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2,901 Possible Causes for 46,XY Complete Gonadal Dysgenesis

Did you mean: 46, XY Complete, Gonadal Dysgenesis

  • Gonadoblastoma

    Abstract 46, XY complete gonadal dysgenesis (Swyer syndrome) is a rare cause of 46, XY sexual development disorder.[] BACKGROUND: Swyer syndrome is a distinct type of pure gonadal dysgenesis characterized by a 46 XY karyotype in female phenotypic patients.[] Gonadectomy without adjuvant therapies could be done in 46,XY gonadal dysgenetic women with gonadoblastoma in view of preservation of future fertility.[]

  • Female Infertility due to Anovulation

    Differential diagnosis The differential diagnosis should include hypergonadotropic ovarian dysgenesis (46,XX GD) and all forms of syndromic 46,XY CGD (for example, Frasier[] […] confirmed the diagnosis of complete XY gonadal dysgenesis due to a mutation in the SRY gene.[] Differential diagnosis The differential diagnosis should include other causes of POF, as well as 46,XY complete gonadal dysgenesis (see these terms).[]

  • Frasier Syndrome

    The proband carries a classic diagnosis of Frasier syndrome with 46,XY gonadal dysgenesis, whereas her sister has progressive glomerulopathy but a 46,XX karyotype and normal[] […] woman with pure gonadal dysgenesis (46, XY karyotype, completely female external genitalia, normal Mullerian ducts, absence of Wolffian ducts, streak gonads) who had right[] Frasier syndrome is characterized by a 46 XY disorder of sex development, nephropathy, and increased risk for gonadoblastoma due to Wilms tumor 1(WT1) mutation in the donor[]

  • Turner Syndrome

    INTRODUCTION: A 45,X/46,XY karyotype in women with Turner syndrome (TS) is very rare.[] […] edit English Turner syndrome Human disease Bonnevie-Ullrich syndrome Bonnevie-Ullrich syndrome NOS Bonnevie-Ullrich syndrome NOS (disorder) Gonadal dysgenesis - Turner Karyotype[] Common Name Turner syndrome Medical or Scientific Names Turner syndrome Monosomy X 45,X Ullrich-Turner syndrome TS Gonadal dysgenesis BACK TO TOP[]

  • Gonadal Dysgenesis

    Homozygous DHH mutations cause a specific peripheral neuropathy in humans with both 46,XY and 46,XX karyotypes.[] We describe the first MAMLD1 mutation in a 46,XY patient with complete gonadal dysgenesis.[] Here we describe a case of XY complete gonadal dysgenesis due to a p.D293N homozygous mutation in the NR5A1 gene, with normal SRY and no adrenal failure.[]

  • Leydig Cell Hypoplasia due to LHB Deficiency

    Homepage Rare diseases Search Search for a rare disease Leydig cell hypoplasia due to LHB deficiency ORPHA:325448 Synonym(s): 46,XY DSD due to LHB deficiency 46,XY DSD due[] dysgenesis 46,XX ovotesticular disorder of sex development 46,XX testicular disorder of sex development 46,XY complete gonadal dysgenesis 46,XY disorder of gonadal development[] ,XY DSD due to LHB deficiency - 46,XY DSD due to luteinizing hormone subunit beta deficiency - 46,XY disorder of sex development due to LHB deficiency - 46,XY disorder of[]

  • Ovarian Dysgenesis

    Cytogenetic studies revealed a normal female (46,XX) karyotype in all the affected members.[] […] confirmed the diagnosis of complete XY gonadal dysgenesis due to a mutation in the SRY gene.[] Abstract Gonadal (ovarian) dysgenesis with normal chromosomes (46,XX) clearly is a heterogeneous condition.[]

  • Denys-Drash Syndrome

    We report 2 patients who presented with genital ambiguity and were diagnosed as 46-XY DDS.[] A 1-year-old child with XY gonadal dysgenesis underwent genital reconstruction.[] Our aim is to report a novel WT1 mutation in a 46,XY patient with a DDS variant, who presented a mild nephropathy with a late onset diagnosed during adolescence.[]

  • Primary Amenorrhea

    Partial pubertal development in a 46,XY sex-reversed patient does not exclude SRY gene mutation.[] gonadal dysgenesis; 46,XX gonadal dysgenesis; hypogonadotropic hypogonadism; enzyme-deficient states; gonadotropin resistance; and androgen insensitivity.[] Amongst 88 cases of gonadal dysgenesis, 59 cases (67.0%) incurred abnormal karyotype including 45X (n 21), mosaic (n 31), and others (n 7).[]

  • 46,XY Disorder of Sex Development

    In humans, steroidogenic factor 1 (NR5A1/SF-1) mutations have been reported to cause gonadal dysgenesis, with or without adrenal failure, in both 46,XY and 46,XX individuals[] […] development (DSD) or complete gonadal dysgenesis (CGD) in patients with a 46,XY karyotype.[] There have been several reports of NR5A1 mutations in individuals with 46,XY complete gonadal dysgenesis (CGD) or other disorders of sex development (DSD) with or without[]

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