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Childhood Cross-Gender Behavior and Adult Homosexuality
Published in Robin M. Mathy, Jack Drescher, Childhood Gender Nonconformity and the Development of Adult Homosexuality, 2020
However, this favored intellectual pursuit of prenatal sex steroids could turn out to be a chase “a la wild goose.” There is evidence, in the mouse, for the sexually dimorphic pattern of expression of genes in embryonic brain development to be independent of, and occur before, the availability of sex hormones. There may be a direct genetic influence on brain sexual differentiation (Dewing et al., 2003, Arnold, 2002). However, in one clinical example where genes and hormones contradict each other, the complete androgen insensitivity syndrome (AIS), hormonal influences dominate. There the Y chromosome is present but cells are unable to utilize androgen. The result is a female-appearing body, female sexual identity, and usually sexual attraction to males (Wisniewski et al., 2000).
Variation of sex differentiation
Published in Joseph S. Sanfilippo, Eduardo Lara-Torre, Veronica Gomez-Lobo, Sanfilippo's Textbook of Pediatric and Adolescent GynecologySecond Edition, 2019
Anne-Marie Amies Oelschlager, Margarett Shnorhavorian
Androgen insensitivity syndrome: Androgen receptor dysfunction is caused by mutations in the androgen receptor (AR) gene with an incidence of 1:20,000 to 1:64,000 births. Androgen insensitivity syndrome may present as female phenotype in complete androgen insensitivity (CAIS), ambiguous genitalia in partial androgen insensitivity (PAIS), and hypospadias or mild undervirilization in males. Due to AMH production by the testes, the uterus and upper vagina are absent. Given the lack of testosterone effect on the external genitalia, individuals may have typical external female genitalia with CAIS or clitoromegaly and urogenital sinus present with PAIS. Although women with CAIS have testes and levels of testosterone that are higher than the typical male range, they have systemic estrogen through peripheral aromatization of testosterone. Adolescents with CAIS often present with primary amenorrhea. Physical exam reveals typical breast development, vulvar appearance, and fat distribution, but individuals have little to no pubic hair or other signs of adrenarche.15
Genital
Published in A Sahib El-Radhi, James Carroll, Paediatric Symptom Sorter, 2017
A Sahib El-Radhi, James Carroll
In girls with DP and short stature, Turners syndrome should be excluded. Pelvic ultrasound scan and chromosomal analysis should be carried out. Complete androgen insensitivity syndrome should also be considered.
Genetic Analysis Reveals Complete Androgen Insensitivity Syndrome in Female Children Surgically Treated for Inguinal Hernia
Published in Journal of Investigative Surgery, 2021
Nurin A. Listyasari, Gorjana Robevska, Ardy Santosa, Aurore Bouty, AZ Juniarto, Jocelyn van den Bergen, Katie L. Ayers, Andrew H. Sinclair, Sultana MH Faradz
These cases illustrate the complexities associated with complete androgen insensitivity syndrome (CAIS). In particular, we find that female infants diagnosed with inguinal hernia should have further investigation into a possible diagnosis of CAIS, something previously suggested [12]. We also show how a timely diagnosis of CAIS may result in subsequent testing within family. In this report, all of the presenting patients had had inguinal hernias with palpable gonads in childhood but were only diagnosed with CAIS during puberty. Unfortunately, the surgeons who performed the hernia repair did not carry out further investigation of the inguinal hernia, such as ultrasound to evaluate the content of the hernial sac and the Mullerian structures, histological confirmation of the gonads, immunohistochemistry, karyotyping, hormonal analysis, or molecular analysis. General surgeons who are not familiar with the occurrence of CAIS may overlook gonadal features during hernia repair. When performing hernia repair in girls with inguinal hernia, clinicians need to identify atypical gonadal features macroscopically so that further investigation could be carried out [13]. However, the reluctance to do further investigations, may result from a lack of awareness about this condition because of its relatively low prevalence [14,15]. Indeed, in females with a bilateral inguinal hernia the incidence of CAIS is estimated to be 1%–2% [16].
The XY Female: Exploring Care for Adolescent Girls with Complete Androgen Insensitivity Syndrome
Published in Comprehensive Child and Adolescent Nursing, 2020
The 46, XY classification is complex, and usually encompasses diagnoses and presentations of ambiguous or female external genitalia, and either the absence or presence of Mullerian structures (Mendonca, Costa, Belgorosky, Rivarola, & Domenice, 2010). Mullerian structures involve the fallopian tubes, uterus, the cervix, and part of the vagina, whereas the Wolffian structures will develop into the epididymis, the two vas deferens, and the seminal vesicles in the male reproductive system. However, abnormalities of karyotype, formation of gonads, androgen synthesis and androgen action are the principle causes that result in under-virilization—that is, under masculinization of ‘biological’ XY individuals (Massanyi, Dicarlo, Migeon, & Gearhart, 2013). Sometimes, the Wolffian ducts may not form properly in the early stages of embryological development, resulting in a non-endocrine-related picture, and also gonadal dysfunction and hypogonadism can be the result of insufficient testosterone. Disorders of androgen synthesis, such as 5-α-reductase deficiency are found in individuals with female or ambiguous genitalia at birth who later virilize at puberty, which can sometimes lead to a personal decision to change gender (Michala & Creighton, 2010). However, Complete Androgen Insensitivity Syndrome results from androgen receptor dysfunction (Mongan, Tadokoro-Cuccaro, Bunch, & Hughes, 2015), and is the most common condition leading to the presentation of an XY female, with an estimated incidence of 1 in every 40,000–60,000 births (Michala & Creighton, 2010).
POI after chemotherapy and bone marrow transplant may mimic disorders of sexual differentiation – a case report of a patient with primary amenorrhea and 46, XY karyotype
Published in Gynecological Endocrinology, 2020
Jagoda Kruszewska, Sandra Krzywdzińska, Monika Grymowicz, Roman Smolarczyk, Blazej Meczekalski
Complete androgen insensitivity syndrome is a condition, in which testes are developed and their hormonal function is preserved, nevertheless peripheral tissues are resilient to testosterone due to mutation in gene encoding androgen receptor (AR). Absence of testosterone activity, thus the conversion of its excess to estrogens provides the presence of external female phenotype, normal presence of breast development and external genitalia (beside shorter vagina). In such individuals, Müllerian derivatives are not preserved due to the regression of a duct induced by AMH produced by functional gonads. Testes may be situated either in the abdominal cavity or throughout the inguinal canal or in the labia majora. In two recent localizations, they may be palpable and in the canal, they may be the source of the inguinal hernia. Hormonal profile consists of elevated testosterone and detectable estrogen concentrations [8].