Investigation of androgen receptor gene mutations in a series of 21 patients with 46,XY disorders of sex development

Abstract

Despite the fact that T/DHT ratio is frequently used in diagnosis of AIS, lack of precisely determined cutoffs compromises correct diagnosis. Hence, depending on clinical and biochemical findings solely may delay correct diagnosis. Direct sequence analysis of the AR is essential for precise diagnosis of AIS.

Intersex Studies: A Systematic Review of International Health Literature

“…The largest number of articles (18) from a repeatedly represented journal came from Narrative Inquiry in Bioethics due to its release of a special issue (Volume 5, Issue 2) focused solely on intersex themes not otherwise typical for that journal (Amanda, 2015; Baratz & Karkazis, 2015;Cynthia, 2015;Davis, 2015b;Frader, 2015;Garcia, 2015;Inter, 2015;Long, 2015;Pagonis, 2015;Petersen, 2015;Quinn, 2015;Simon, 2015;Truffer, 2015;Viloria, 2015;von Klan, 2015;Wall, 2015;Walsh, 2015;Zieselman, 2015). Multiple articles also came from Journal of Pediatric Endocrinology and Metabolism (Brasileiro et al, 2016;Grover et al, 2015;Mutlu et al, 2015;Oliveira et al, 2015;Paula et al, 2015;Topcu et al, 2015), and three articles from International Journal of Pediatric Endocrinology (Grimbly et al, 2016;Lin-Su et al, 2015;Lucas-Herald et al, 2015). Two articles came from Archives of Sexual Behavior (Ediati et al, 2015;Kraus, 2015), BMJ Case Reports (Bonanni et al, 2015;Mannaerts et al, 2015), Endocrine Practice (Khadilkar et al, 2015;Saraswat et al, 2015), Indian Journal of Endocrinology and Metabolism (Kalra et al, 2016;Vasundhera et al, 2016) and PLoS ONE (Camats et al, 2015;Kelsey et al, 2016).…”

“…Several of the studies actually contrasted the group against what they termed "normal" people in terms of anatomy or other traits (Camats et al, 2015). There was a strong focus in sources using DSD nomenclature on the cause of the group's "abnormal" traits (Camats et al, 2015;Kim et al, 2015;Topcu et al, 2015); the need for managing parents' experiences of shock and stigma and aiding their intervention choices for their child rather than patient choice (Achermann et al, 2015;Oliveira et al, 2015); and an assumption of the value and success of early intervention (Paula et al, 2015). A smaller group (four of 61) exclusively used the specific diagnosis or condition in focus only, framing the group in terms of particular condition-based traits and risks (Bonanni et al, 2015;Lin-Su et al, 2015;Lucas-Herald et al, 2015;Palanisamy et al, 2015).…”

“…The sources specifically featured studies from a total of 21 countries. Over half (31) of the studies were based in the United States (Amanda, 2015;Amarillo et al, 2016;Anderson, 2015;Baratz & Karkazis, 2015;Cynthia, 2015;Davis, 2015b;Dreger, 2015;Frader, 2015;Garcia, 2015;Grimes, 2016;Grover et al, 2015;Howard, 2015;Inter, 2015;Kelsey et al, 2016;Kraus, 2015;Lin-Su et al, 2015;Long, 2015;Miller, 2015;Pagonis, 2015;Petersen, 2015;Quinn, 2015;Rubin, 2015;Saraswat et al, 2015;Simon, 2015;Topcu et al, 2015;Truffer, 2015;Viloria, 2015;von Klan, 2015;Wall, 2015;Walsh, 2015;Zieselman, 2015). Four studies were based in India (Kalra et al, 2016;Khadilkar et al, 2015;Palanisamy et al, 2015;Vasundhera et al, 2016), three in Australia (Dwyer et al, 2015;Jones, 2016;Tinney et al, 2015), and three in Brazil (Brasileiro et al, 2016;Oliveira et al, 2015;Paula et al, 2015).…”

“…Institutional expert-centered. Over a third (23) of the sources featured studies with a Traditional Clinical/Medical lens or conceptual framing (Ahmed & Fadl-Elmula, 2016;Amarillo et al, 2016;Bonanni et al, 2015;Brasileiro et al, 2016;Camats et al, 2015;Ceci et al, 2015;Dong et al, 2016;Ediati et al, 2015;Ekenze et al, 2015;Grimbly et al, 2016;Grover et al, 2015;Kelsey et al, 2016;Khadilkar et al, 2015;Kim et al, 2015;Latrech et al, 2015;Lucas-Herald et al, 2015;Mannaerts et al, 2015;Mutlu et al, 2015;Palanisamy et al, 2015;Paula et al, 2015;Rios et al, 2015;Topcu et al, 2015;Vasundhera et al, 2016). This lens privileged a view of people with intersex variations as patients with DSD and consideration of pathology in (usually some combination of any of) their anatomy (Dong et al, 2016), biology (Rios et al, 2015), endocrinology (Mutlu et al, 2015), genealogy (Kim et al, 2015), and/or urology (Ceci et al, 2015).…”

Novel Mutations Segregating with Complete Androgen Insensitivity Syndrome and Their Molecular Characteristics

“…Similar examples have been documented in the existing literature, including both deletions and substitutions in the region of AR exon 1 or further exons encoding the ligand-binding domain. Most of them lead to complete or partial androgen insensitivity depending on the type of mutation [10,11,12,13,14,15]. However, the two presented cases (case No.1 and case No.2) revealed novel mutations that were not previously reported.…”