Pure seminoma in the setting of androgen insensitivity syndrome treated with surgical resection and para-aortic radiation: A case report and review of literature

Herman, Michael; Wernicke, G.; Yan, Weisi; Nori, Dattatreyudu; Parashar, Bhupesh

doi:10.4103/0973-1482.73337

Cited by 8 publications

(3 citation statements)

References 6 publications

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“…Here, patients with cAIS had the highest risk for malignant transformation of gonads (30%) compared to patients with pAIS with 16.7%. Yet, this could be also due to the rather old patient collective [ 31 ], as the risk of gonadal malignant transformation is lower in patients with AIS before puberty compared to patients with other DSD [ 16 ] and this risk might increase after adolescence [ 7 , 13 ]. In our patient cohort mean age of all patients at gonadectomy was 14.5 years; in the group of four patients with relevant pathological findings it was 25.5 years.…”

Section: Discussionmentioning

confidence: 99%

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Malignant Germ Cell Tumors and Their Precursor Gonadal Lesions in Patients with XY-DSD: A Case Series and Review of the Literature

Steinmacher

Brucker

Kölle

et al. 2021

IJERPH

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The risk of gonadal germ cell tumors is increased over the lifetime of patients with XY-disorders of sex development (XY-DSD). The aim of this study was to evaluate clinical features and histopathological outcome after gonadectomy in patients with XY-DSD to assess the risk of malignant transformation to gonadal germ cell tumors. Thirty-five women treated for XY-DSD at our hospital between 2003 and 2020 were enrolled in this study. Twenty-seven (77%) underwent prophylactic gonadectomy, 10 (29%) at our department and 17 (48%) at external hospitals. Eight (23%) patients didn´t receive gonadectomy. Of the patients who underwent a surgical procedure at our hospital, two patients were diagnosed with a unilateral seminoma, one patient with a bilateral and one patient with a unilateral Sertoli cell adenoma. According to these findings, preventive gonadectomy in patients with XY-DSD should be taken into consideration. Guidelines concerning the necessity of gonadectomy to avoid malignant transformation are still lacking. The risk of malignant germ cell tumors from rudimentary gonads has not been investigated sufficiently to date, as it is mostly based on case series due to the rarity of the condition. In our study we retrospectively analyzed patients who partly underwent bilateral gonadectomy, aiming to fill this gap. Concerning the ideal point of time for gonadectomy, further studies with a higher number of patients are needed.

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Section: Discussionmentioning

confidence: 99%

“…The risk of malignant transformation in cAIS increases with age and rarely occurs before puberty [ 15 , 16 ].…”

Section: Introductionmentioning

confidence: 99%

Malignant Germ Cell Tumors and Their Precursor Gonadal Lesions in Patients with XY-DSD: A Case Series and Review of the Literature

Steinmacher

Brucker

Kölle

et al. 2021

IJERPH

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“…Data from the literature review report a general risk of approximately 5% in AIS disorder overall and a prevalence of <1% in CAIS [72,73]. In addition, the risk of malignant progression is elevated only with increased age [74,75]; indeed, it rarely occurs in prepubertal age (less than 1%), in contrast with other DSD, including PAIS [72,76]. In the general population, GCNIS advances into invasive cancer in approximately 50% of cases over five years [77], while the majority of malignant lesions described in patients with CAIS after puberty were pre-GCNIS or GCNIS, with a low likelihood of becoming invasive [68,71,78,79,80,81].…”

Section: Time Of Gonadectomy and Risk Of Malignancymentioning

confidence: 99%

Different Clinical Presentations and Management in Complete Androgen Insensitivity Syndrome (CAIS)

Lanciotti

Cofini

Leonardi

et al. 2019

IJERPH

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Complete androgen insensitivity syndrome (CAIS) is an X-linked recessive genetic disorder resulting from maternally inherited or de novo mutations involving the androgen receptor gene, situated in the Xq11-q12 region. The diagnosis is based on the presence of female external genitalia in a 46, XY human individual, with normally developed but undescended testes and complete unresponsiveness of target tissues to androgens. Subsequently, pelvic ultrasound or magnetic resonance imaging (MRI) could be helpful in confirming the absence of Mullerian structures, revealing the presence of a blind-ending vagina and identifying testes. CAIS management still represents a unique challenge throughout childhood and adolescence, particularly regarding timing of gonadectomy, type of hormonal therapy, and psychological concerns. Indeed this condition is associated with an increased risk of testicular germ cell tumour (TGCT), although TGCT results less frequently than in other disorders of sex development (DSD). Furthermore, the majority of detected tumoral lesions are non-invasive and with a low probability of progression into aggressive forms. Therefore, histological, epidemiological, and prognostic features of testicular cancer in CAIS allow postponing of the gonadectomy until after pubertal age in order to guarantee the initial spontaneous pubertal development and avoid the necessity of hormonal replacement therapy (HRT) induction. However, HRT is necessary after gonadectomy in order to prevent symptoms of hypoestrogenism and to maintain secondary sexual features. This article presents differential clinical presentations and management in patients with CAIS to emphasize the continued importance of standardizing the clinical and surgical approach to this disorder.

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Primary gonadal failure

Ladjouze

Donaldson

2019

Best Practice & Research Clinical Endocrinology & Metab

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Pure seminoma in the setting of androgen insensitivity syndrome treated with surgical resection and para-aortic radiation: A case report and review of literature

Cited by 8 publications

References 6 publications

Malignant Germ Cell Tumors and Their Precursor Gonadal Lesions in Patients with XY-DSD: A Case Series and Review of the Literature

Malignant Germ Cell Tumors and Their Precursor Gonadal Lesions in Patients with XY-DSD: A Case Series and Review of the Literature

Different Clinical Presentations and Management in Complete Androgen Insensitivity Syndrome (CAIS)

Primary gonadal failure

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