Complete androgen insensitivity syndrome
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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Three siblings with complete androgen insensitivity syndrome
... lack of secondary sexual hair, her female phenotype and the sonar findings, in combination with testosterone levels in the high normal male range, the diagnosis was most likely to be that of complete ...
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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
... Rokitansky-Küster-Hauser Syndrome (MRKHS) and Complete Androgen Insensitivity Syndrome (CAIS), two syndromes belonging to the field of “disorders of sex ...
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Original Article Identification of novel single nucleotide polymorphisms in androgen receptor gene in two families with complete androgen insensitivity syndrome
... in androgen receptor (AR) gene associated with complete androgen insensitivity syndrome ...(showing complete AIS) carried the same SNP in the AR ...
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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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... in androgen action and can be subdivided into three broad pheno- types: Complete androgen insensitivity syndrome (CAIS), with typical female external genitalia, partial androgen ...
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Novel Missense Mutation in Ligand-Binding Domain of AR Gene Identified in Patient with Androgen Insensitivity Syndrome from Ukraine
... with Complete Androgen Insensitivity Syndrome (CAIS) to a wide range of ambiguous, undervirilized genitalia in patients with Partial Androgen Insensitivity Syndrome ...the ...
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Androgen insensitivity revealed by surgery in elderly identical twins
... having complete androgen insensitivity syndrome. Androgen insensitivity syndrome, also referred to as testicular feminization, is an X-chromosome-linked genetic condition ...
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Histopathological spectrum of disorders of sexual development: a case series of seven cases
... Complete androgen insensitivity syndrome (AIS), also known as testicular feminization, is the most frequent cause of male ...of androgen receptor (AR), because of which T and DHT are ...
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Challenges in clinical and laboratory diagnosis of androgen insensitivity syndrome: a case report
... either complete or partial androgen insensitivity ...with complete androgen insensitivity syndrome, misdiagnosed at birth, and consequently our patient was raised both ...
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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
... a complete absence of nuclear staining of neoplastic cells in the pres- ence of an unquestionable internal positive control rep- resented by normal epithelial cells, stromal cells, muscle cells, or ...
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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
... include complete androgen insensitivity in 46,XY individuals with female genitalia and partial androgen insensitivity in 46,XY individuals with male phenotype, except for perineoscrotal ...
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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 ...The complete form of androgen insensitivity ...
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Clinical, hormonal and genetic characteristics of androgen insensitivity syndrome in 39 Chinese patients
... Cases C1 and C2, carrying the c.2107 T > C (p. Ser703- Pro) mutation, came from the same family. Their muta- tions were inherited from their mother and exhibited pathogenic potential according to PolyPhen-2 analysis. ...
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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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Fear of devaluation : understanding the experience of intersexed women with androgen insensitivity syndrome
... All but one talked about secrecy within their MEDICAL MANAGEMENT which included a range of limited information giving, omission of information, and explicit directions to other professionals to keep the diagnosis from ...
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Androgen Insensitivity Syndrome: Drawbacks of the Medical Services
... puberty. Androgen Insensitivity syndrome (AIS), the largest single entity which is a rare sex-linked recessive inheritance formerly referred to as Testicular Feminization Syndrome (TFS) or ...
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Primary growth hormone insensitivity (Laron syndrome) and acquired hypothyroidism: a case report
... At the age of three and a half years, she underwent an endocrine evaluation in a pediatric center. Her baseline serum GH levels were 6 ng/mL and peaked at 8.5 ng/ mL during a clonidine test (150 mg/m 2 , orally). Her ...
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STATINS IN POLYCYSTIC OVARY SYNDROME
... Polycystic ovary syndrome (PCOS) is the most common endocrine disorder in women. PCOS varies from a mild menstrual disorder to severe disturbance of reproductive and metabolic functions. Statins, ...
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Complete testicular feminization caused by an amino terminal truncation of the androgen receptor with downstream initiation
... causing androgen resistance in two 46,XY siblings with complete testicular ...immunoreactive androgen receptor (AR) was detected in immunoblots using anti-NH2- terminal antibodies, suggesting an ...
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