scholarly journals Amenorrea primaria y disgerminoma en una paciente con disgenesia gonadal pura, reporte de caso

2017 ◽  
Vol 3 (4) ◽  
pp. 36-38
Author(s):  
Diego Armando Guerrero Gómez ◽  
Yessica Agudelo Zapata ◽  
Hector Sandoval Alzate ◽  
Luis Maldonado Acosta ◽  
Juan Manuel Arteaga Díaz ◽  
...  
Keyword(s):  
Case Report ◽  
Primary Care Physicians ◽  
Gonadal Dysgenesis ◽  
Primary Amenorrhea ◽  
Clinical Approach ◽  
Proper Treatment ◽  
Diagnostic Challenge ◽  
Ovarian Dysgerminoma ◽  
Swyer Syndrome ◽  
Rule Out

La amenorrea primaria representa un reto diagnóstico para el médico general y especialista, dado que el espectro etiológico es amplio y se requiere de un adecuado enfoque para garantizar una correcta orientación terapéutica.Se presenta el caso de una paciente de 18 años de edad con amenorrea primaria, quien a los 15 años presentó cuadro de abdomen agudo por disgerminoma ovárico. Cariotipo reportado como 46XY, configuró el diagnóstico de disgenesia gonadal pura o síndrome de Swyer.El presente reporte de caso ilustra los principales hallazgos de la disgenesia gonadal pura y ejemplifica el abordaje secuencial diagnóstico de una paciente con amenorrea primaria.Abstract Primary amenorrhea is a diagnostic challenge for Specialists and Primary Care Physicians, for proper treatment is required to perform a clinical approach and rule out differential diagnoses.This is a case report of a 18 years old patient with primary amenorrhea, who at age of 15 years old presented acute abdomen for ovarian dysgerminoma. Karyotype reported 46XY, and pure gonadal dysgenesis (Swyer syndrome) was diagnosed. This case report illustrates the main clinical features of pure gonadal dysgenesis and the primary amenorrhea›s clinical approach.

scholarly journals A Case of Swyer Syndrome Associated with Advanced Gonadal Dysgerminoma Involving Long Survival

2015 ◽  
Vol 8 (1) ◽  
pp. 179-184 ◽  
Author(s):  
Salete Da Silva Rios ◽  
Isabella Christina Mazzaro Monteiro ◽  
Larissa Gonçalves Braz dos Santos ◽  
Natasha Garcia Caldas ◽  
Ana Carolina Rios Chen ◽  
...  
Keyword(s):  
Sex Differentiation ◽  
Tanner Stage ◽  
Pubic Hair ◽  
Primary Amenorrhea ◽  
Histopathological Analysis ◽  
Current Case ◽  
Stage 4 ◽  
Ovarian Dysgerminoma ◽  
The University ◽  
Swyer Syndrome

Swyer syndrome is caused by abnormal sex differentiation during the embryonic period, resulting in incomplete intrauterine masculinization and undifferentiated gonads. The current case report describes a patient with Swyer syndrome associated with stage 3 gonadal dysgerminoma who has survived for 23 years. At age 18, this patient sought assistance for primary amenorrhea from the Gynecological Services Department of the University of Brasília Hospital. A physical examination revealed that the patient was at Tanner stage 4 with respect to axillary hair, breasts, and pubic hair; she presented with a eutrophic vagina and a small cervix. She was treated with a combination of estrogens and progestogens to induce cycling. Approximately 4 years later, a complex tumor was found and resected; a histopathological analysis revealed that this tumor was a right adnexal dysgerminoma with peritoneal affection. The patient was also subjected to chemotherapy. Her follow-up has continued to the present time, with no signs of tumor recurrence. In conclusion, this report describes an extremely rare case in which Swyer syndrome was associated with ovarian dysgerminoma; relative to similar patients, the described patient has survived for an unusually prolonged time.

scholarly journals Complete gonadal dysgenesis analysis in the population of Latvia: malignant outcomes and a review of literature

2021 ◽  
Author(s):  
Alise Jakovleva ◽  
Zanna Kovalova
Keyword(s):  
Median Time ◽  
Gonadal Dysgenesis ◽  
Additional Patient ◽  
Delayed Puberty ◽  
Primary Amenorrhea ◽  
Secondary Sexual Characteristics ◽  
Sexual Characteristics ◽  
Swyer Syndrome ◽  
Complete Gonadal Dysgenesis ◽  
Secondary Sexual

Background and aim. Complete gonadal dysgenesis or Swyer syndrome is a rare genetic disorder characterized by 46,XY karyotype and female phenotype with undeveloped streak gonads and high malignancy risk. The condition usually manifests in teenage and young adults with delayed puberty and primary amenorrhea. The purpose of this study was to investigate the incidence and potential malignant outcomes of complete gonadal dysgenesis in Latvia. Methods. 37 patients were included in a retrospective study from 1996 to 2016.  In fifteen cases, additional patient information was available. Information from medical records was collected on age at the time of diagnosis: anamnesis data, laboratory results, histology of gonads, and treatment. Results. Complete gonadal dysgenesis with karyotype 46,XY was proven in 36 (97.3%) cases and one (2.7%) case with karyotype 47,XY,+21. The average age of patients at the time of diagnosis was 15.4 ± 8.0 years. The study included 15 cases: eight patients (53.3%) were investigated for primary amenorrhea, and incomplete development of secondary sexual characteristics, 5 patients (33.3%) with abdominal pain and lower abdominal mass, 2 patients (13.3%) were diagnosed at birth. Gonadectomy was performed in 12 cases (80%). The median time between diagnosis and gonadectomy was 0.4 ± 4.3 years. The histopathology results from the gonadal biopsy showed malignancy in 7 cases (58.3%). The most commonly diagnosed tumors were dysgerminoma and gonadoblastoma. Conclusion. Early diagnosis of Swyer syndrome is necessary in view of the risk of malignancy that can develop at a young age. In several cases, the diagnosis of the syndrome was made only after the malignant process development. The study showed the median time between diagnosis and gonadectomy was suboptimal. Therefore, women with amenorrhea and lack of secondary sexual characteristics require careful investigation.  

scholarly journals Linear and Nonlinear Heart Rate Variability Analysis in Gonadal Dysgenesis (Swyer Syndrome): A Case Report

2021 ◽  
Author(s):  
Valdelias Xavier Pereira ◽  
Tatiana Dias de Carvalho ◽  
Marcos Antonio Marinovic ◽  
Alex Rey Norberto ◽  
José Maria Soares ◽  
...  
Keyword(s):  
Heart Rate ◽  
Heart Rate Variability ◽  
Case Report ◽  
Gonadal Dysgenesis ◽  
Heart Rate Variability Analysis ◽  
Variability Analysis ◽  
Linear And Nonlinear ◽  
Swyer Syndrome

Pure gonadal dysgenesis (Swyer syndrome) due to microdeletion in the SRY gene: a case report

2015 ◽  
Vol 28 (1-2) ◽  
Author(s):  
Gül Yesiltepe Mutlu ◽  
Heves Kırmızıbekmez ◽  
Hatip Aydın ◽  
Handan Çetiner ◽  
Serdar Moralıoğlu ◽  
...  
Keyword(s):  
Gonadal Dysgenesis ◽  
External Genitalia ◽  
Delayed Puberty ◽  
Sex Characteristics ◽  
Primary Amenorrhea ◽  
Laboratory Findings ◽  
Secondary Sex Characteristics ◽  
Disorder Of Sexual Development ◽  
Swyer Syndrome

Abstract46,XY complete gonadal dysgenesis (Swyer syndrome) is a rare cause of disorder of sexual development. This syndrome is caused by a defect in the determination of sex during embryogenesis and is characterised with female external genitalia, normal or rudimentary uterus, and streak gonads, despite the presence of the 46,XY karyotype. Most of the studied cases presented with leak of secondary sex characteristics and primary amenorrhea during adolescence. Laboratory findings reveal hypergonadotropic hypogonadism. Herein we present the case of a female with a 46,XY karyotype who was admitted with delayed puberty and detected to have a microdeletion in the

scholarly journals Primary amenorrhea with Swyer syndrome: a rare case report

2020 ◽  
Vol 10 (2) ◽  
pp. 130-132
Author(s):  
Aleya Ferdush Monni ◽  
Md Shafikul Islam ◽  
Md Faruque Pathan ◽  
Feroz Amin ◽  
Faria Afsana
Keyword(s):  
Case Report ◽  
External Genitalia ◽  
Chromosome Analysis ◽  
Interesting Case ◽  
Breast Development ◽  
Primary Amenorrhea ◽  
Rare Case Report ◽  
Axillary Hair ◽  
Laparoscopic Removal ◽  
Swyer Syndrome

Swyer syndrome with complete gonadal dysgenesis is associated with an absence of testicular differentiation in a phenotypic female with a 46, XY karyotype. The diagnosis is usually made at adolescence when primary amenorrhea is investigated. Here is an interesting case report of 18-year-old unmarried girl, who presented with primary amenorrhea and non-development of breasts. Her body built was musculin with broad shoulders, prominent Adam’s apple and deep voice. Examination of her secondary sexual charaistisctcs revealed no breast development, absent axillary hair and sparse pubic hairs with female type of external genitalia. Laboratoryanalyses revealed serum follicle-stimulating hormone and luteinizing hormone levels compatible with hypergonodotropichypogonadism. Pelvicultrasonography showed an infantile uterus and streak gonads. Chromosome analysis revealed 46, XYkaryotype. Laparoscopic removal of streak gonads was done as there is a risk of gonadoblastoma in such cases. The patient was started on hormonal replacement therapy. Swyersyndrome results mainly due to mutation in certain genes such as SRY gene, which leads to failure of development of testis. Birdem Med J 2020; 10(2): 130-132

scholarly journals Mixed Germ Cell Tumour in a Case of Pure Gonadal Dysgenesis (Swyer Syndrome) - A Case Report

Cureus ◽  
2016 ◽  
Author(s):  
Naveen P Kumar ◽  
Venugopal M ◽  
Anitha Mathews ◽  
Francis V James
Keyword(s):  
Case Report ◽  
Germ Cell ◽  
Gonadal Dysgenesis ◽  
Germ Cell Tumour ◽  
Cell Tumour ◽  
Swyer Syndrome

scholarly journals Rare case of complete gonadal dysgenesis 46 XY, Swyer syndrome

2017 ◽  
Vol 5 (2) ◽  
pp. 714
Author(s):  
Aravind Chander ◽  
Reshma Shri ◽  
Arun Muthuvel ◽  
Chandralekha Veluswamy
Keyword(s):  
Gonadal Dysgenesis ◽  
External Genitalia ◽  
Sexual Life ◽  
Primary Amenorrhea ◽  
Female Type ◽  
The Past ◽  
Donor Oocyte ◽  
Swyer Syndrome ◽  
Made In ◽  
Complete Gonadal Dysgenesis

Swyer syndrome also known as 46XY complete gonadal dysgenesis is a rare cause of primary amenorrhea. These patients are phenotypically females with female type of internal and external genitalia with absence of testicular tissues. They have streak gonads which have increased potential to turn into malignancy.  Bilateral gonadectomy should be done as soon as diagnosis is made. In present case, 20 years unmarried female came with complaints of menstrual bleeding only on taking medication. She never attained menarche, following which she was started on treatment outside, on withdrawal bleeding for the past 3 years. She was now evaluated and diagnosed as Swyer syndrome and bilateral gonadectomy was done laproscopically. Swyer syndrome patients can get married, have normal sexual life and can get pregnant through invitro fertilisation with donor oocyte if desired.

scholarly journals Incidental gonadoblastoma in swyer syndrome: a case report with brief review of literature

2021 ◽  
Vol 10 (5) ◽  
pp. 2107
Author(s):  
Gayatri Suresh ◽  
Rinchen Zangmo ◽  
Kallol Kumar Roy ◽  
Rakhi Rai ◽  
Deepali Garg ◽  
...  
Keyword(s):  
Case Report ◽  
Y Chromosome ◽  
Malignant Transformation ◽  
Sexual Differentiation ◽  
Adolescent Girl ◽  
Primary Amenorrhea ◽  
Review Of Literature ◽  
Adnexal Masses ◽  
Swyer Syndrome

Swyer syndrome is a disorder of sexual differentiation with an incidence of 1 in 80,000 population. Dysgenetic gonads have a propensity for malignant transformation particularly in the presence of Y chromosome and hence need prophylactic removal. We report a case of an adolescent girl who presented with primary amenorrhea who was identified as a case of 46 XY dysgenesis after karyotype studies. Extirpation of gonads were done laparoscopically and on histopathological assessment gonadoblastoma was detected. This case report aims to reiterate the importance of gonadectomy in patients with swyer syndrome as tumors could arise even in the absence of frank adnexal masses.

scholarly journals Gonadal Dysgenesis 46, XX Associated with Mayer-Rokitansky-Kuster-Hauser Syndrome: One Case Report

2010 ◽  
Vol 2010 ◽  
pp. 1-3 ◽  
Author(s):  
N. Bousfiha ◽  
S. Errarhay ◽  
H. Saadi ◽  
K. Ouldim ◽  
C. Bouchikhi ◽  
...  
Keyword(s):  
Case Report ◽  
Gonadal Dysgenesis ◽  
Primary Amenorrhea ◽  
Chromosomal Anomalies ◽  
Fish Analysis ◽  
Substitution Therapy ◽  
Hormone Substitution ◽  
Pelvic Mri ◽  
Ovarian Dysgenesis ◽  
Internal Genitalia

Introduction. The association of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome is very rare and appears to be coincidental, independent of chromosomal anomalies.Case Report. We report the case of a 19-year-old woman who presented primary amenorrhea and impuberism. The endocrine study revealed hypergonadotrophic hypogonadism. The karyotype was normal, 46XX. No chromosome Y was detected at the FISH analysis. Internal genitalia could not be identified on the pelvic ultrasound and pelvic MRI. Laparoscopy was undertaken and revealed concomitant ovarian dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome. There were no other morphological malformations.Conclusion. The pathogenesis of the association of gonadal dysgenesis and Mayer Rokitansky kuster hauser syndrome is still mysterious. The treatment is based essentially on hormone substitution therapy. The fertility prognosis is unfortunately compromised.

scholarly journals 46,XY Gonadal Dysgenesis (Swyer Syndrome): A Case Report with Late Diagnosis

2018 ◽  
Vol 2 (3) ◽  
pp. 120-123
Author(s):  
Ceren SANCAR ◽  
Nuri YILDIRIM ◽  
Sevinj MAMMADOVA ◽  
Ahmet Mete ERGENOĞLU ◽  
Nedim KARADADAŞ
Keyword(s):  
Case Report ◽  
Gonadal Dysgenesis ◽  
Late Diagnosis ◽  
Xy Gonadal Dysgenesis ◽  
Swyer Syndrome
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