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 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.  

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 Dysgerminoma presenting at fifty, consequence to undiagnosed Swyer syndrome

2021 ◽  
Vol 10 (8) ◽  
pp. 3249
Author(s):  
Sapna Vinit Amin ◽  
Aswathy Kumaran
Keyword(s):  
High Risk ◽  
Female Patient ◽  
Gonadal Dysgenesis ◽  
Primary Amenorrhea ◽  
Ovarian Malignancy ◽  
Disorder Of Sex Development ◽  
Sex Development ◽  
Male Karyotype ◽  
Swyer Syndrome ◽  
Complete Gonadal Dysgenesis

Swyer syndrome or XY complete gonadal dysgenesis (CGD) is a rare disorder of sex development (DSD) characterized by presence of dysgenetic gonads in a phenotypically female patient with a male karyotype. Usually Swyer syndrome is diagnosed following appropriate evaluation for amenorrhea in adolescence and prophylactic gonadectomy is done as these patients have high risk of developing malignancy in their dysgenetic gonads.  Here we presented patient who presented later in life with ovarian malignancy which turned out to be a consequence of undiagnosed Swyer syndrome. Her case exemplifies that fact that improper evaluation of primary amenorrhea in adolescence and omission to do prophylactic bilateral gonadectomy led to her presenting with malignancy at this advanced age. Therefore, be aware to not let Swyer syndrome go undiagnosed and mismanaged.

scholarly journals CLINICAL CASE OF A SUCCESSFUL PREGNANCY WITH THE COMPLETE FORM OF GONADAL DYSGENESIS - SWYER SYNDROME

2019 ◽  
Vol 6 (4) ◽  
pp. 225-228
Author(s):  
Elena V. Timokhina ◽  
N. V Afanas’yeva ◽  
Yu. A Samoylova ◽  
T. M Silayeva ◽  
V. S Belousova ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Gonadal Dysgenesis ◽  
Clinical Case ◽  
Reproductive Technology ◽  
Sry Gene ◽  
Successful Pregnancy ◽  
Pregnancy And Delivery ◽  
Complete Form ◽  
Swyer Syndrome ◽  
Complete Gonadal Dysgenesis

Swyer syndrome (46,XY complete gonadal dysgenesis) is a rare chromosomal pathology. This pathology occurs with a frequency of 1 in 80,000. In genetic analysis, mutations are most often found in the following genes: the SRY gene, the NR5A1 gene, the SOX9 gene, the MAP3K1 gene. Patients with this disease develop phenotypically as women, but due to the absence of gonads and eggs, independent pregnancy is impossible. This article describes a clinical case of a successful onset, course of pregnancy and delivery in a woman with Swyer syndrome using assisted reproductive technology.

46, XY complete gonadal dysgenesis with pubertal virilisation due to dysgerminoma/gonadoblastoma

2020 ◽  
Vol 13 (7) ◽  
pp. e235501
Author(s):  
Sarah Alam ◽  
Hiya Boro ◽  
Alpesh Goyal ◽  
Rajesh Khadgawat
Keyword(s):  
Germ Cell ◽  
Gonadal Dysgenesis ◽  
Germ Cell Tumour ◽  
Rare Condition ◽  
Cell Tumour ◽  
Breast Development ◽  
Primary Amenorrhea ◽  
Rare Presentation ◽  
Phenotypic Female ◽  
Complete Gonadal Dysgenesis

Complete gonadal dysgenesis (CGD) or Swyer syndrome is characterised by sexual infantilism in a phenotypic female with 46, XY karyotype. Patients with gonadal dysgenesis and Y-chromosome material are at a high risk of developing gonadoblastoma and dysgerminoma. A 16-year-old girl presented with progressive virilisation, poor breast development and primary amenorrhea. On evaluation, she was found to have male-range serum testosterone, large abdominopelvic mass lesion, elevated germ cell tumour markers and 46, XY karyotype. She underwent surgical excision of left gonadal mass and right streak gonad, histopathology of which revealed dysgerminoma and gonadoblastoma, respectively. A diagnosis of virilising germ cell tumour arising in the setting of 46, XY CGD was, therefore, made. This case highlights a rare presentation of 46, XY CGD and the need to consider early prophylactic gonadectomy in patients affected with this rare condition. The presence of dysgerminoma/gonadoblastoma should be suspected if a hitherto phenotypic female with CGD undergoes virilisation.

Swyer Syndrome, 46, XY complete gonadal dysgenesis in a patient with spontaneous menarche

2021 ◽  
Author(s):  
Dana Geru Geru ◽  
Alina Maria Dumitru ◽  
Georgiana Taujan Taujan ◽  
Adina Simona Dragomir
Keyword(s):  
Gonadal Dysgenesis ◽  
Swyer Syndrome ◽  
Complete Gonadal Dysgenesis

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 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.

Case about Swyer syndrome (complete, or “pure” gonadal dysgenesis)

2020 ◽  
Vol 5 (5) ◽  
pp. 01-02
Author(s):  
Zeineb Alaya
Keyword(s):  
Sexual Development ◽  
Gonadal Dysgenesis ◽  
Psychological Development ◽  
Female Type ◽  
Sexual Characteristics ◽  
Full Form ◽  
The One ◽  
Male Karyotype ◽  
Swyer Syndrome ◽  
Male Genotype

46XY - Swyer syndrome (complete, or “pure” gonadal dysgenesis) can be briefly described as a female phenotype in the male genotype. The disease is named for the British endocrinologist Gerald Swyer, who described it in 1955. The full form of dysgenesis is nonsyndromic (not accompanied by extragenital malformations), excludes the duality of sexual development (the presence of male primary sexual characteristics along with female ones), psychological development occurs according to the female type. Congenital pathology occurs in one case in 180,000 individuals with a male karyotype and is recorded more often than other forms of XY-dysgenesis of gonads. Based on these results of the one female, the diagnosis of Swiera syndrome (complete genital dysgenesis: impaired sexual development) was suspected.

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