Seminoma in pubertal patient with androgen insensitivity syndrome

Hurt, W. Glenn; Bodurtha, Joann; McCall, Janice B.; Ali, Mapar Mohammad

doi:10.1016/0002-9378(89)90350-5

Cited by 64 publications

(6 citation statements)

References 4 publications

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“…Whether these girls also have different experiences with their GI and GR development is not known. As reported cases of testicular malignancy do exist for younger girls with CAIS, although rare, it is important to regularly monitor the gonads of these patients with ultrasounds if they are undescended or with a manual exam if they are descended prior to their removal [108]. For people with 5 α -RD2 or 17 β HSD-3 deficiencies who are reared male, leaving the testes in situ impacts psychosexual development by reinforcing masculinity with both a virilizing puberty and maintaining male fertility potential [44, 109].…”

Section: Surgical Influences On Gender In 46xy Dsdmentioning

confidence: 99%

Gender Development in 46,XY DSD: Influences of Chromosomes, Hormones, and Interactions with Parents and Healthcare Professionals

Wisniewski

2012

Scientifica

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Variables that impact gender development in humans are difficult to evaluate. This difficulty exists because it is not usually possible to tease apart biological influences on gender from social variables. People with disorders of sex development, or DSD, provide important opportunities to study gender within individuals for whom biologic components of sex can be discordant with social components of gender. While most studies of gender development in people with 46,XY DSD have historically emphasized the importance of genes and hormones on gender identity and gender role, more recent evidence for a significant role for socialization exists and is considered here. For example, the influence of parents' perceptions of, and reactions to, DSD are considered. Additionally, the impact of treatments for DSD such as receiving gonadal surgeries or genitoplasty to reduce genital ambiguity on the psychological development of people with 46,XY DSD is presented. Finally, the role of multi-disciplinary care including access to peer support for advancing medical, surgical and psychosexual outcomes of children and adults with 46,XY DSD, regardless of sex of rearing, is discussed.

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Section: Surgical Influences On Gender In 46xy Dsdmentioning

confidence: 99%

Gender Development in 46,XY DSD: Influences of Chromosomes, Hormones, and Interactions with Parents and Healthcare Professionals

Wisniewski

2012

Scientifica

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“…Prepubertal girls with CAIS are considered to be at low risk (≈2%) for germ cell tumor formation, as determined by review of 55 patients [23]. However, a seminoma has been reported in a 14-year-old with CAIS [24], and a malignant teratoma has been reported in a second affected child (also 14-years-old) [25]. In general, the risk for developing testicular tumors—including sertoli cell tumors, seminomas, and leydig cell tumors—is thought to increase with age in affected women [26, 27].…”

Section: Androgen Insensitivity Syndromes (Aiss)mentioning

confidence: 99%

46,XY DSD with Female or Ambiguous External Genitalia at Birth due to Androgen Insensitivity Syndrome, 5-Reductase-2 Deficiency, or 17-Hydroxysteroid Dehydrogenase Deficiency: A Review of Quality of Life Outcomes

Wisniewski¹,

Mazur²

2009

International Journal of Pediatric Endocrinology

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Disorders of sex development refer to a collection of congenital conditions in which atypical development of chromosomal, gonadal, or anatomic sex occurs. Studies of 46,XY DSD have focused largely on gender identity, gender role, and sexual orientation. Few studies have focused on other domains, such as physical and mental health, that may contribute to a person's quality of life. The current review focuses on information published since 1955 pertaining to psychological well-being, cognition, general health, fertility, and sexual function in people affected by androgen insensitivity syndromes, 5-alpha reductase-2 deficiency, or 17beta-hydroxysteroid dehydrogenase-3 deficiency-reared male or female. The complete form of androgen insensitivity syndrome has been the focus of the largest number of investigations in domains other than gender. Despite this, all of the conditions included in the current review are under-studied. Realms identified for further study include psychological well-being, cognitive abilities, general health, fertility, and sexual function. Such investigations would not only improve the quality of life for those affected by DSD but may also provide information for improving physical and mental health in the general population.

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“…In another study by Hannema et al [ 24 ], prophylactic gonadectomy was performed in 44 patients with CAIS, revealing carcinoma in situ in two patients only, aged 17 and 53 years, respectively. The youngest reported case of malignant tumor in CAIS was aged 14 years at diagnosis [ 25 ]. With this evidence, the current recommendation supports delaying gonadectomy until postpubertal age to allow spontaneous completion of puberty under the effect of estradiol from peripheral aromatization of testosterone produced by the retained testes.…”

Section: Discussionmentioning

confidence: 99%

A Baby With Complete Androgen Insensitivity Syndrome and the Fortuitous Discovery of 45,X/46,XY Mosaicism

Wong,

Tam

et al. 2023

Cureus

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Disorders of sex development (DSD) are caused by defects in the complex sexual differentiation cascade, resulting in discordance among an individual's genetic, gonadal, and genital sexes. It affects one in 4,500 live births. A wide spectrum of genital phenotypes can be found depending on the underlying pathogenic mechanism and the developmental stage that is affected. We herein report a newborn with female external genitalia but palpable gonads at labia majora with normal testicular function and structure, which is typical of complete androgen insensitivity syndrome (CAIS). The genetic study revealed 45,X/46,XY mosaicism and c.2081A>C missense androgen receptor gene mutation, indicating the likelihood of co-existing CAIS. This case demonstrated the importance of correlating genital phenotype and the underlying pathogenic mechanism, to provide appropriate management of DSD. Important considerations on managing the gonads about the risks of gonadal malignancies are also discussed.

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Seminoma in pubertal patient with androgen insensitivity syndrome

Cited by 64 publications

References 4 publications

Gender Development in 46,XY DSD: Influences of Chromosomes, Hormones, and Interactions with Parents and Healthcare Professionals

Gender Development in 46,XY DSD: Influences of Chromosomes, Hormones, and Interactions with Parents and Healthcare Professionals

46,XY DSD with Female or Ambiguous External Genitalia at Birth due to Androgen Insensitivity Syndrome, 5-Reductase-2 Deficiency, or 17-Hydroxysteroid Dehydrogenase Deficiency: A Review of Quality of Life Outcomes

A Baby With Complete Androgen Insensitivity Syndrome and the Fortuitous Discovery of 45,X/46,XY Mosaicism

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