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

Did you mean: 46, XX Complete, Gonadal Dysgenesis

  • Gonadoblastoma

    Gonadoblastoma has been found in association with androgen insensitivity syndrome, mixed gonadal dysgenesis and Turner syndrome, especially in the presence of Y chromosome-bearing[en.wikipedia.org] Abstract 46, XY complete gonadal dysgenesis (Swyer syndrome) is a rare cause of 46, XY sexual development disorder.[ncbi.nlm.nih.gov] BACKGROUND: Swyer syndrome is a distinct type of pure gonadal dysgenesis characterized by a 46 XY karyotype in female phenotypic patients.[ncbi.nlm.nih.gov]

  • Female Infertility due to Anovulation

    SEMINAR 1 : CONTRACEPTION / SEXUAL DIFFERENTIATION Sexual Differentiation : Gonadal Dysgenesis Gonadal dysgenesis is characterized by Turner's syndrome in which women preset[library.med.utah.edu] Differential diagnosis The differential diagnosis should include hypergonadotropic ovarian dysgenesis (46,XX GD) and all forms of syndromic 46,XY CGD (for example, Frasier[orpha.net] Turner’s syndrome is one of the most common chromosomal abnormalities affecting 1 in 2500 live births.[endocrine-abstracts.org]

  • Frasier Syndrome

    Abstract The description of Frasier syndrome until now has been restricted to XY females with gonadal dysgenesis, progressive glomerulopathy, and a significant risk of gonadoblastoma[ncbi.nlm.nih.gov] 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[ncbi.nlm.nih.gov] Characteristic features are mesangial sclerosis with early kidney failure, varying degrees of gonadal dysgenesis and high risk of Wilms' tumors.[ncbi.nlm.nih.gov]

  • Turner Syndrome

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

  • Gonadal Dysgenesis

    […] of complete gonadal dysgenesis, one case of ovotesticular DSD.[ncbi.nlm.nih.gov] Homozygous DHH mutations cause a specific peripheral neuropathy in humans with both 46,XY and 46,XX karyotypes.[ncbi.nlm.nih.gov] gonadal dysgenesis, and 45,X/46,XY mosaicism Turner syndrome also known as 45,X or 45,X0 Endocrine disruptions 46,XX gonadal dysgenesis is characteristic of female hypogonadism[en.wikipedia.org]

  • Ovarian Dysgenesis

    Cytogenetic studies revealed a normal female (46,XX) karyotype in all the affected members.[ncbi.nlm.nih.gov] complete gonadal dysgenesis (CGD) in patients with a 46,XX karyotype.[dnatesting.uchicago.edu] Abstract Gonadal (ovarian) dysgenesis with normal chromosomes (46,XX) clearly is a heterogeneous condition.[ncbi.nlm.nih.gov]

  • Denys-Drash Syndrome

    A 1-year-old child with XY gonadal dysgenesis underwent genital reconstruction.[ncbi.nlm.nih.gov] We report 2 patients who presented with genital ambiguity and were diagnosed as 46-XY DDS.[ncbi.nlm.nih.gov] 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.[ncbi.nlm.nih.gov]

  • Primary Amenorrhea

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

  • 46,XX Ovotesticular Disorder of Sex Development

    Advertisement Ovary - nontumor Gonadal dysgenesis Pure (complete) gonadal dysgenesis - 46,XX Author : Mohiedean Ghofrani, M.D.[pathologyoutlines.com] ,XX with streak gonads Q99.1 46,XY with streak gonads Q99.1 Karyotype 46,XX Q98.3 ICD-10-CM Diagnosis Code Q98.3 Other male with 46, XX karyotype 2016 2017 2018 2019 Billable[icd10data.com] Discordance of identical twins for 46, XX pure gonadal dysgenesis suggests that environmental factors may be a causative factor in some of the karyotypically normal 46,XX[ncbi.nlm.nih.gov]

  • 46,XY Disorder of Sex Development

    ’s syndrome and variants) 45,X/46,XY mosaicism (mixed gonadal dysgenesis) 46,XX/46,XY (chimerism/mosaicism) Disorders of gonadal (testis) development Complete or partial gonadal[accessmedicine.mhmedical.com] 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[ncbi.nlm.nih.gov] […] female karyotype, and total anomalous pulmonary venous drainage. ( 3998935 ) 1985 39 Gonadal dysgenesis in a 46,XY female mosaic for double autosomal trisomies 8 and 21.[malacards.org]

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