Androgen insensitivity syndrome

Hughes, Ieuan A.; Davies, John Dwyfor; Bunch, Trevor; Pasterski, Vickie; Mastroyannopoulou, Kiki; MacDougall, Jane

doi:10.1016/s0140-6736(12)60071-3

Cited by 441 publications

(384 citation statements)

References 92 publications

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“…This finding, together with other studies on pediatric patients, supports the current practice of postponing prophylactic gonadectomy to an adult age. 1 …”

Section: Discussionmentioning

confidence: 99%

Complete androgen insensitivity syndrome: factors influencing gonadal histology including germ cell pathology

et al. 2014

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Patients with complete androgen insensitivity syndrome are at an increased risk for the development of gonadal germ cell cancer. Residual androgen receptor (AR) activity and abnormal gonadal location may influence the survival of atypical germ cells and the development of other histopathological features. To assess this, we evaluated 37 gonads from 19 patients with complete androgen insensitivity (ranging in age from 3 months to 18 years). Histological abnormalities were examined using hematoxylin and eosin-stained sections and sections stained for POU5F1 and KITLG, markers of early changes in germ cells at risk for malignant transformation. Hamartomatous nodules (HNs), Leydig cell hyperplasia (LCH), decreased germ cells, tubular atrophy and stromal fibrosis were more pronounced as age increased (Po0.001). Expected residual AR activity acted as a positive predictor only for non-malignant germ cell survival in (post)pubertal patients (Po0.05). Immunohistochemical studies indicated that delayed maturation of germ cells was present in three patients, whereas intermediate changes that occurred between delayed maturation and intratubular germ cell neoplasia, designated pre-intratubular germ cell neoplasia, were identified in four cases. Intratubular germ cell neoplasia was observed in one patient. Neither POU5F1 nor KITLG expression was dependent on expected residual AR activity. An independent effect of inguinal versus abdominal position of the gonads was difficult to assess because inguinal gonads were present primarily in the youngest individuals. In conclusion, many histological changes occur increasingly with age. Expected residual AR activity contributes to better survival of the general germ cell population in (post)pubertal age; however, it did not seem to have an important role in the survival of the germ cells at risk for malignant transformation (defined by POU5F1 positivity and KITLG overexpression) in complete androgen insensitivity. Comparison of the high percentage of patients in our study that were carrying germ cells with delayed maturation or pre-intratubular germ cell neoplasia with previously reported cumulative risk of tumor development in adult patients indicates that not all such precursor lesions in complete androgen insensitivity will progress to invasive germ cell cancer.

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“…This finding, together with other studies on pediatric patients, supports the current practice of postponing prophylactic gonadectomy to an adult age. 1 …”

Section: Discussionmentioning

confidence: 99%

Complete androgen insensitivity syndrome: factors influencing gonadal histology including germ cell pathology

et al. 2014

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“…Classically, patients present in adolescence with primary amenorrhea and absence of post-pubertal pubic and axillary hair, but can also be discovered in infancy with inguinal or labial swelling containing testis [95,105]. Although estimations of the risk of developing gonadal malignancies vary, overall the risk before puberty is low in CAIS patients [105,150,151]. In addition, no relationship exists between the timing of performing a gonadectomy and bone mineral density.…”

Section: Xy Dsd With Typical Female External Genitalia At Birthmentioning

confidence: 99%

Gender identity, gender assignment and reassignment in individuals with disorders of sex development: a major of dilemma

Fisher

Ristori

Fanni

et al. 2016

J Endocrinol Invest

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“…Third, prenatally obtained fetal sex information can favor unethical sex selection, if not prohibited by legal obligations. Fourth, NIPT based fetal sex determination can potentially be discordant to ultrasound-or karyotype-based gender determination due to congenital adrenal hyperplasia [48], androgen insensitivity [49] or gonosomal translocations [50]. Apart from these confounding factors, several technical challenges with gonosomal sequencing result in suboptimal SCA-or fetal sex-detection.…”

Section: The Performance Of Niptmentioning

confidence: 99%

Current status of non-invasive prenatal testing (NIPT): genetic counseling, dominant methods and overall performance

Harasim¹,

Rost

Klein³

2016

LaboratoriumsMedizin

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Abstract:The introduction of non-invasive prenatal testing (NIPT) into prenatal care represents a paradigm shift. With the absence of any intervention risk in contrast to invasive diagnostic procedures, NIPT has been widely adopted for the detection of fetal trisomy 13, 18 and 21. Additionally, fetal sex chromosome aneuploidy testing and sex determination are available, but can be compromised by both, medical and legal factors. Available validation studies were predominantly based on patients with a high a priori aneuploidy risk, determined by trimester screening or invasive diagnostics. In this review, we discuss the interpretation of NIPT results in context of patient specific risk constellations, the available performance data and dominant methodical approaches of NIPT including necessary content of genetic counseling.

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Androgen insensitivity syndrome

Cited by 441 publications

References 92 publications

Complete androgen insensitivity syndrome: factors influencing gonadal histology including germ cell pathology

Complete androgen insensitivity syndrome: factors influencing gonadal histology including germ cell pathology

Gender identity, gender assignment and reassignment in individuals with disorders of sex development: a major of dilemma

Current status of non-invasive prenatal testing (NIPT): genetic counseling, dominant methods and overall performance

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