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About 573 results

ALLMedicine™ Androgen Insensitivity Syndrome Center

Research & Reviews  217 results

Persistence of foetal testicular features in patients with defective androgen signalling.
https://doi.org/10.1093/ejendo/lvad007
European Journal of Endocrinology; Al-Sharkawi M, Calonga-Solís V et. al.

Feb 2nd, 2023 - Congenital defects of androgen synthesis or action in 46, XY individuals can result in impaired virilisation, despite the apparent testicular development. In a recent case report of a young adult with complete androgen insensitivity syndrome (CAIS...

Novel pathogenic variants in the androgen receptor gene associated with androgen insens...
https://doi.org/10.1016/j.gene.2023.147225
Gene Li C, Wang X et. al.

Jan 29th, 2023 - Androgen insensitivity syndrome (AIS) is a common disorder/differences of sex development with a 46, XY karyotype, but diverse genital phenotypes. Various pathogenic variants within the androgen receptor (AR) gene on the X chromosome are the prima...

Abdominal Mass in a Phenotypic Female with 46,XY Differences in Sex Development.
https://doi.org/10.1016/j.urology.2022.11.039
Urology Alam R, Gabrielson AT et. al.

Dec 23rd, 2022 - We present a case of a large intra-abdominal mass found to be localized pure seminoma within a retained gonad of a 53-year-old phenotypic female with 46,XY differences in sex development (DSD) and androgen insensitivity syndrome (AIS). Our managem...

Androgen Receptor, Implications for Health and Wellbeing: Natural History Study of Individuals With Androgen Insensitivity
https://clinicaltrials.gov/ct2/show/NCT04708431

Nov 1st, 2022 - Androgen effects in humans are usually (but not always) mediated by the androgen receptor which is coded for by the androgen receptor gene (AR gene). Individuals with abnormalities of this receptor gene can present with androgen insensitivity synd...

Cohort profile: pathways to care among people with disorders of sex development (DSD).
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9494584
BMJ Open; Goodman M, Yacoub R et. al.

Sep 22nd, 2022 - The 'DSD Pathways' study was initiated to assess health status and patterns of care among people enrolled in large integrated healthcare systems and diagnosed with conditions comprising the broad category of disorders (differences) of sex developm...

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Guidelines  1 results

Pubertal induction and transition to adult sex hormone replacement in patients with con...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9066594
European Journal of Endocrinology; Nordenström A, Ahmed SF et. al.

Mar 31st, 2022 - An Endo-European Reference Network guideline initiative was launched including 16 clinicians experienced in endocrinology, pediatric and adult and 2 patient representatives. The guideline was endorsed by the European Society for Pediatric Endocrin...

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Clinicaltrials.gov  2 results

Androgen Receptor, Implications for Health and Wellbeing: Natural History Study of Individuals With Androgen Insensitivity
https://clinicaltrials.gov/ct2/show/NCT04708431

Nov 1st, 2022 - Androgen effects in humans are usually (but not always) mediated by the androgen receptor which is coded for by the androgen receptor gene (AR gene). Individuals with abnormalities of this receptor gene can present with androgen insensitivity synd...

Testosterone Treatment in a Patient With 17β-hydroxysteroid Dehydrogenase Type 3 Deficiency: an N-of-1 Study
https://clinicaltrials.gov/ct2/show/NCT04831099

Apr 5th, 2021 - A 38-year old women with a 46,XY disorder of sex development (DSD) based on a 17β-hydroxysteroid dehydrogenase type 3 deficiency (17β-HSD3) was seen at the department of Internal Medicine-Endocrinology at the Erasmus MC, Rotterdam, the Netherlands...

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News  8 results

Estradiol, Testosterone Trigger Dyslipidemia in Women With Complete Androgen Insensitivity
https://www.medscape.com/viewarticle/967853

Feb 3rd, 2022 - This study was published in ResearchSquare.com as a preprint and has not yet been peer reviewed. Key Takeaways Patients with complete androgen insensitivity syndrome (CAIS) developed worsened cholesterol profiles when treated with either estradiol...

Androgen Receptor Deficiency a Risk Factor for Asthma
https://www.medscape.com/viewarticle/949400

Apr 21st, 2021 - (Reuters Health) - People with androgen insensitivity syndrome may be more likely to develop asthma, a new study suggests. Researchers examined data on the prevalence of androgen insensitivity syndrome (AIS) and asthma in medical records for more ...

First US Look at Mental, Physical Health of Intersex Adults
https://www.staging.medscape.com/viewarticle/939264

Oct 16th, 2020 - The first US study of its kind paints a concerning picture of the mental and physical health status of intersex adults. Results of a national survey found that over 60% of intersex respondents, defined as those born with differences in sex traits ...

New View of Dry Eye Stresses Mechanisms Over Manifestations
https://www.staging.medscape.com/viewarticle/879675

May 8th, 2017 - The Tear Film & Ocular Surface Society (TFOS) presented the conclusions and recommendations of the TFOS Dry Eye Workshop II (DEWS II) during a special session of the Association for Research in Vision and Ophthalmology (ARVO) 2017 Annual Meeting i...

Caring for gender-nonconforming youth
https://www.mdedge.com/pediatrics/article/103974/pediatrics/caring-gender-nonconforming-youth
Gayathri Chelvakumar, MD

Oct 29th, 2015 - As a member of a multidisciplinary clinic that cares for gender-nonconforming (GN) youth, I frequently field questions from providers about how to handle gender identity concerns in the primary care setting. The specific health care needs of these.

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Patient Education  1 results see all →