Matches in SemOpenAlex for { <https://semopenalex.org/work/W1976263007> ?p ?o ?g. }
Showing items 1 to 84 of
84
with 100 items per page.
- W1976263007 abstract "The complete androgen insensitivity syndrome (AIS) is a sub-type of X-linked male pseudohermaphroditism resulting from total dysfunction of the androgen receptor. Affected patients are phenotypically female despite a 46,XY genotype; gonadal tissue displays a classic Sertoli cell-only pattern on microscopic examination. We describe the diagnosis and management of a 19(1/2)-year-old patient who presented for primary amenorrhea and absent cervix, identified incidentally during a routine Pap test. Serum total testosterone was elevated (725 ng/dl) and the karyotype was 46,XY. Molecular investigation for specific gene defect(s) causing disruption and functional incapacity of the androgen receptor was undertaken for the proband and her only sibling. From this we discovered a previously unknown hemizygous mutation (A-->T) in exon 4 of the androgen receptor gene, associated with replacement of asparagine (AAT) with tyrosine (TAT) in the resultant androgen receptor protein [N705Y]. Bidirectional, non-isotopic sequence analysis of exon 4 was next undertaken for the proband's sister who was found to be heterozygous for this mutation. Psychological and genetic counseling was provided to both individuals; the patient underwent an outpatient laparoscopic orchiectomy without complication. She continues to receive oral hormone replacement therapy following an oral contraceptive model. In this report, the clinical approach to AIS is outlined from a reproductive endocrinology perspective with special emphasis on psychological counseling and laboratory methods employed to confirm the diagnosis at the molecular level. We also outline other recently described mutations of the androgen receptor gene (Xq11-12) which have been associated with AIS." @default.
- W1976263007 created "2016-06-24" @default.
- W1976263007 creator A5004349152 @default.
- W1976263007 creator A5011331486 @default.
- W1976263007 creator A5028884962 @default.
- W1976263007 creator A5053631131 @default.
- W1976263007 creator A5067459521 @default.
- W1976263007 creator A5085724062 @default.
- W1976263007 date "2002-01-01" @default.
- W1976263007 modified "2023-10-06" @default.
- W1976263007 title "Characterization of a novel receptor mutation A↷T at exon 4 in complete androgen insensitivity syndrome and a carrier sibling via bidirectional polymorphism sequence analysis" @default.
- W1976263007 doi "https://doi.org/10.3892/ijmm.9.1.45" @default.
- W1976263007 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/11744994" @default.
- W1976263007 hasPublicationYear "2002" @default.
- W1976263007 type Work @default.
- W1976263007 sameAs 1976263007 @default.
- W1976263007 citedByCount "1" @default.
- W1976263007 crossrefType "journal-article" @default.
- W1976263007 hasAuthorship W1976263007A5004349152 @default.
- W1976263007 hasAuthorship W1976263007A5011331486 @default.
- W1976263007 hasAuthorship W1976263007A5028884962 @default.
- W1976263007 hasAuthorship W1976263007A5053631131 @default.
- W1976263007 hasAuthorship W1976263007A5067459521 @default.
- W1976263007 hasAuthorship W1976263007A5085724062 @default.
- W1976263007 hasConcept C104317684 @default.
- W1976263007 hasConcept C121608353 @default.
- W1976263007 hasConcept C126322002 @default.
- W1976263007 hasConcept C134018914 @default.
- W1976263007 hasConcept C188997412 @default.
- W1976263007 hasConcept C2777768709 @default.
- W1976263007 hasConcept C2777911890 @default.
- W1976263007 hasConcept C2778952551 @default.
- W1976263007 hasConcept C2780192828 @default.
- W1976263007 hasConcept C36823959 @default.
- W1976263007 hasConcept C501734568 @default.
- W1976263007 hasConcept C54355233 @default.
- W1976263007 hasConcept C61367390 @default.
- W1976263007 hasConcept C71315377 @default.
- W1976263007 hasConcept C71924100 @default.
- W1976263007 hasConcept C86803240 @default.
- W1976263007 hasConceptScore W1976263007C104317684 @default.
- W1976263007 hasConceptScore W1976263007C121608353 @default.
- W1976263007 hasConceptScore W1976263007C126322002 @default.
- W1976263007 hasConceptScore W1976263007C134018914 @default.
- W1976263007 hasConceptScore W1976263007C188997412 @default.
- W1976263007 hasConceptScore W1976263007C2777768709 @default.
- W1976263007 hasConceptScore W1976263007C2777911890 @default.
- W1976263007 hasConceptScore W1976263007C2778952551 @default.
- W1976263007 hasConceptScore W1976263007C2780192828 @default.
- W1976263007 hasConceptScore W1976263007C36823959 @default.
- W1976263007 hasConceptScore W1976263007C501734568 @default.
- W1976263007 hasConceptScore W1976263007C54355233 @default.
- W1976263007 hasConceptScore W1976263007C61367390 @default.
- W1976263007 hasConceptScore W1976263007C71315377 @default.
- W1976263007 hasConceptScore W1976263007C71924100 @default.
- W1976263007 hasConceptScore W1976263007C86803240 @default.
- W1976263007 hasLocation W19762630071 @default.
- W1976263007 hasLocation W19762630072 @default.
- W1976263007 hasOpenAccess W1976263007 @default.
- W1976263007 hasPrimaryLocation W19762630071 @default.
- W1976263007 hasRelatedWork W1163362658 @default.
- W1976263007 hasRelatedWork W1968056809 @default.
- W1976263007 hasRelatedWork W2009735357 @default.
- W1976263007 hasRelatedWork W2016735498 @default.
- W1976263007 hasRelatedWork W2016845185 @default.
- W1976263007 hasRelatedWork W2017294750 @default.
- W1976263007 hasRelatedWork W2030578081 @default.
- W1976263007 hasRelatedWork W2069117047 @default.
- W1976263007 hasRelatedWork W2082296547 @default.
- W1976263007 hasRelatedWork W2090853045 @default.
- W1976263007 hasRelatedWork W2108073002 @default.
- W1976263007 hasRelatedWork W2130442401 @default.
- W1976263007 hasRelatedWork W2135064152 @default.
- W1976263007 hasRelatedWork W2230483183 @default.
- W1976263007 hasRelatedWork W2555751997 @default.
- W1976263007 hasRelatedWork W2622261791 @default.
- W1976263007 hasRelatedWork W2740690257 @default.
- W1976263007 hasRelatedWork W3013417433 @default.
- W1976263007 hasRelatedWork W305450777 @default.
- W1976263007 hasRelatedWork W3209773119 @default.
- W1976263007 isParatext "false" @default.
- W1976263007 isRetracted "false" @default.
- W1976263007 magId "1976263007" @default.
- W1976263007 workType "article" @default.