FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2558431137> ?p ?o ?g. }

• W2558431137 abstract "Families with 46,XY Disorders of Sex Development (DSD) have been reported, but they are considered to be exceptionally rare, with the exception of the familial forms of disorders affecting androgen synthesis or action. The families of some patients with anorchia may include individuals with 46,XY gonadal dysgenesis. We therefore analysed a large series of patients with 46,XY DSD or anorchia for the occurrence in their family of one of these phenotypes and/or ovarian insufficiency and/or infertility and/or cryptorchidism. A retrospective study chart review was performed for 114 patients with 46,XY DSD and 26 patients with 46,XY bilateral anorchia examined at a single institution over a 33 year period. Of the 140 patients, 25 probands with DSD belonged to 21 families and 7 with anorchia belonged to 7 families. Familial forms represent 22% (25/114) of the 46,XY DSD and 27% (7/26) of the anorchia cases. No case had disorders affecting androgen synthesis or action or 5 α-reductase deficiency. The presenting symptom was genital ambiguity (n = 12), hypospadias (n = 11) or discordance between 46,XY karyotyping performed in utero to exclude trisomy and female external genitalia (n = 2) or anorchia (n = 7). Other familial affected individuals presented with DSD and/or premature menopause (4 families) or male infertility (4 families) and/or cryptorchidism. In four families mutations were identified in the genes SRY, NR5A1, GATA4 and FOG2/ZFPM2. Surgery discovered dysgerminoma or gonadoblastoma in two cases with gonadal dysgenesis. This study reveals a surprisingly high frequency of familial forms of 46,XY DSD and anorchia when premature menopause or male factor infertility are included. It also demonstrates the variability of the expression of the phenotype within the families. It highlights the need to the physician to take a full family history including fertility status. This could be important to identify familial cases, understand modes of transmission of the phenotype and eventually understand the genetic factors that are involved." @default.
• W2558431137 created "2016-12-08" @default.
• W2558431137 creator A5008108817 @default.
• W2558431137 creator A5018038134 @default.
• W2558431137 creator A5040699219 @default.
• W2558431137 creator A5046902524 @default.
• W2558431137 creator A5052768478 @default.
• W2558431137 creator A5054230515 @default.
• W2558431137 creator A5074089657 @default.
• W2558431137 date "2016-11-29" @default.
• W2558431137 modified "2023-10-18" @default.
• W2558431137 title "Familial forms of disorders of sex development may be common if infertility is considered a comorbidity" @default.
• W2558431137 cites W1965578351 @default.
• W2558431137 cites W1971742771 @default.
• W2558431137 cites W1974597510 @default.
• W2558431137 cites W1974759642 @default.
• W2558431137 cites W1979335379 @default.
• W2558431137 cites W2004562928 @default.
• W2558431137 cites W2019154548 @default.
• W2558431137 cites W2034239811 @default.
• W2558431137 cites W2038004114 @default.
• W2558431137 cites W2046864981 @default.
• W2558431137 cites W2047496323 @default.
• W2558431137 cites W2049249939 @default.
• W2558431137 cites W2049341058 @default.
• W2558431137 cites W2050451314 @default.
• W2558431137 cites W2051369247 @default.
• W2558431137 cites W2067787629 @default.
• W2558431137 cites W2074019299 @default.
• W2558431137 cites W2079465697 @default.
• W2558431137 cites W2088620684 @default.
• W2558431137 cites W2089515479 @default.
• W2558431137 cites W2089753131 @default.
• W2558431137 cites W2094932988 @default.
• W2558431137 cites W2105396451 @default.
• W2558431137 cites W2119533233 @default.
• W2558431137 cites W2123878413 @default.
• W2558431137 cites W2126418265 @default.
• W2558431137 cites W2132392207 @default.
• W2558431137 cites W2140144749 @default.
• W2558431137 cites W2146866662 @default.
• W2558431137 cites W2150135631 @default.
• W2558431137 cites W2156317041 @default.
• W2558431137 cites W2156526029 @default.
• W2558431137 cites W2296216892 @default.
• W2558431137 cites W2405064085 @default.
• W2558431137 cites W4232753436 @default.
• W2558431137 doi "https://doi.org/10.1186/s12887-016-0737-0" @default.
• W2558431137 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5129225" @default.
• W2558431137 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/27899089" @default.
• W2558431137 hasPublicationYear "2016" @default.
• W2558431137 type Work @default.
• W2558431137 sameAs 2558431137 @default.
• W2558431137 citedByCount "7" @default.
• W2558431137 countsByYear W25584311372017 @default.
• W2558431137 countsByYear W25584311372018 @default.
• W2558431137 countsByYear W25584311372019 @default.
• W2558431137 countsByYear W25584311372020 @default.
• W2558431137 crossrefType "journal-article" @default.
• W2558431137 hasAuthorship W2558431137A5008108817 @default.
• W2558431137 hasAuthorship W2558431137A5018038134 @default.
• W2558431137 hasAuthorship W2558431137A5040699219 @default.
• W2558431137 hasAuthorship W2558431137A5046902524 @default.
• W2558431137 hasAuthorship W2558431137A5052768478 @default.
• W2558431137 hasAuthorship W2558431137A5054230515 @default.
• W2558431137 hasAuthorship W2558431137A5074089657 @default.
• W2558431137 hasBestOaLocation W25584311371 @default.
• W2558431137 hasConcept C104317684 @default.
• W2558431137 hasConcept C134018914 @default.
• W2558431137 hasConcept C141071460 @default.
• W2558431137 hasConcept C187212893 @default.
• W2558431137 hasConcept C188997412 @default.
• W2558431137 hasConcept C2777688143 @default.
• W2558431137 hasConcept C2777990738 @default.
• W2558431137 hasConcept C2778324535 @default.
• W2558431137 hasConcept C2779234561 @default.
• W2558431137 hasConcept C2779272188 @default.
• W2558431137 hasConcept C2780302854 @default.
• W2558431137 hasConcept C29456083 @default.
• W2558431137 hasConcept C30481170 @default.
• W2558431137 hasConcept C501734568 @default.
• W2558431137 hasConcept C53226629 @default.
• W2558431137 hasConcept C54355233 @default.
• W2558431137 hasConcept C71315377 @default.
• W2558431137 hasConcept C71924100 @default.
• W2558431137 hasConcept C86803240 @default.
• W2558431137 hasConceptScore W2558431137C104317684 @default.
• W2558431137 hasConceptScore W2558431137C134018914 @default.
• W2558431137 hasConceptScore W2558431137C141071460 @default.
• W2558431137 hasConceptScore W2558431137C187212893 @default.
• W2558431137 hasConceptScore W2558431137C188997412 @default.
• W2558431137 hasConceptScore W2558431137C2777688143 @default.
• W2558431137 hasConceptScore W2558431137C2777990738 @default.
• W2558431137 hasConceptScore W2558431137C2778324535 @default.
• W2558431137 hasConceptScore W2558431137C2779234561 @default.
• W2558431137 hasConceptScore W2558431137C2779272188 @default.
• W2558431137 hasConceptScore W2558431137C2780302854 @default.
• W2558431137 hasConceptScore W2558431137C29456083 @default.
• W2558431137 hasConceptScore W2558431137C30481170 @default.
• W2558431137 hasConceptScore W2558431137C501734568 @default.

• next