysis in the presence of adequate controls. However, SRY was present after PCR amplification of testicular tissue. We conclude that the SRY gene should be studied in testicular tissue for etiologic diagnosis in XX Males who are SRY negative in peripheral leucocyte studies. This finding suggests that the SRY positive cell line in the gonad was responsible for testicular differentiation in this subject.

Paul Thomas - One of the best experts on this subject based on the ideXlab platform.

  • Interchromosomal Insertional Translocation at Xq26.3 Alters SOX3 Expression in an Individual With XX Male Sex Reversal
    The Journal of Clinical Endocrinology & Metabolism, 2015
    Co-Authors: Bryan P. Haines, James N. Hughes, Mark A. Corbett, Marie Shaw, Josie Innes, Leena Patel, Jozef Gecz, Jill Clayton-smith, Paul Thomas
    Abstract:

    Context: 46,XX Male sex reversal occurs in approximately 1: 20 000 live births and is most commonly caused by interchromosomal translocations of the Y-linked sex-determining gene, SRY. Rearrangements of the closely related SOX3 gene on the X chromosome are also associated with 46,XX Male sex reversal. It has been hypothesized that sex reversal in the latter is caused by ectopic expression of SOX3 in the developing urogenital ridge where it triggers Male development by acting as an analog of SRY. However, altered regulation of SOX3 in individuals with XX Male sex reversal has not been demonstrated. Patients and Methods: Here we report a boy with SRY-negative XX Male sex reversal who was diagnosed at birth with a small phallus, mixed gonads, and borderline-normal T. Molecular characterization of the affected individual was performed using array comparative genomic hybridization, fluorescent in situ hybridization of metaphase chromosomes, whole-genome sequencing, and RT-PCR expression analysis of lymphoblast...

  • XX Male sex reversal with genital abnormalities associated with a de novo SOX3 gene duplication.
    American Journal of Medical Genetics Part A, 2012
    Co-Authors: Sharon Moalem, Paul Thomas, Riyana Babul-hirji, Dmitri J Stavropolous, Diane Wherrett, Darius J Bägli, David Chitayat
    Abstract:

    Differentiation of the bipotential gonad into testis is initiated by the Y chromosome-linked gene SRY (Sex-determining Region Y) through upregulation of its autosomal direct target gene SOX9 (Sry-related HMG box-containing gene 9). Sequence and chromosome homology studies have shown that SRY most probably evolved from SOX3, which in humans is located at Xq27.1. Mutations causing SOX3 loss-of-function do not affect the sex determination in mice or humans. However, transgenic mouse studies have shown that ectopic expression of Sox3 in the bipotential gonad results in upregulation of Sox9, resulting in testicular induction and XX Male sex reversal. However, the mechanism by which these rearrangements cause sex reversal and the frequency with which they are associated with disorders of sex development remains unclear. Rearrangements of the SOX3 locus were identified recently in three cases of human XX Male sex reversal. We report on a case of XX Male sex reversal associated with a novel de novo duplication of the SOX3 gene. These data provide additional evidence that SOX3 gain-of-function in the XX bipotential gonad causes XX Male sex reversal and further support the hypothesis that SOX3 is the evolutionary antecedent of SRY.

Mary C Phelan - One of the best experts on this subject based on the ideXlab platform.

  • Velocardiofacial syndrome in an unexplained XX Male.
    American journal of medical genetics. Part A, 2003
    Co-Authors: Mary C Phelan, R Curtis Rogers, Eric C Crawford, Laura G Brown, David C Page
    Abstract:

    We report the unusual finding of velocardiofacial syndrome (VCF) in an unexplained 46,XX Male. A microdeletion of 22q11.2 was confirmed by fluorescence in situ hybridization (FISH) analysis. Routine G-banded chromosome analysis revealed an XX sex chromosome constitution. FISH was performed using the SRY probe and failed to detect hybridization. The sex chromosome status of the patient was further investigated by PCR testing to screen for the presence of 24 distinct loci spanning the Y chromosome. PCR screening failed to detect any apparent Y chromosome material.

  • velocardiofacial syndrome in an unexplained XX Male
    American Journal of Medical Genetics Part A, 2003
    Co-Authors: Mary C Phelan, Laura G Brown, Curtis R Rogers, Eric Crawford, David L. Page
    Abstract:

    We report the unusual finding of velocardiofacial syndrome (VCF) in an unexplained 46,XX Male. A microdeletion of 22q11.2 was confirmed by fluorescence in situ hybridization (FISH) analysis. Routine G-banded chromosome analysis revealed an XX sex chromosome constitution. FISH was performed using the SRY probe and failed to detect hybridization. The sex chromosome status of the patient was further investigated by PCR testing to screen for the presence of 24 distinct loci spanning the Y chromosome. PCR screening failed to detect any apparent Y chromosome material. © 2002 Wiley-Liss, Inc.

  • clinical report velocardiofacial syndrome in an unexplained XX Male
    2003
    Co-Authors: Mary C Phelan, Laura G Brown, Curtis R Rogers, Eric Crawford, David L. Page
    Abstract:

    Whitehead Institute, Cambridge, MassachusettsWe report the unusual finding of velocardio-facial syndrome (VCF) in an unexplained46,XX Male. A microdeletion of 22q11.2 wasconfirmed by fluorescence in situ hybridi-zation (FISH) analysis. Routine G-bandedchromosome analysis revealed an XX sexchromosome constitution. FISH was per-formed using the SRY probe and failed todetect hybridization. The sex chromosomestatus of the patient was further investi-gated by PCR testing to screen for thepresence of 24 distinct loci spanning the Ychromosome. PCR screening failed to detectany apparent Y chromosome material.

S Kofman-alfaro - One of the best experts on this subject based on the ideXlab platform.

  • Two SRY-negative XX Male brothers without genital ambiguity.
    Human genetics, 1997
    Co-Authors: J C Zenteno, M López, C Vera, J P Méndez, S Kofman-alfaro
    Abstract:

    We report a Mexican family in which two sibs were identified as "classic" XX Males without genital ambiguities. Molecular studies revealed that both patients were negative for several Y sequences, including SRY. A review of familial cases disclosed that this is the first family where a complete Male phenotype was observed in Y-negative XX Male non-twin brothers. These data suggest that an inherited loss-of-function mutation, in a gene participating in the sex-determining cascade, can induce normal Male sexual differentiation in the absence of SRY.

Velibor Tasic - One of the best experts on this subject based on the ideXlab platform.

  • 740 Duplication of the Sox3 Gene in a Sry Negative 46, XX Male
    Archives of Disease in Childhood, 2012
    Co-Authors: Zoran Gucev, Ali G. Gharavi, Simone Sanna-cherchi, Felix G. Riepe, Velibor Tasic
    Abstract:

    Case presentation An 11 old patient with hypoplasia of the right kidney and hypospadias was found to be SRY negative, 46, XX. His parents and younger sister were healthy. His intelligence was normal (IQ 92) and he had no other anomalies. The behavior, growth and development were all normal. His testes were >4ml and the penis was 5 cm. Ultrasound and MRI did not show internal feMale genitals, while confirming right kidney hypoplasia (as did the DMSA scan). ACTH test showed normal basal and stimulated 17OH-progesterone excluding a form of 46XX DSD due to 21-hydroxylase deficiency. 11-DOC and 11S were normal at both baseline and after ACTH stimulation, excluding 11-hydroxylase deficiency. Cortisol levels were in the mid normal range at baseline and responded to stimulation, excluding primary adrenal insufficiency. Androstenedione, The hCG test found testosterone in the low normal range for Male sex and age at baseline. It rised up to 146 ng/mL indicating the presence of functional Leydig cells targeted by hCG. The stimulated ratio T:DHT was 5.6, not supporting 5 alpha-reductase deficiency. SNP array for copy number variations (CNV’s) showed a unique 550 kb duplication involving SOX3, RP1–177G6, and CDR1 genes, and the microRNA MIR320D2. This CNV was absent in 13,839 controls. Conclusions A SRY negative 46, XX Male with renal hypodysplasia was found to have an exceedingly rare duplication involving the SOX-3 gene, proving its role in sex determination and suggesting its evolvement in kidney development.