Androgen Insensitivity
Fear of devaluation : understanding the experience of intersexed women with androgen insensitivity syndrome
... Fear of devaluation: Understanding the experience of intersexed women with Androgen Insensitivity Syndrome Androgen Insensitivity Syndrome AIS is one of a group of intersex states where [r] ...
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Androgen insensitivity revealed by surgery in elderly identical twins
... complete androgen insensitivity syndrome. Androgen insensitivity syndrome, also referred to as testicular feminization, is an X-chromosome-linked genetic condition in which the tissues of a ...
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Clinical, hormonal and genetic characteristics of androgen insensitivity syndrome in 39 Chinese patients
... Informed parental consent, patient consent and approval from the Hospital Ethics Committee were obtained be- fore initiating the study. Thirty-nine patients with AIS, including 4 subjects from 2 families, were recruited ...
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Original Article Identification of novel single nucleotide polymorphisms in androgen receptor gene in two families with complete androgen insensitivity syndrome
... Abstract: The present study aimed to identify novel mutations in androgen receptor (AR) gene associated with complete androgen insensitivity syndrome (AIS). Genome DNA was extracted from peripheral ...
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Diagnosing and Managing Androgen Insensitivity Syndrome
... Introduction: Androgen insensitivity syndrome is a rare congenital abnor- mality of genital organs revealing a female phenotype in a person with XY ...Conclusion: Androgen in- sensitivity syndrome is ...
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Severe forms of partial androgen insensitivity syndrome due to p L830F novel mutation in androgen receptor gene in a Brazilian family
... complete androgen insensitivity in 46,XY individuals with female genitalia and partial androgen insensitivity in 46,XY individuals with male phenotype, except for perineoscrotal hypospa- dias, ...
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Bringing up an XY Girl: Parents' Experience of Having a Child with Androgen Insensitivity Syndrome
... Androgen insensitivity syndrome (AIS) is a rare intersex condition which causes us to question our traditional views of gender as being distinctly male or female. P[r] ...
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Case Report Concurrent bilateral testicular hamartomas and serous borderline tumors in a patient with complete androgen insensitivity syndrome: a case report and review of the literature
... Complete androgen insensitivity syndrome (CAIS) is a rare condition of male pseudoher- maphroditism in patients with XY karyotype but with female ...
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Challenges in clinical and laboratory diagnosis of androgen insensitivity syndrome: a case report
... partial androgen insensitivity ...complete androgen insensitivity syndrome, misdiagnosed at birth, and consequently our patient was raised both socially and educationally as a ...for ...
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Androgen Insensitivity Syndrome: Drawbacks of the Medical Services
... Mild Androgen Insensitivity Syndrome) with male sexual dysfunction, infertility and gynaecomastia, their sex of rearing was as women and their phenotypic presentations was like women although in retrospect ...
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Three siblings with complete androgen insensitivity syndrome
... A 27-year old woman presented with primary amenorrhoea and infertility. On examination, she was found to have palpable inguinal gonads, normal female external genitalia, a blind-ending vagina with no cervix, almost ...
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Whole exome sequencing and single nucleotide polymorphism array analyses to identify germline alterations in genes associated with testosterone metabolism in a patient with androgen insensitivity syndrome and early-onset colorectal cancer
... to androgen insensitivity syndrome ...the androgen recep- tor (AR) gene, but as clearly stated by Gottlieb et ...the androgen receptor, which is a transcription factor and a member of the ...
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Case report of whole genome sequencing in the XY female: identification of a novel SRY mutation and revision of a misdiagnosis of androgen insensitivity syndrome
... the androgen receptor ( AR ) gene abolishing the actions of testosterone, CGD may be caused by various genetic aberrations leading to failure of testis development and thus testosterone production and ...
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Quality of Life and Psychological Distress in Women with Mayer Rokitansky Küster Hauser Syndrome and Individuals with Complete Androgen Insensitivity Syndrome
... Purpose: This study examines quality of life and psychological distress in individuals with Mayer- Rokitansky-Küster-Hauser Syndrome (MRKHS) and Complete Androgen Insensitivity Syndrome (CAIS), two ...
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Novel Missense Mutation in Ligand-Binding Domain of AR Gene Identified in Patient with Androgen Insensitivity Syndrome from Ukraine
... Complete Androgen Insensitivity Syndrome (CAIS) to a wide range of ambiguous, undervirilized genitalia in patients with Partial Androgen Insensitivity Syndrome ...the Androgen Receptor ...
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46,XY DSD with Female or Ambiguous External Genitalia at Birth due to Androgen Insensitivity Syndrome, 5-Reductase-2 Deficiency, or 17-Hydroxysteroid Dehydrogenase Deficiency: A Review of Quality of Life Outcomes
... by androgen insensitivity syndromes, 5-α reductase-2 deficiency, or 17β- hydroxysteroid dehydrogenase-3 deficiency—reared male or ...of androgen insensitivity syndrome has been the focus of ...
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Do sex differences in CEOAEs and 2D:4D ratios reflect androgen exposure? A study in women with complete androgen insensitivity syndrome
... All women with CAIS had gender identity scores in ranges comparable to reference groups of healthy women, which was assessed with a Gender Questionnaire (Callens et al. submitted; adapted from [36]) with six questions ...
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Partial androgen insensitivity syndrome with Müllerian duct derivatives complicated by a testicular seminoma
... The publisher or other rights-holder may allow further reproduction and re-use of this version - refer to the White Rose Research Online record for this item.. Where records identify the[r] ...
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A novel missense mutation in the amino terminal domain of the human androgen receptor gene in a family with partial androgen insensitivity syndrome causes reduced efficiency of protein translation
... within responsive genes, resulting in hormone regulated tran- scription (1). The receptor shares sequence similarity with other steroid receptors within its three primary functional re- gions: the amino-terminal, DNA ...
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Male Pseudohermaphroditism With Partial Androgen Insensitivity
... Studies in skin fibroblasts showed normal androgen receptor affinity and capacity for.. 5a-dihydrotestosterone (DHT), normal nuclear retention of the receptor-DHT complex, and normal con[r] ...
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