Androgen insensitivity syndrome: a review
Archives of Endocrinology and MetabolismAndrogenic insensitivity syndrome is the most common cause of disorders of sexual differentiation in 46,XY individuals. It results from alterations in the androgen receptor gene, leading to a frame of hormonal resistance, which may present clinically ...
Rafael Loch Batista +8 more
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Androgen insensitivity syndrome: preventive gonadectomy, pros and cons
Ожирение и метаболизмAndrogen insensitivity syndrome is a genetic disorder characterized by complete or partial androgen insensitivity in individuals with a 46XY genotype.
E. A. Starostina +5 more
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Partial androgen insensitivity syndrome [PDF]
Definitions, 2020 Androgen insensitivity syndrome (AIS) present at several differentiation from genetic defects to end organ resistance thereby producing gender dilema dispelled by sex hormones signature.It is quite traumatic for the patients and family of the affected ...
INSERM
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Journal of Clinical Research in Pediatric EndocrinologyThis patient, now in her 40s, was evaluated because of genital ambiguity and diagnosed with pAIS in infancy based upon elevated testosterone and gonadotropin levels and significantly reduced binding affinity of the androgen receptor. Such reduced binding
Peter A. Lee
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SUN-038 Social and Psychological Aspects of Partial Androgen Insensitivity Syndrome, Therapeutic Challenges [PDF]
Journal of the Endocrine Society, 2020 Background: Partial Androgen Insensitivity Syndrome (PAIS) is a rare congenital condition with incongruence of chromosomal, gonadal and phenotypic sex and classified as differences of sex development.
Faryal T Masood, Zareen Kiran
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Complete androgen insensitivity syndrome [PDF]
Srpski Arhiv za Celokupno Lekarstvo, 2015 Introduction. Androgen insensitivity syndrome (AIS) belongs to disorders of sex development, resulting from complete or partial resistance to the biological actions of androgens in persons who are genetically males (XY) with normally developed ...
Tančić-Gajić Milina +6 more
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Surface Rendering of External Genitalia of a Fetus at the 32nd Week of Gestation Affected by Partial Androgen Insensitivity Syndrome [PDF]
Case Reports in Obstetrics and Gynecology, 2013 Objectives. To demonstrate the feasibility of the prenatal diagnosis of partial androgen insensitivity syndrome by 3D-4D ultrasound. Methods. To report prenatal diagnosis of partial androgen insensitivity syndrome at 32nd week of gestation by 3D-4D ...
Vincenzo Mazza +7 more
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Gonadal Tissue Cryopreservation for a Girl With Partial Androgen Insensitivity Syndrome [PDF]
Journal of the Endocrine Society, 2019 Individuals with differences/disorders of sex development (DSD) have increased rates of infertility. For children and youth undergoing prophylactic gonadectomy for malignancy risk, our institution offers gonadal tissue cryopreservation, an experimental ...
Esther L. Finney +8 more
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Predicting puberty in partial androgen insensitivity syndrome: Use of clinical and functional androgen receptor indicesResearch in context [PDF]
EBioMedicine, 2018 Background: PAIS exhibits a complex spectrum of phenotypes and pubertal outcomes. The paucity of reliable prognostic indicators can confound management decisions including sex-of-rearing.
Ngee Lek +11 more
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Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene [PDF]
Scientific Reports, 2018 Although partial androgen insensitivity syndrome (PAIS) is caused by attenuated responsiveness to androgens, androgen receptor gene (AR) mutations on the coding regions and their splice sites have been identified only in A).
Hiroyuki Ono +9 more
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