Detection of Y‐chromosome in gonadal tumours using fluorescence <i>in situ</i> hybridization: diagnostic value in intersex conditions including older patients with clinically unsuspected androgen insensitivity syndrome

Stewart, Colin J.R.; Baker, Eva H.; Beaton, Ceri; Crook, Maxine L.; Peverall, Joanne; Wallace, Stephen G.

doi:10.1111/j.1365-2559.2007.02927.x

Cited by 19 publications

(24 citation statements)

References 31 publications

(74 reference statements)

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“…Other modes of presentation include a known family history of X-linked complete androgen insensitivity syndrome and, occasionally, the discovery of a pelvic mass arising from a gonadal tumor [7]. No precise figures are available for the prevalence of CAIS, but estimates range from one in 20,400 to one in 99,100 genetic males on the basis of a proven molecular diagnosis [8].…”

Section: Casementioning

confidence: 99%

Complete Androgen Insensitivity Syndrome in Three Generations of Indian Pedigree

Kar

Sivamani

Shankar

et al. 2015

J Obstet Gynecol India

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Background Androgen insensitivity syndrome or testicular feminization syndrome is a rare X-linked recessive disorder, which encompasses a wide range of phenotypes that are caused by numerous different mutations in the androgen receptor gene. Complete androgen insensitivity syndrome occurs when the body cannot use androgens at all. People with this form of the condition have the external sex characteristics of females, but do not have a uterus and therefore do not menstruate and are unable to conceive a child (infertile). Methods In this paper, we report three cases of familial complete androgen insensitivity syndrome who presented with primary amenorrhea. Results Physical examination, ultrasonography studies, and biochemical, karyotype, and molecular cytogenetic analyses were conducted. Based on the findings, they were diagnosed and confirmed as having complete androgen insensitivity syndrome. Conclusion A multidisciplinary team is needed from disclosure of the diagnosis, gender assignment, surgical management, hormonal replacement therapy, to counseling and support.

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Section: Casementioning

confidence: 99%

Complete Androgen Insensitivity Syndrome in Three Generations of Indian Pedigree

Kar

Sivamani

Shankar

et al. 2015

J Obstet Gynecol India

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“…12 Other modes of presentation include a known family history of X-linked complete androgen insensitivity syndrome and, occasion ally, the discovery of a pelvic mass arising from a gonadal tumour. 13 Adult women with complete androgen insensitivity syndrome are generally taller than women without the syndrome, but are on average shorter than the male population. 14 Patients in whom gonadectomy is delayed are even taller, suggesting a relative oestrogen defi ciency before gonadectomy.…”

Section: Clinical Presentationmentioning

confidence: 99%

Androgen Insensitivity Syndrome (AIS)

2016

Encyclopedia of Cancer

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Androgen insensitivity syndrome in its complete form is a disorder of hormone resistance characterised by a female phenotype in an individual with an XY karyotype and testes producing age-appropriate normal concen trations of androgens. Pathogenesis is the result of mutations in the X-linked androgen receptor gene, which encodes for the ligand-activated androgen receptor-a transcription factor and member of the nuclear receptor superfamily. This Seminar describes the clinical manifestations of androgen insensitivity syndrome from infancy to adulthood, reviews the mechanism of androgen action, and shows examples of how mutations of the androgen receptor gene cause the syndrome. Management of androgen insensitivity syndrome should be undertaken by a multidisciplinary team and include gonadectomy to avoid gonad tumours in later life, appropriate sex-hormone replacement at puberty and beyond, and an emphasis on openness in disclosure.

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“…In an earlier study we showed that FISH for the SRY gene was positive in 16/18 paraffin-embedded tissue samples from phenotypic female patients with androgen insensitivity syndrome or gonadal dysgenesis whereas no reaction was seen in 10 patients with sporadic ovarian germ cell or sex cord stromal tumours 2. FISH has the advantage of relative tissue preservation allowing localisation of the signal to the tumour cells.…”

mentioning

confidence: 98%

Detection of Y chromosomal material in ovarian (gonadal) tumours

Stewart

2011

J Clin Pathol

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Detection of Y‐chromosome in gonadal tumours using fluorescence in situ hybridization: diagnostic value in intersex conditions including older patients with clinically unsuspected androgen insensitivity syndrome

Cited by 19 publications

References 31 publications

Complete Androgen Insensitivity Syndrome in Three Generations of Indian Pedigree

Complete Androgen Insensitivity Syndrome in Three Generations of Indian Pedigree

Androgen Insensitivity Syndrome (AIS)

Detection of Y chromosomal material in ovarian (gonadal) tumours

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