Articles with "androgen insensitivity" as a keyword



Complete Androgen Insensitivity Syndrome Presenting as Inguinal Hernia—a Diagnostic Dilemma

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Published in 2020 at "Indian Journal of Surgery"

DOI: 10.1007/s12262-020-02456-9

Abstract: Inguinal hernia is the most common type of groin hernia in females. In comparison, complete androgen insensitivity syndrome (CAIS) is a rare genetic disease that can present with an inguinal swelling containing testis in a… read more here.

Keywords: hernia; complete androgen; inguinal hernia; androgen insensitivity ... See more keywords

Sexual health in adult women with complete androgen insensitivity syndrome: a single centre cross-sectional study

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Published in 2025 at "Journal of Endocrinological Investigation"

DOI: 10.1007/s40618-025-02592-7

Abstract: We aimed to assess sexual health and body uneasiness in patients with complete androgen insensitivity syndrome (CAIS) using validated questionnaires, since literature is limited and heterogeneous. Single-center, cross-sectional study on 34 adults with 46, XY… read more here.

Keywords: androgen insensitivity; insensitivity syndrome; complete androgen; sexual health ... See more keywords
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Case Report: a Novel Nonsense Mutation in the Androgen Receptor Gene Causing the Complete Androgen Insensitivity Syndrome

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Published in 2022 at "Reproductive Sciences"

DOI: 10.1007/s43032-022-00944-9

Abstract: Androgen insensitivity syndrome (AIS) is a rare X-linked genetic disorder caused by mutations in the androgen receptor (AR) gene. AIS can be divided into partial type (PAIS), mild type (MAIS), and complete type (CAIS) based… read more here.

Keywords: insensitivity syndrome; gene; androgen insensitivity; androgen ... See more keywords

Increased psychiatric morbidity in women with complete androgen insensitivity syndrome or complete gonadal dysgenesis.

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Published in 2017 at "Journal of psychosomatic research"

DOI: 10.1016/j.jpsychores.2017.08.009

Abstract: OBJECTIVE Knowledge concerning mental health outcomes is important to optimize the health of individuals with disorders or differences of sex development (DSD). Thus, the aim of this study was to estimate if the prevalence of… read more here.

Keywords: psychiatric morbidity; complete androgen; complete gonadal; morbidity ... See more keywords
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Molecular basis of androgen insensitivity syndromes

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Published in 2021 at "Molecular and Cellular Endocrinology"

DOI: 10.1016/j.mce.2020.111146

Abstract: Individuals with complete androgen insensitivity syndrome show a female genita phenotype despite 46,XY gonosomes and the presence of androgen producing testes. This clinical observation indicates the resistance of the body and its cells to androgens… read more here.

Keywords: androgen; androgen insensitivity; insensitivity syndrome; gene ... See more keywords

Cognitive abilities in women with complete androgen insensitivity syndrome and women with gonadal dysgenesis

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Published in 2018 at "Psychoneuroendocrinology"

DOI: 10.1016/j.psyneuen.2018.05.003

Abstract: BACKGROUND Many questions regarding the mechanisms behind sex differences in cognitive abilities are still unanswered. On a group level, men typically outperform women on certain spatial tasks, whereas women perform better on certain tests of… read more here.

Keywords: gonadal dysgenesis; cognitive abilities; sex; complete androgen ... See more keywords

Analysis of genetic and clinical characteristics of androgen insensitivity syndrome: a cohort study including 12 families.

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Published in 2024 at "European journal of endocrinology"

DOI: 10.1093/ejendo/lvae082

Abstract: CONTEXT Androgen insensitivity syndrome (AIS) manifests itself as variable symptoms of under-virilization in patients with 46, XY disorders caused by androgen receptor (AR) gene variants. This large-sample study aimed to correlate the genotypes and phenotypes… read more here.

Keywords: androgen insensitivity; clinical characteristics; insensitivity syndrome; genetic clinical ... See more keywords
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FDG PET/CT Image of Seminoma in Androgen Insensitivity Syndrome.

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Published in 2017 at "Clinical Nuclear Medicine"

DOI: 10.1097/rlu.0000000000001722

Abstract: We report the FDG PET/CT findings of seminoma in a 21-year-old woman with androgen insensitivity syndrome. PET images showed focal FDG uptake in the left pelvic sidewall, and a hypodense lesion with calcifications was noted… read more here.

Keywords: androgen insensitivity; insensitivity syndrome; pet image; fdg pet ... See more keywords

An Early Case of Complete Androgen Insensitivity Syndrome

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Published in 2023 at "Journal of Investigative Medicine High Impact Case Reports"

DOI: 10.1177/23247096231157918

Abstract: Inguinal hernias are rare in female infants, and when present, there is an increased incidence of androgen insensitivity in these infants. We present a case of bilateral inguinal hernias in a 26-day-old full-term phenotypic female.… read more here.

Keywords: insensitivity syndrome; inguinal hernias; androgen insensitivity; case ... See more keywords

OR27-07 Molecular Mechanism of Androgen Receptor Mutation in Multigenerational Mild Androgen Insensitivity Syndrome

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Published in 2025 at "Journal of the Endocrine Society"

DOI: 10.1210/jendso/bvaf149.1961

Abstract: Abstract Disclosure: R. Chang: None. R. Pandher: None. D. Hibbs: None. J. Du: None. K. McGrath: None. A. Heather: None. V. Jayadev: None. D.J. Handelsman: None. Objective Androgen insensitivity syndrome (AIS) due to androgen receptor… read more here.

Keywords: androgen insensitivity; none; molecular mechanism; mutation ... See more keywords

MON-193 Androgen Insensitivity Syndrome: A Tale of Two Tails

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Published in 2019 at "Journal of the Endocrine Society"

DOI: 10.1210/js.2019-mon-193

Abstract: Abstract Introduction: In 1953, the term testicular feminization syndrome was introduced in a cohort of male pseudohermaphrodites. Since its first report, a better understanding of this disorder of sex development (DSD) has been described. Complete… read more here.

Keywords: androgen insensitivity; gender; mon 193; insensitivity syndrome ... See more keywords