Reproductive system

• DSD-associated tumors
  19 January 2011

  Tumors associated with disorders of sexual differentiation

• 46,XY partial gonadal dysgenesis with minifascicular neuropathy
  27 October 2010

  46,XY partial gonadal dysgenesis with minifascicular neuropathy may be caused by mutation in the desert hedgehog gene (DHH; MIM.605423).
  Mutations in the DHH gene have also been found in patients with 46,XY complete gonadal dysgenesis who do not have minifascicular neuropathy (DHH-associated gonadal dysgenesis) (MIM.233420).
  See also
  46,XY gonadal dysgenesis 46,XY partial gonadal dysgenesis 46,XY pure gonadal (...)

• DHH-associated 46,XY gonadal dysgenesis
  27 October 2010

  DHH-associated 46,XY gonadal dysgenesis can be caused by a mutation in the desert hedgehog gene (DHH; MIM.605423) on chromosome 12q13.
  See also
  46,XY pure gonadal dysgenesis
  Synopsis
  phenotypic females
  46,XY
  complete gonadal dysgenesis (complete 46,XY pure gonadal dysgenesis)
  bilateral streaks
  infantile uterus
  bilateral fallopian tubes
  unilateral epididymis or bilateral epididymis
  possible gonadal tumors
  possible bilateral gonadoblastoma
  possible bilateral (...)

• 46,XX intersex
  19 October 2010

  Three main categories have been used to describe DSD in the 46,XX individual:
  1) disorders of gonadal (ovarian) development: ovotesticular DSD, previously named true hermaphroditism, testicular DSD, previously named XX males, gonadal dysgenesis;
  2) disorders related to androgen excess congenital adrenal hyperplasia aromatase deficiency P450 oxidoreductase deficiency.
  3) other rare disorders.
  Physiopathology
  The most important genes controlling the initial phase of gonadal (...)

• 46,XY pure gonadal dysgenesis
  9 October 2010

  Digital cases
  Case 271 : 46,XY Pure gonadal dysgenesis. Streak gonad.
  Definition : The 46,XY pure gonadal dysgenesis is more common than the 46,XX pure gonadal dysgenesis.
  Etiology
  DHH germline mutations
  DHH-asssociated gonadal dysgenesis (MIM.233420)
  The syndrome of 46,XY pure gonadal dysgenesis may be sporadic or familial with either X-linked recessive or autosomal recessive patterns of inheritance.
  Some patients have a 45,X/46,XY mosaicism and are close to mixed gonadal (...)

• 46,XX type pure gonadal dysgenesis
  9 October 2010

  The 46,XX type pure gonadal dysgenesis is usually an autosomal recessive disorder, but, less frequently, may be due to an abnormality of the X chromosome, possibly as a mosaic 45,X cell line confi ned to the gonad.
  Deletions of the short or long arm of an X chromosome have been identified in some cases. Such patients have greater ovarian development than those with 46,XY pure gonadal dysgenesis or Turner syndrome and present more often with signs of ovarian dysfunction (secondary (...)

• anomalies of sex determination
  8 October 2010

  disorders of sex determination;

• complete androgen insentivity
  8 October 2010

  CAI syndrome

• sex reversal
  7 October 2010

  Types
  XY female
  XX male
  References
  Functional disomy of Xp including duplication of DAX1 gene with sex reversal due to t(X;Y)(p21.2;p11.3). Sanlaville D, Vialard F, Thépot F, Vue-Droy L, Ardalan A, Nizard P, Corré A, Devauchelle B, Martin-Denavit T, Nouchy M, Malan V, Taillemite JL, Portnoï MF. Am J Med Genet A. 2004 Jul 30;128A(3):325-30. PMID: #15216557#
  Mutations in the SRY, DAX1, SF1 and WNT4 genes in Brazilian sex-reversed patients. Domenice S, Corrêa RV, Costa EM, Nishi MY, (...)

• isolated 46,XY gonadal dysgenesis
  7 October 2010

  Testis development is a tightly regulated process that requires an efficient and coordinated spatiotemporal action of many factors, and it has been shown that several genes involved in gonadal development exert a dosage effect.
  Chromosomal imbalances have been reported in several patients presenting with gonadal dysgenesis as part of severe dysmorphic phenotypes.
  Etiology
  Xp21.2 interstitial duplication containing the DAX1 gene (#17504899#)
  duplication on Xp21.2 has been identified in (...)

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