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Seminoma arising in androgen insensitivity syndrome (testicular feminization syndrome): A case report
Abstract
Androgen insensitivity (testicular feminization) syndrome is a rare inherited form of male pseudohermaphroditism that occurs in phenotypically normal woman with male karyotype (XY). The undescended testis may go into malignant transformation. The androgen insensitivity syndrome with malignant testicular disorder is very rare. A thirty-one year old female was admitted to the hospital with the complaint of primary amenorrhea. Clinical and laboratory investigation revealed testicular feminization syndrome with seminoma developed from intraabdominal undescended testis. Primary removal of the mass and postoperative radiotherapy were treatment of choice for the patient.
... Androgen insensitivity (testicular feminization) syndrome is a rare inherited form of male pseudohermaphroditism that occurs in a phenotypically normal woman with male karyotype (XY). 1 The first medical report on Androgen insensitivity syndrome (AIS) was published in 1953 by J.M. Morris, an American gynaecologist. The syndrome was designated -testicular feminization syndrome‖ because testes produces hormones with oestrogen like actions. 2 AIS results from an androgen receptor defect. ...
... As a result, there is no fusion of the genital folds to form the scrotum and penis and no posterior migration of the labioscrotal folds. 1 The estimated prevalence of AIS is between 1 in 20,000 and 1 in 99,000 genetic males. AIS is thought to be related to approximately 6-10% of cases of primary amenorrhea. ...
... The probably explanation of the syndrome is the absence of the cytosol androgen binding protein receptor that is normally present in the androgen responsive tissue. [1] As a result, there is no fusion of the genital folds to form the scrotum and penis and no posterior migration of the labioscrotal folds. ...
... We recommend that post-pubertal patients with complete insensitivity should be assessed for possible orchiectomy because of the aggregate risk for testicular malignancy. [1] 31-year-old female with 46XY karyotype with no evidence of mosaicsm…Androgen Insensitivity -right gonadal mass 10x13x8cm revealed seminoma -treated with RT for Stage I -total dose: 2000cGy to pelvic and para-aortic lymphatic in 10 fractions Costopoulos, et al [8] 31-year-old female with complete androgen insensitivity and presumed inguinal hernia on right -histology confirmed testis with evidence of lowgrade seminoma (pT1) and no involvement of the retes testis -no postop RT or chemo was given Chantilis, et al [7] 20 year female with complete androgen resistance -46 XY; underwent prophylactic laparoscopic gonadectomy -left gonad had an occult 8-mm seminoma as well as bilateral Sertoli cell hamartomas -unknown post-op treatments Collins, et al [9] "young woman" with testicular feminization syndrome and developed seminoma in an undescended intrapelvic testis -post op treatment unknown Hurt, et al [10] 14-year-old girl with complete androgen insensitivity syndrome and metastatic seminoma -treated with bilateral adnexectomy, removal of paraaortic lymph nodes, postoperative radiation, and estrogen replacement therapy -"she represents the fourth case of gonadal malignancy to be reported in a teenage patient with androgen insensitivity syndrome" ...
Complete androgen insensitivity is a rare X-linked disorder characterized by a female phenotype in a chromosomally male individual. Malignant transformation of the un-descended testis is a rare phenomena compared to other inter-sex syndromes. This is a case of a 32-year-old female who was diagnosed with androgen insensitivity and presented to the emergency room with pelvic pain. Later the pelvic pain was found to be due to testicular masses, one of which was pure seminoma. We reviewed the literature emphasizing the biochemical and endocrinologic abnormalities leading to the syndrome, as well as the potential for malignant changes of the un-descended testes, diagnosis, and therapeutic management. We discuss the importance of early diagnosis and the consequence associated with misdiagnosis.
... to the patients. It was not an easy undertaking in our situation as sexuality is very much self-contained, not expressed in any form at its highest level from rights perspective and as such difficult to manage as was the case in our patients [9,10,16,24,25]. ...
... Androgen insensitivity syndrome (OMIM# 300068) is a rare X-linked recessive disorder that occurs in phenotypically normal woman with male karyotype (XY), with an incidence of 1:20,000-64,000 male births [1][2][3]. Two forms of AIS are described: complete androgen insensitivity syndrome (CAIS) and partial androgen insensitivity syndrome. CAIS, also known as testicular feminization syndrome, is characterized by female external genitalia, adequate breast development, absence or thinning of pubic and axillary hair, and absence of uterus. ...
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.
... A trial of androgen pharmacotherapy may help improve virilization in infancy. Surveillance includes periodic reevaluation for gynecomastia during puberty in individuals living as males [5,15,16]. We managed the present case with laparoscopic bilateral orchiectomy and estrogen supplementation. ...
Androgen insensitivity syndrome (AIS), also known as testicular feminization, encompasses a wide range of phenotypes that are caused by numerous different mutations in the androgen receptor gene. AIS is an X-linked recessive disorder that is classified as complete, partial, or mild based on the phenotypic presentation. The clinical findings include a female type of external genitalia, 46-XY karyotype, absence of Müllerian structures, presence of Wolffian structures to various degree, and normal to high testosterone and gonadotropin levels. The syndrome is illustrated by a 24-year-old phenotypic female who presented with an inability to conceive, normal-appearing external genitalia, an absent uterus and ovaries, and bilateral testes at the level of the internal inguinal ring. Management includes counseling, gonadectomy to prevent primary malignancy in undescended gonad, and hormone replacement. The karyotyping of family members is advocated because of known familial tendencies.
... The risk of malignancy in AIS is considerably lower before puberty and occurs at a later age than with other intersex disorders. Typically, patients older than 30 year are at greatest risk and the risk of malignancy reaches up to 33% in patients above 50 years of age [10]. Removal of gonads is therefore recommended after puberty once final height and breast development have been achieved. ...
... Androgen insensitivity syndrome (AIS) results from an androgen receptor defect (4). The probable explanation of the syndrome is the absence of the cytosol androgen binding protein receptor that is normally present in the androgen responsive tissue. ...
... The risk of malignancy in AIS is considerably lower before puberty and occurs at a later age than with other intersex disorders. Typically, patients older than 30 year are at greatest risk and the risk of malignancy reaches up to 33% in patients above 50 years of age [10]. Removal of gonads is therefore recommended after puberty once final height and breast development have been achieved. ...
We studied a proband of 23 years female, who had history of primary amenorrhea and was diagnosed with Partial androgen insensitivity syndrome (PAIS), an X-linked disorder caused by mutation in androgen receptor gene. Karyotyping was conducted by analysis of G-banded chromosomes using heparinized peripheral blood sample. The molecular study using PCR for confirmation of the presence of Y chromosome (SRY gene) was performed. Based on the clinical findings, hormonal profile and USG report of the proband, it was confirmed that the proband is diagnosed with PAIS a type of AIS which was further counseled for the better future.
... These patients have male karyotype (XY) and negative sex chromatin. The gonad (undescended testis) may be intraabdominal, inguinal, or labial [1]. The incidence of testicular feminization syndrome is reported to range between one in 2,000 to one in 62,400 [2]. ...
Androgen insensitivity (testicular feminization) syndrome is a rare inherited form of male pseudohermaphroditism that occurs in phenotypically normal women with adequate breast development, normal external genitalia, a vagina of variable depth, absent uterus, and sparse or absent pubic hair and axillary hair. These patients have male karyotype (XY) and negative sex chromatin. The gonad (undescended testis) may be intraabdominal, inguinal, or labial [1]. The incidence of testicular feminization syndrome is reported to range between one in 2,000 to one in 62,400 [2]. The present case is the first one from Jammu and Kashmir State of India where chromosome study has been carried out and 46, XY karyotype has been detected in the phenotypic female.
Androgen insensitivity syndrome (AIS) is described as patient’s clinical (phenotypical) presentation of a female with a male karyotyping. Classically, patients are normal looking female with complaints of primary amenorrhea. The gonads may be found as extra-genital swellings; rarely, the testes may undergo malignant transformation. Thus, gonadectomy is indicated in these patients on attaining puberty.
A rare and interesting case of clinically unsuspected AIS in a young female who presented with primary amenorrhea and inguinal swelling is reported. The initial diagnosis was suggested on Fine needle aspiration cytology (FNAC) from inguinal swelling that showed presence of sertoli cells. Further family history revealed two similar siblings in the family; karyotyping and histopathology confirmed the diagnosis of AIS in the patient. The case highlights the importance of FNAC in early diagnosis and multidisciplinary approach to confirm the diagnosis and help in appropriate management.
A survey of some ovarian abnormalities in 13 Damascus goats with normal to masculinized genitalia, aged 1.5 to 6 years was conducted to determine some types of disorders affecting the ovaries in light of their morphological findings with reference to obstetrics and gynecology literature. The results showed persistent follicles and cystic ovarian disease in phenotypically females, epidermal neoplasms, gonads dysgenesis and dysgenesic gonad tumors in goats with intersex appearance, similar to ovarian tumors in women.
Nine phenotypic female patients with XY karyotype were evaluated through a clinical, cytogenetic, hormonal, endoscopic and histologic diagnostic protocol. Seven patients complained of primary amenorrhea and two patients of abnormal puberal development. The final diagnosis was XY gonadal dysgenesis (n = 5) and testicular feminization syndrome (n = 4). Two patients were less than 155 cm tall, and the remainder were over 155. Minor somatic anomalies were found in two patients with XY gonadal dysgenesis. Patient with testicular feminization syndrome had FSH and LH within the normal range, and patients with XY gonadal dysgenesis had elevated FSH and LH levels. Gonadoblastomas were found in two patients with XY gonadal dysgenesis (one patient with XO/XX/XY mosaicism). Laparoscopy and gonadal biopsy might be useful in some patients to avoid confusion between XY gonadal dysgenesis and testicular feminization syndrome. Early diagnosis of XY gonadal dysgenesis is always desirable, and bilateral gonadectomy is indicated as soon as the diagnosis is made in patients with a Y chromosome and elevated FSH levels. Surgical removal of the gonads from patients with testicular feminization should be delayed until the completion of puberty because of the low risk of malignancy.
Sex cord tumor with annular tubules (SCTAT) is a distinctive neoplasm with indifferent cells of sex cord derivation in a characteristic arrangement of ring-like tubules. Much attention has been drawn to its association with the Peutz-Jeghers syndrome (PJS) with reported occurrence of the tumor in the testis of a boy with PJS. The authors present two cases of the androgen insensitivity syndrome (AIS), one of the cases being distinctive in having a large multicystic tumor resembling the SCTAT in the immature gonad. Additionally, the focal areas of the tumor, the large Sertoli cells lining the tubules, resembled those of a large cell calcifying Sertoli cell tumor (LCCSCT) although no calcific areas were discernible. Although the occurrence of neoplasms like germinomas and tubular adenomas is well known in the AIS, SCTAT has hitherto not been reported in a gonad of the AIS. SCTAT has been placed under an "unclassified sex cord-stromal" category in the World Health Organization (WHO) Classification, yet, opinions are divided as to its origin from a granulosa or Sertoli cell, although an overlap in the histologic features of the two cell categories is to be anticipated in view of their homologous nature. In the case presented, the close resemblance of the tumor cells to the Sertoli cells of the uninvolved gonad would further support the concept of a Sertoli line of differentiation of the SCTAT.
This paper considers malignant testicular tumour formation in 76 phenotypic female patients possessing a Y chromosome. Forty-four patients were considered to belong to the syndrome of androgen insensitivity; 22 belonged to the syndrome of partial androgen insensitivity and 10 to the syndrome of testicular failure. No case of gonadal malignancy was found in the 44 patients with androgen insensitivity and one case of malignancy was found in the 22 with partial androgen insensitivity. Two cases of malignancy occurred in the ten patients with testicular failure. The relevance of these facts to the management of the problem of the female with a Y chromosome is discussed.
To determine whether abnormalities of the androgen receptor previously observed in skin fibroblasts from patients with androgen insensitivity syndrome also occur in the gonads of affected individuals, androgen receptor activity in the gonads of a patient with testicular feminization syndrome was investigated. Using conditions for optimal recovery of androgen receptor from human testes established by previous studies, we detected the presence of a high-affinity (dissociation constant = 3.2 X 10(-10) mol/L), low-capacity (4.2 X 10(-12) mol/mg DNA), androgen-binding protein when tritium-labeled R1881 was incubated at 4 degrees C with nuclear extracts from the gonads of control patients or from a patient with testicular feminization syndrome but not when incubated at 37 degrees C. Thus this patient has an androgen receptor with a temperature lability similar to that of receptors from normal persons.