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Common issues
Published in James Barrett, Transsexual and Other Disorders of Gender Identity, 2017
Parents whose child has disclosed a previously unsuspected gender identity disorder are usually more distressed. Mothers, particularly, seem to worry whether they or the child’s father have in some way caused the disorder. The patient’s childhood development is recalled and scrutinised both for early signs of what was to come, and for possible causes. Interestingly, parents seem often to worry greatly about ‘nurture’ factors but rarely to have considered that the problem might be congenital or even genetic. In those few cases where a partial androgen-insensitivity syndrome is detected, simple biology can be cited, and genetic counselling is indicated.
Normal and abnormal development of the genitalia
Published in David M. Luesley, Mark D. Kilby, Obstetrics & Gynaecology, 2016
Rebecca Deans, Sarah M Creighton
Androgen insensitivity syndrome can also occur as a partial form (partial androgen insensitivity syndrome, PAIS) in which some response to androgens occurs. The aetiology of this condition is less well understood, although some cases have a disruption in the androgen receptor gene allowing some function. Presentation is a spectrum from ambiguous genitalia to a normal male phenotype with infertility. For those cases identified in early infancy, assignment of sex of rearing is difficult, with no data concerning outcome. Future sexual function as male or female is unknown, with physical growth of the genitalia being unpredictable and a lack of scientific knowledge about how sexual orientation and gender identity develop. It is likely that both male- and female-type behaviours and gender identity are at least partly pre-programmed by the fetal sex steroid environment, and in PAIS the fetal sex steroid environment is unknown.
New mutation causing androgen insensitivity syndrome – a case report and review of literature
Published in Gynecological Endocrinology, 2019
Marzena Maciejewska-Jeske, Patrycja Rojewska-Madziala, Karolina Broda, Karolina Drabek, Anna Szeliga, Adam Czyzyk, Stanislaw Malinger, Anna Kostrzak, Agnieszka Podfigurna, Gregory Bala, Blazej Meczekalski, Agnieszka Malcher, Maciej Kurpisz
Androgen insensitivity syndrome (AIS), first described by Morris in 1953, is a congenital disorder manifesting as a result of cellular resistance to androgens [1]. The pathogenesis of AIS involves a defect in the androgen receptor gene located on the X chromosome and results in the development of a feminine phenotype in a genetically male (46, XY) individual [2]. Three clinical phenotypes of AIS are observed, relating to the degree of androgen insensitivity: Complete androgen insensitivity syndrome (CAIS) exhibits typical female genitalia, partial androgen insensitivity syndrome (PAIS) is associated with predominantly female or ambiguous genitalia, and mild androgen insensitivity syndrome (MAIS) [2]. PAIS is most often the result of missense mutations in the androgen receptor gene and causes the mildest forms of AIS [3]. In contrast, CAIS manifests as the most complete form of AIS. The female phenotype observed in CAIS is the result of mutations in cellular receptors causing incapacitation and absolute resistance to testosterone and DHT. Primordial testis continues to produce anti-Müllerian hormone, thus suppressing the formation of female internal reproductive organs and leading to primary amenorrhea in adolescence. The lack of androgen stimulation concurrently limits differentiation to proper male external genitalia and virilization [3,4].
The XY Female: Exploring Care for Adolescent Girls with Complete Androgen Insensitivity Syndrome
Published in Comprehensive Child and Adolescent Nursing, 2020
The clinical presentation is dependent on the degree of the insensitivity to the androgens: that is, a partial or a complete inability for cells to respond to the androgens. Therefore, Partial Androgen Insensitivity Syndrome (PAIS) has a much wider phenotype, ranging from the appearance of female external genitalia to a male appearance but with a severe hypospadias or micropenis (Tadokoro-Cuccaro & Hughes, 2014). However, Complete Androgen Insensitivity Syndrome (CAIS)is characterized by a female external phenotype (i.e. looks like a ‘typical’ female on the outside), but has a male XY karyotype with testes which produce age-appropriate normal concentrations of androgens (Hughes et al., 2012)
Complete Androgen Insensitivity in Girls with Inguinal Hernias: A Serendipity Opportunity for Early Diagnosis
Published in Journal of Investigative Surgery, 2021
In AIS, the severity of AR mutation give rise in a variable phenotypic expression of this disorder, and therefore it is classified into complete (CAIS) and partial androgen insensitivity syndrome (PAIS). Mutations in the AR gene are found in > 90% of individuals with CAIS while this holds true for only 40% of PAIS [7]. This low frequency of AR variants in PAIS indicates that there are other factors beyond AR leading to AIS. However, the high frequency of AR variants found in CAIS increases the probability of molecular AIS diagnosis only by AR sequencing.