30 results on '"testicular feminization syndrome"'
Search Results
2. Complete androgen insensitivity syndrome coexisting with müllerian duct remnants: a case report and literature review
- Author
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De-lu Chen, Song Guo, Qiu-li Chen, Shan-jiao Qiu, Yu-ying Xu, Jun Zhang, Hua-mei Ma, and Yan-hong Li
- Subjects
disorder of sexual development ,testicular feminization syndrome ,complete androgen insensitivity syndrome ,Müllerian duct remnants ,Müllerian duct regression ,Pediatrics ,RJ1-570 - Abstract
This study represents the first documentation of the coexistence of complete androgen insensitivity syndrome (CAIS) with Müllerian duct remnants (MDRs) in mainland China. Additionally, we provide a comprehensive review of the existing literature concerning CAIS with MDRs resulting from androgen receptor (AR) gene mutations. This study broadens the clinical spectrum of CAIS and offer novel insights for further exploration into Müllerian duct regression. A 14-year-old patient, initially raised as female, presented to the clinic with complaints of “primary amenorrhea.” Physical examination revealed the following: armpit hair (Tanner stage 2), breast development (Tanner stage 4 with bilateral breast nodule diameter of 7 cm), sparse pubic hair (Tanner stage 3), clitoris measuring 0.8 cm × 0.4 cm, separate urethral and vaginal openings, and absence of palpable masses in the bilateral groin or labia majora. The external genital virilization score was 0 points. Serum follicle-stimulating hormone level was 13.43 IU/L, serum luteinizing hormone level was 31.24 IU/L, and serum testosterone level was 14.95 nmol/L. Pelvic magnetic resonance imaging (MRI) did not reveal a uterus or bilateral fallopian tubes, but nodules on both sides of the pelvic wall indicated cryptorchidism. The karyotype was 46,XY. Genetic testing identified a maternal-derived hemizygous variation c.2359C > T (p.Arg787*) in the AR gene. During abdominal exploration, dysplastic testicles and a dysplastic uterus were discovered. Histopathological analysis revealed the presence of fallopian tube-like structures adjacent to the testicles. The CAIS patient documented in this study exhibited concurrent MDRs, thus expanding the spectrum of clinical manifestations of AIS. A review of prior literature suggests that the incidence of CAIS combined with histologically MDRs is not uncommon. Consequently, the identification of MDRs in AIS cases may represent an integral aspect of clinical diagnosis for this condition. more...
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- 2024
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3. A clinical case of extragastrointestinal tumor in combination with testicular feminization syndrome (Morris syndrome)
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Z. A. Sidakova, A. A. Baranova, A. N. Gritsai, G. D. Efremov, and L. N. Lyubchenko
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gastrointestinal stromal tumor ,extragastrointestinal tumor ,testicular feminization syndrome ,immunohistochemical study ,Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,RC254-282 - Abstract
Background. According to literature data, errors in the diagnosis of gastrointestinal tumors (GIST) are uncommon, accounting for approximately 6% of cases that results in treatment failure. Case report. Here, we describe a rare case of a 58-year-old female patient with extragastrointestinal stromal tumor (EGIST) in the evidence of testicular feminisation syndrome (TFS) – Morris syndrome. This hereditary pathology is associated with complete insensitivity of target organs to androgens and was described in 1953 by the American gynaecologist John Morris. The patient was referred to the cancer clinic, where she was wrongly diagnosed with uterine leiomyoma. Interdisciplinary approach, cancer alarm, active surgical tactics, additional immunohistochemical (IHC) and molecular genetic studies (MGI) allowed verifcation of the true diagnosis. There are reported cases of EGIST of the bladder, prostate, retroperitoneum, mesentery, omentum, and posterior mediastinum. However, we were not able to fnd publications regarding the cases of EGIST originating from the vaginal wall. Combination of TFS and EGIST is a unique case in our clinical practice. Conclusion. The study of rare cases expands the understanding of the molecular pathogenesis of malignancies. Patients with rare types of malignant tumors should be obligatorily examined and treated in specialized cancer clinics with involvement of certifed oncologists, surgeons, chemotherapists, geneticists. more...
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- 2023
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4. Clinical Case of the Complete Form of Androgen Insensitivity Syndrome (AIS)
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M. M. Damirov, I. V. Anchabadze, A. A. Medvedev, and M. A. Eremenko
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androgen insensitivity syndrome ,testicular feminization syndrome ,morris syndrome ,disorder of sex development ,gonadectomy ,hormone replacement therapy ,Medical emergencies. Critical care. Intensive care. First aid ,RC86-88.9 - Abstract
The article presents a clinical observation of an extremely rare in gynecological practice androgen insensitivity syndrome (AIS). The authors give data on the pathogenesis of the disease, modern classification and terminology of various forms of this pathology. The phenotypic manifestations of the disease, the results of clinical and instrumental studies and surgical treatment are described.The results of the study show the possibility of clinical diagnosis of AIS and timely surgical treatment of patients with this pathology, due to the high risk of gonadal malignancy. more...
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- 2023
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5. A clinical case of partial androgen resistance syndrome (Reifenstein syndrome)
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L. K. Dzeranova, E. A. Pigarova, E. V. Ivannikova, L. F. Kurilo, V. B. Chernykh, and A. V. Polyakov
- Subjects
androgen resistance ,reifenstein syndrome ,testicular feminization syndrome ,male sex hormones ,androgen receptor gene ,mutation ,Medicine - Abstract
In the paper we describe a clinical case and provide integrated clinical and laboratory data of a patient with partial androgen resistance syndrome. A 25-year-old male was referred for medical evaluation for an infertile marriage. After a comprehensive assessment, he was diagnosed with hypergonadotropic hypogonadism, coronal hypospadia, left-sided varicocele, and oligoasthenoteratozoospermia. Cytogenetic analysis showed normal male karyotype (46,XY). Molecular genetic analysis identified the c.731_736delCGGTGT mutation in the exon 1 of the androgen receptor (AR) gene, what allowed for making a diagnosis of Reifenstein syndrome. In addition, we give a brief literature review of the clinical conditions associated with abnormal androgen sensitivity and discuss the problems of testing and counseling of patients with partial androgen resistance syndrome. more...
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- 2020
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6. Biology of Male Hermaphrodite and Intersex
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Sharma, Shilpa, Kumar, Anand, Gupta, Devendra K., Kumar, Anand, editor, and Sharma, Mona, editor
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- 2017
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7. Complete androgen insensitivity syndrome: Dilemmas for further management after gonadectomy
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Pratibha Singh, Meenakshi Gothwal, Garima Yadav, and Kuldeep Singh
- Subjects
complete androgen insensitivity syndrome ,hormone replacement therapy ,partial androgen insensitivity syndrome ,testicular feminization syndrome ,Gynecology and obstetrics ,RG1-991 - Abstract
Complete androgen insensitivity syndrome is a rare condition, wherein a genetic male is phenotypically female and is raised as a female. Treatement requires timely gonadectomy, need for long term hormonal replaceent therapy, psycological and genetic counseling. The type, dose, duration of hrt is not well studied. Reproductive issues also need to be addressed in these young woman. We report here a case of complete androgen insensitivity which posed a quandary for management of long term bone health. Review of literature for management is discussed. These cases are best managed by a multi-disciplenary team comprising of gynecologist, geneticist, endocrinologist and clinical psycologist or psychiatrist. more...
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- 2019
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8. Seminoma leading to detection of testicular feminization syndrome: a case report.
- Author
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Nakamura, S., Tsujioka, H., Fukami, T., Goto, M., Matsuoka, R., and Eguchi, F.
- Subjects
- *
SEMINOMA , *ANDROGEN-insensitivity syndrome , *GENITALIA , *TESTICULAR cancer , *OVARIAN cancer - Abstract
The authors here report a 54-year-old (gravida 0, para 0), who claimed to have had her menarche at age 13 and menopause at 52 years. Two months prior to presentation, the subject first noticed a hard but elastic fist-sized mass in the left inguinal region that gradually grew, causing pressure-related pain. Although the external genitalia appeared female, the vagina was short and blind-ending, and no uterus or ovaries were identified on transvaginal ultrasound. Chromosome banding results (G-band method) showed 46XY. Laparoscopy revealed no traces of a vestigial uterus or ovaries; thus, based on the appearance of the external genitalia, a diagnosis of testicular feminization syndrome was made. Pathological testing of the palpable mass led to a diagnosis of seminoma with Leydig cell hyperplasia. Thus, in this case, the development of a seminoma in an undescended testis led to the detection of testicular feminization syndrome. [ABSTRACT FROM AUTHOR] more...
- Published
- 2017
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9. Complete Androgen Insensitivity Syndrome: Dilemmas for Further Management after Gonadectomy.
- Author
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Singh, Pratibha, Gothwal, Meenakshi, Yadav, Garima, and Singh, Kuldeep
- Subjects
ANDROGEN-insensitivity syndrome ,CASTRATION ,GENETIC counseling ,HORMONE therapy ,DILEMMA ,CASTRATION-resistant prostate cancer - Abstract
Complete androgen insensitivity syndrome is a rare condition, wherein a genetic male is phenotypically female and is raised as a female. Treatement requires timely gonadectomy, need for long term hormonal replaceent therapy, psycological and genetic counseling. The type, dose, duration of hrt is not well studied. Reproductive issues also need to be addressed in these young woman. We report here a case of complete androgen insensitivity which posed a quandary for management of long term bone health. Review of literature for management is discussed. These cases are best managed by a multi-disciplenary team comprising of gynecologist, geneticist, endocrinologist and clinical psycologist or psychiatrist. [ABSTRACT FROM AUTHOR] more...
- Published
- 2019
- Full Text
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10. Androgen insensitivity syndrome – A case report with literature review
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Mathur, P.N., Saini, O.P., Vyas, Jyotsana, Suman, A., Saini, P.K., and Kothari, N.S.
- Published
- 2007
11. Timing of Gonadectomy in Patients with Complete Androgen Insensitivity Syndrome–Current Recommendations and Future Directions.
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Patel, Vrunda, Casey, Rachel Kastl, and Gomez-Lobo, Veronica
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ANDROGEN-insensitivity syndrome , *CASTRATION , *PATIENT management , *ALGORITHMS , *DISEASE risk factors , *THERAPEUTICS ,GONADAL diseases - Abstract
This review highlights the controversy regarding timing of gonadectomy in patients with complete androgen insensitivity syndrome (CAIS). We will review the published literature regarding frequency of gonadal malignancy and summarize historical findings. Recent research suggests that gonadectomy may be deferred until adulthood due to the low risk of malignancy. An algorithm is also provided to help guide clinicians in management of patients with complete androgen insensitivity syndrome who have deferred gonadectomy. [ABSTRACT FROM AUTHOR] more...
- Published
- 2016
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12. Androgen Insensitivity Syndrome - A Case Report.
- Author
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Bangal, V. B., Gavhane, S. P., Gupta, K., and Gangapurwala, S.
- Subjects
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ANDROGEN-insensitivity syndrome , *KARYOTYPES , *HORMONE therapy - Abstract
Androgen insensitivity syndrome (AIS), formerly known as testicular feminization, is an X-linked recessive condition resulting in a failure of normal masculinisation of the external genitalia in chromosomally male individuals. It affects 2 to 5 per 100,000 people who are genetically male. A case of Androgen insensitivity syndrome is reported in a 20 year-old married woman, who presented with a history of primary amenorrhea. Her karyotype report revealed a male karyotype (46XY). Transvaginal sonography revealed absence of cervix, uterus and ovaries. Ultrasound of abdomen pelvis reported - bilateral inguinal testes. Bilateral inguinal gonadectomy was done. Histopathology of the gonads revealed seminiferous tubules lined by germ cells exhibiting various stages of normal spermatogenesis. She was treated with hormonal replacement therapy. [ABSTRACT FROM AUTHOR] more...
- Published
- 2014
13. Ultrasound in Ambiguous Genitalia.
- Author
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Rokade, Muktachand L.
- Subjects
GENITAL abnormalities ,GENETIC disorders ,NEWBORN infants ,PSYCHOSOCIAL factors ,ULTRASONIC imaging ,DEVELOPMENTAL biology - Abstract
Ambiguous genitalia is a medical term for rare condition in which the newborn’s external genitalia do not conform to either male or female type. The condition of ambiguous genitalia has serious psycho-social concerns and is usually followed-up with a multitude of complex tests for identifying the gender and the cause of the anomaly. Three cases of ambiguous genitalia are reported here where ultrasound helped to elucidate the probable cause and to direct further appropriate tests. [ABSTRACT FROM AUTHOR] more...
- Published
- 2011
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14. Detection of aberrations in androgen receptor gene by analysis of single-stranded conformation polymorphisms in polymerase chain reaction products.
- Author
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Kondoh, N., Namiki, M., Takahara, S., Takada, S., Kitamura, M., Koh, E., Matsumiya, K., Kiyohara, H., and Okuyama, A.
- Abstract
Analysis of single-stranded conformation polymorphisms in polymerase chain reaction (PCR) products (PCR-SSCP) is a sensitive method for detecting point mutations in genomic DNA. To investigate its utility in examining the androgen receptor gene, we analyzed data on a patient with the testicular feminization syndrome (TFS) with a known point mutation in exon C. We detected mobility shifts of fragments of the corresponding region. Since examination of the subject's brother (legally sister), who also has TFS, revealed an identical shift pattern, we sequenced the exon C of the sibling and detected a mutation identical to that in the former. We conclude that PCR-SSCP is available for screening mutations of the androgen receptor gene. [ABSTRACT FROM AUTHOR] more...
- Published
- 1995
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15. Komplet androjen duyarsızlık sendromlu üç kız kardeş: Olgu sunumu.
- Author
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Özdemir, Özhan, Sarı, Mustafa Erkan, Akmut, Evren, Özcanlı, Gizem, and Atalay, Cemal Reşat
- Subjects
- *
ANDROGEN-insensitivity syndrome , *ANDROGENS , *INTERSEXUALITY , *SEX hormones , *ANDROSTANE - Abstract
Complete Androgen Insensitivity syndrome (testicular feminization) is the most common cause of male pseudohermaphroditism. The underlying pathology is end organ insensitivity to androgen stimulation. Androgen Insensitivity syndrome could be considered as a disease that causes resistance to androgens actions, influencing differentiation of the body structures and systems in which this hormone exerts its effects. Transmission of this disorder is by means of an X-linked recessive gene that is responsible for the intracellular androgen receptor. The disorder is often found in several members of the same family. Thus family screening should be performed in the affected individuals. This article presents the case of three sisters diagnosed with Complete Androgen Insensitivity syndrome which was found out during the family history investigation of a female patient having a mass in her inguinal region and a diagnosis of Complete Androgen Insensitivity syndrome. [ABSTRACT FROM AUTHOR] more...
- Published
- 2014
- Full Text
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16. Complete androgen insensitivity syndrome - rare case of malignancy of dysgenetic gonads.
- Author
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Gamcová Viktória, Eim Josef, Meixnerová Ivana, and Hudeček Robert
- Subjects
- Adolescent, Amenorrhea complications, Child, Female, Gonads pathology, Humans, Karyotyping, Male, Androgen-Insensitivity Syndrome diagnosis, Androgen-Insensitivity Syndrome genetics, Androgen-Insensitivity Syndrome pathology, Neoplasms
- Abstract
Objective: A case report of a young patient with primary amenorrhea who was diagnosed with agenesis of the uterus and was genetically confirmed for complete androgen insensitivity syndrome with already developed malignancy of dysgenetic gonads., Case Report: The 17-year-old patient visited a gynecological clinic for primary amenorrhea. Both ultrasound and vaginal examination revealed suspicion of uterine agenesis, which was subsequently verified during diagnostic laparoscopy. Genetic testing showed karyotype 46,XY, and a rare diagnosis - complete androgen insensitivity syndrome. A secondary finding from a left gonadal biopsy was a Sertoli-Leydig cell tumor. The patient underwent bilateral gonadectomy and was given estrogen replacement therapy. She is now regularly examined by a pediatric oncologist., Conclusion: Complete androgen insensitivity syndrome is a rare genetic disease characterized by varying degrees of feminization in individuals with a male karyotype. It should not be neglected, especially in the differential diagnostic work-up of primary amenorrhea. Genetic testing of the karyotype should be performed whenever uterine agenesis is suspected. more...
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- 2022
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17. A double nucleotide insertion-induced frame-shift mutation of the androgen receptor gene in a familial complete androgen insensitivity syndrome
- Author
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Rong, Hai Lan, Suzuki, Noriko, and Imai, Atsushi
- Subjects
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NUCLEOTIDES , *ANDROGEN-insensitivity syndrome , *GENETIC mutation , *MOLECULAR biology , *DRUG resistance , *IMMUNOBLOTTING , *AMINO acids , *CELL receptors , *DNA , *DOCUMENTATION - Abstract
Objective: A wide spectrum of androgen receptor (AR) gene mutations has been reported in complete androgen insensitivity syndrome (CAIS). The molecular basis of androgen resistance was investigated in a female with familial CAIS.Study Design: AR gene and protein were investigated by PCR and direct sequencing and Western immunoblotting, respectively.Results: Sequencing analysis of DNA of the patient identified a double nucleotide insertion in exon 4 that results in the frame-shift leading to premature terminal signal in the beginning of exon 6. This mutation predicted the synthesis of a truncated AR that lacks the entire ligand-binding molecules. Immunoblotting analysis of the gonad removed from the patient detected the mutated AR protein of 94 kDa. Positive control revealed the normal apparent molecular mass of 110 kDa. DNA sequencing of her mother demonstrated the presence of both canonical and mutated sequences in the exon 4 through 8.Conclusion: These findings suggested that the previously undescribed insertion mutation in the AR gene is the cause of CAIS in this family. [ABSTRACT FROM AUTHOR] more...- Published
- 2010
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18. A Rare Case of Large Epididymal Cyst in Androgen Insensitivity Syndrome Removed Laparoscopically.
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Kriplani, Alka, Savithrisowmya, S., Agarwal, Nutan, Garg, Pradeep, Maheswari, Deepa, Ammini, A.C., and Rajan, K.D. Anand
- Abstract
Abstract: Androgen insensitivity syndrome is a disorder of sexual differentiation with 46XY karyotype. The gonad is at risk (33% by 50 years of age) for development of malignant tumors. Hence, gonadectomy is warranted. We present a case of a 22-year-old woman diagnosed with androgen insensitivity syndrome during investigation of primary amenorrhea. Ultrasonography showed intraabdominally-located gonads, with a large, nontender cyst of 9.2×5.6×5.4cm size, with limited mobility, to the right of the midline. There was also a partial septum, with a wall thickness of 1 to 2mm and containing clear fluid. Because of suspicion of malignancy, complete surgery including laparoscopic peritoneal cytologic study, gonadectomy, lymphadenectomy, and omentectomy were performed. Histopathologic study showed testis with an epididymal cyst. Formation of epididymal cyst is rare in these cases. The patient did well in the postoperative period. She was put on hormone replacement therapy and is doing well. [Copyright &y& Elsevier] more...
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- 2009
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19. Bilateral testicular tumors in androgen insensitivity syndrome.
- Author
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Sakai, Naoki, Yamada, Tetsuo, Asao, Takeshi, Baba, Masaya, Yoshida, Minoru, and Murayama, Tetsuo
- Subjects
- *
TESTIS tumors , *ANDROGENS - Abstract
We report on a case of complete androgen insensitivity syndrome with bilateral testicular tumors and a point mutation in the androgen receptor gene. A bilateral gonadecotmy was performed and both of the resected tumors were histologically diagnosed as pure seminoma. Direct sequencing of amplified exons E–G of the androgen receptor gene from the resected tumor identified a CGA to CAA substitution in exon E, resulting in arginine to glutamine replacement at codon 752. To our knowledge, this is the first reported case of androgen insensitivity syndrome with bilateral testicular tumors. [ABSTRACT FROM AUTHOR] more...
- Published
- 2000
- Full Text
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20. Human Sex Chromosomes
- Author
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Therman, Eeva and Therman, Eeva
- Published
- 1980
- Full Text
- View/download PDF
21. Privacy and Genetic Information
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Lubs, Herbert A., Humber, James M., editor, and Almeder, Robert F., editor
- Published
- 1979
- Full Text
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22. Ultrasound in Ambiguous Genitalia
- Author
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Muktachand L. Rokade
- Subjects
ambiguous genitalia ,Müllerian remnant syndrome ,endocrine system ,congenital, hereditary, and neonatal diseases and abnormalities ,medicine.medical_specialty ,endocrine system diseases ,ultrasound ,business.industry ,Anatomy ,urologic and male genital diseases ,Dermatology ,Ambiguous genitalia ,Radiology Nuclear Medicine and imaging ,External genitalia ,medicine ,congenital adrenal hyperplasia ,Radiology, Nuclear Medicine and imaging ,business ,testicular feminization syndrome ,reproductive and urinary physiology - Abstract
Ambiguous genitalia is a medical term for rare condition in which the newborn’s external genitalia do not conform to either male or female type. The condition of ambiguous genitalia has serious psycho-social concerns and is usually followed-up with a multitude of complex tests for identifying the gender and the cause of the anomaly. Three cases of ambiguous genitalia are reported here where ultrasound helped to elucidate the probable cause and to direct further appropriate tests. more...
- Published
- 2011
- Full Text
- View/download PDF
23. Complete androgen insensitivity syndrome: Dilemmas for further management after gonadectomy
- Author
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Kuldeep Singh, Garima Yadav, Pratibha Singh, and Meenakshi Gothwal
- Subjects
0301 basic medicine ,Pediatrics ,medicine.medical_specialty ,Genetic counseling ,Case Report ,partial androgen insensitivity syndrome ,lcsh:Gynecology and obstetrics ,Bone health ,03 medical and health sciences ,0302 clinical medicine ,Hormone replacement therapy (female-to-male) ,Complete androgen insensitivity syndrome ,medicine ,Partial androgen insensitivity syndrome ,testicular feminization syndrome ,lcsh:RG1-991 ,030219 obstetrics & reproductive medicine ,business.industry ,Geneticist ,medicine.disease ,hormone replacement therapy ,Reproductive Issues ,030104 developmental biology ,Reproductive Medicine ,business ,Complete androgen insensitivity - Abstract
Complete androgen insensitivity syndrome is a rare condition, wherein a genetic male is phenotypically female and is raised as a female. Treatement requires timely gonadectomy, need for long term hormonal replaceent therapy, psycological and genetic counseling. The type, dose, duration of hrt is not well studied. Reproductive issues also need to be addressed in these young woman. We report here a case of complete androgen insensitivity which posed a quandary for management of long term bone health. Review of literature for management is discussed. These cases are best managed by a multi-disciplenary team comprising of gynecologist, geneticist, endocrinologist and clinical psycologist or psychiatrist. more...
- Published
- 2019
- Full Text
- View/download PDF
24. Complete androgen insensitivity syndrome in three sisters: A case report
- Author
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Mustafa Sari, Cemal Resat Atalay, Evren Akmut, Gizem Özcanli, and Ozhan Ozdemir
- Subjects
medicine.medical_specialty ,genetic structures ,medicine.drug_class ,Testicular feminization syndrome ,education ,lcsh:Medicine ,urologic and male genital diseases ,lcsh:Gynecology and obstetrics ,Complete androgen insensitivity syndrome ,Internal medicine ,Medicine ,lcsh:RG1-991 ,Testicular feminization ,business.industry ,Male pseudohermaphroditism ,lcsh:R ,Obstetrics and Gynecology ,medicine.disease ,Androgen ,Androgen receptor ,Complete Androgen Insensitivity Syndrome ,Inguinal mass ,Endocrinology ,sense organs ,business ,Hormone - Abstract
Complete Androgen İnsensitivity Syndrome (Testicular feminization) is the most common cause of male pseudohermaphroditism. The underlying pathology is an end organ resistance to androgen stimulation. Androgen Insensitivity Syndrome could be considered as a disease that causes resistance to androgens actions, influencing differentiation of the body structures and systems in which this hormone exerts its effects. Transmission of this disorder is by means of an X-linked recessive gene that is responsible for the androgen intracellular receptor. The disorder is often found in several members of the same family. This article presents the case of three sisters diagnosed with Complet Androgen Insensitivity Syndrom which was found out during the family history investigation of a female patient having a mass in her inguinal region and a diagnosis of Complet Androgen Insensitivity Syndrom. more...
- Published
- 2014
25. Клинический случай дисгенезии гонад в составе комбинированного хромосомного мозаицизма у девушки
- Subjects
дисгенезия гонад ,синдром тестикулярной феминизации ,нарушение формирования пола ,дисгенезія гонад ,синдром тестикулярної фемінізації ,порушення формування статі ,gonadal dysgenesis ,testicular feminization syndrome ,disorder of the gender formation - Abstract
Представлено клінічний випадок складного порушення формування статі внаслідок хромосомного мозаїцизму (46ХХ[17]/46ХY[5]/45Х0[8]) із поєднанням дисгенезії гонад та синдрому тестикулярної фемінізації в дівчини-підлітка. Проаналізовано особливості диференційної діагностики в пацієнтки згідно із сучасними уявленнями про етіологію і патогенез патології, підходи до діагностики з позицій останнього консенсусу з надання допомоги дітям із невизначеністю статі та обґрунтовано вибір найоптимальнішої технології лікування., Представлен клинический случай сложного нарушения формирования пола вследствие хромосомного мозаицизма (46ХХ[17]/46ХY[5]/45Х0[8]) с сочетанием дисгенезии гонад и синдрома тестикулярной феминизации у девушки-подростка. Проанализированы особенности дифференциальной диагностики у пациентки согласно современным представлениям об этиологии и патогенезе патологии, подходы к диагностике с позиций последнего консенсуса по оказанию помощи детям с неопределенностью пола и обоснован выбор наиболее оптимальной технологии лечения., We presented a clinical case of complex disorder of gender formation due to chromosome mosaicism (46ХХ[17]/46ХY[5]/45Х0[8]) with a combination of gonadal dysgenesis and testicular feminization syndrome in a teenage girl. Features of differential diagnostics in patient according to modern concepts of etiology and pathogenesis of such pathology were analyzed as well as approaches to the diagnosis based on the last consensus that is dedicated to help children with gender ambiguity. The choice of the most optimal treatment technology is justified. more...
- Published
- 2015
26. Clinical case of gonadal dysgenesis in girl with combined chromosomal mosaicism
- Author
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Будрейко, Олена Анатоліївна; Інститут охорони здоров’я дітей та підлітків НАМН України and Будрейко, Олена Анатоліївна; Інститут охорони здоров’я дітей та підлітків НАМН України
- Abstract
We presented a clinical case of complex disorder of gender formation due to chromosome mosaicism (46ХХ[17]/46ХY[5]/45Х0[8]) with a combination of gonadal dysgenesis and testicular feminization syndrome in a teenage girl. Features of differential diagnostics in patient according to modern concepts of etiology and pathogenesis of such pathology were analyzed as well as approaches to the diagnosis based on the last consensus that is dedicated to help children with gender ambiguity. The choice of the most optimal treatment technology is justified., Представлен клинический случай сложного нарушения формирования пола вследствие хромосомного мозаицизма (46ХХ[17]/46ХY[5]/45Х0[8]) с сочетанием дисгенезии гонад и синдрома тестикулярной феминизации у девушки-подростка. Проанализированы особенности дифференциальной диагностики у пациентки согласно современным представлениям об этиологии и патогенезе патологии, подходы к диагностике с позиций последнего консенсуса по оказанию помощи детям с неопределенностью пола и обоснован выбор наиболее оптимальной технологии лечения., Представлено клінічний випадок складного порушення формування статі внаслідок хромосомного мозаїцизму (46ХХ[17]/46ХY[5]/45Х0[8]) із поєднанням дисгенезії гонад та синдрому тестикулярної фемінізації в дівчини-підлітка. Проаналізовано особливості диференційної діагностики в пацієнтки згідно із сучасними уявленнями про етіологію і патогенез патології, підходи до діагностики з позицій останнього консенсусу з надання допомоги дітям із невизначеністю статі та обґрунтовано вибір найоптимальнішої технології лікування. more...
- Published
- 2015
27. Immunohistochemical properties of the gonad in adult patient with testicular feminization syndrome (TFS). A case report
- Author
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Mrčela, Milanka, Rajc, Jasmina, Erman Vlahović, Mirna, and Topolovec, Zlatko
- Subjects
endocrine system ,immunohistochemistry ,male gonad ,testicular feminization syndrome ,urogenital system - Abstract
Objective: Testicular feminization syndrome is a form of male pseudohermaphroditism clinically characterized with female phenotype. We evaluate morphologic features of male gonad in 47 years old patient with an accent on its immunohistochemical properties. Method: Our patient have had a primary amenorrhea. External genitals were female, without pubic and axillary hair. Patient complained of light low abdominal discomfort, and pelvic mass. US confirmed cystic formation of the left gonad and lack of uterus. Tumor markers, including Ca 125, Ca 19, 9, Ca 1.53, CEA, AFP, LDH i HCG were normal but testosterone was high. Cystic formation of the left gonad was surgically removed, initially specified as a left ovary, and sent to quick frozen diagnostic. After that, the other gonad was removed. Pathohistological examination and karyotyping was done. Results: The inner layer of the cystic formation of the left gonad consisted of a single layer of serous cells. The wall of the cyst contained tissue which histological looks like immature testis with small lumen less only Sertoli cells seminiferous tubules, and hyperplastic clusters of Leydig cells between them. Quick frozen section histology, without clinical data, was suggestive for well differentiated Sertoli-Leydig cell tumor of the ovary. The other gonad macroscopically and microscopically was testis that had the same appearance of the seminiferous tubules and had hyperplastic Leydig cell areas. Immunohistochemical analyzes of the gonad sample reveal that Sertoli cells showed positivity for Inhibin α, Vimentin, CD99, CKAE1/AE3 and Calretinin and Leydig cells showed positivity for Inhibin α, Vimentin, CD99, CKAE1/AE3 and Calretinin, and weak positivity for S-100, Synaptophysin i NSE. Immunoreactivity for CD99 in hyperplastic areas of Leydig cells showed the most intensive positivity. PLAP and chromogranin were negative. Ki-67 nuclear positivity was found in less than 1% of Sertoli cells and in about 1% of Leydig cells in hyperplastic areas. Karyotype was 46xy. Conclusion: Although, surgical pathologists encounter TFS rare in a clinical practice, they should be aware of this condition, especially in lack of relevant clinical data, when it could be interpreted as tumor. more...
- Published
- 2012
28. Congenital absence of the uterus
- Author
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Menakaya, U.A., Iribhogbe, P., and Okonofua, F.E.
- Subjects
- *
UTERUS abnormalities , *INFERTILITY , *KARYOTYPES - Published
- 2002
- Full Text
- View/download PDF
29. Effect of exogenously administered estrogens on luteinizing hormone release in a complete testicular feminization syndrome patient with very low testosterone levels, before and after gonadectomy
- Author
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Marcelli, M., Nicoletti, I., Sansone, M. A., Reboldi, G. P., Angeletti, G., Santeusanio, F., and Brunetti, P.
- Published
- 1987
- Full Text
- View/download PDF
30. Síndrome de feminización total
- Author
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Francisca Pérez, Nelly Abodovsky, Avendaño I, Carlos Crisosto, and Ximena Vicanco
- Subjects
pseudohermafroditismo ,primary amenorrhea ,Síndrome de feminización testicular ,Testicular feminization syndrome ,Pediatrics, Perinatology and Child Health ,amenorrea primaria ,pseudohermaphroditism - Published
- 1977
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