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.

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

2020 ◽  
Vol 5 (5) ◽  
pp. 01-02
Author(s):  
Nadir Aliyev
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.

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 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 Swyer syndrome with malignant germ cell tumor: a case report

2021 ◽  
Vol 52 (1) ◽  
Author(s):  
Soha Talaat Hamed ◽  
MennatAllah Mohamed Hanafy
Keyword(s):  
Germ Cell ◽  
Germ Cell Tumor ◽  
Sexual Development ◽  
Gonadal Dysgenesis ◽  
Germ Cell Tumors ◽  
Cell Tumor ◽  
Rare Form ◽  
Disorder Of Sexual Development ◽  
Malignant Germ Cell Tumor ◽  
Swyer Syndrome

Abstract Background Swyer syndrome (Pure gonadal dysgenesis, 46 XY) is a rare form of disorder of sexual development. These patients presented with external female phenotype, normal Mullerian structures and streak gonads. Pure gonadal dysgenesis, XY patients are more likely to develop germ cell tumors due to the presence of the Y chromosome. Case presentation A 19-year-old patient with a female external phenotype presented with primary amenorrhea. Clinical examination, Karyotyping, imaging, and histopathological assessment revealed Swyer syndrome. On imaging, a right adnexal mass with calcification was detected. Laparoscopic surgery with histopathology revealed a malignant germ cell tumor. Conclusions Swyer syndrome represents a rare form of sexual development that necessitates a meticulous clinical, laboratory and radiological evaluation. Clinically, the patients have a female external phenotype with 46xy Karyotyping. Imaging, Ultrasound is the primary imaging modality Imaging and MRI helps in detection of the exact site of streak gonads and characterization of lesions. CT is useful in detecting calcification, which is a hallmark in the diagnosis of gonadoblastoma. Early diagnosis of Swyer syndrome is crucial as prophylactic gonadectomy in these cases reduces the risk of developing germ cell tumors.

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 Swyer Syndrome and 46,XY Partial Gonadal Dysgenesis Associated with 9p Deletions in the Absence of Monosomy-9p Syndrome

1998 ◽  
Vol 63 (3) ◽  
pp. 901-905 ◽  
Author(s):  
R.A. Veitia ◽  
M. Nunes ◽  
L. Quintana-Murci ◽  
R. Rappaport ◽  
E. Thibaud ◽  
...  
Keyword(s):  
Gonadal Dysgenesis ◽  
Partial Gonadal Dysgenesis ◽  
Swyer Syndrome

REPLACEMENT ORAL ETHINYLOESTRADIOL THERAPY FOR GONADAL DYSGENESIS: GROWTH AND ADRENAL ANDROGEN STUDIES

1979 ◽  
Vol 91 (3) ◽  
pp. 519-528 ◽  
Author(s):  
Anne W. Lucky ◽  
Samuel P. Marynick ◽  
Robert W. Rebar ◽  
Gordon B. Cutler ◽  
Michael Glen ◽  
...  
Keyword(s):  
Gonadal Dysgenesis ◽  
Bone Age ◽  
Pubic Hair ◽  
Height Velocity ◽  
First Year ◽  
Adrenal Androgen ◽  
Secondary Sexual Characteristics ◽  
Sexual Characteristics ◽  
Second Year ◽  
Pre Treatment

ABSTRACT We have studied growth and adrenal dehydroepiandrosterone (DHA) responses to iv synthetic adrenocorticotrophic hormone (ACTH, Cortrosyn) in 6 girls with gonadal dysgenesis before and during treatment with lowdose ethinyloestradiol (EOe2). In all patients there was a statisfactory induction of secondary sexual characteristics including increase in breasts and pubic hair and onset of withdrawal bleeding within 6 months of therapy. Height velocity increased from 2.8 ± 0.9 cm/year pre-treatment to 5.3 ± 1.5 cm/year (P < 0.02) in the first year. There was deceleration to 1.9 ± 1.1 cm/year in the second year. There was no disproportionate advancement in bone age and thus, presumably, no loss of ultimate height. We could demonstrate no change in basal or ACTH-stimulated levels of DHA, a specific adrenal androgen, to account for the increased pubic hair and growth in these patients.

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.

scholarly journals Swyer Syndrome

2020 ◽  
Vol 11 (3) ◽  
pp. 65-68
Author(s):  
G. R. Gazizova ◽  
F. V. Valeeva ◽  
M. R. Shaydullina ◽  
E. I. Akbirova
Keyword(s):  
Gonadal Dysgenesis ◽  
Clinical Observation ◽  
Clinical Symptoms ◽  
Objective Data ◽  
Xy Gonadal Dysgenesis ◽  
Swyer Syndrome ◽  
Swyer’S Syndrome

A clinical observation of a patient with Swyer's syndrome is presented. The article presents anamnesis data, phenotypic signs, clinical symptoms and objective data of the patient, the results of instrumental and hormonal studies, on the basis of which doctors of different specialties may suspect a violation of sex formation with XY gonadal dysgenesis.

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