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 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 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 46,XY Disorder of Sex Development Caused by 17α-Hydroxylase/17,20-Lyase Deficiency due to Homozygous Mutation ofCYP17A1Gene: Consequences of Late Diagnosis

2018 ◽  
Vol 2018 ◽  
pp. 1-6 ◽  
Author(s):  
Giampaolo Papi ◽  
Rosa Maria Paragliola ◽  
Paola Concolino ◽  
Carlo Di Donato ◽  
Alfredo Pontecorvi ◽  
...  
Keyword(s):  
Ethinyl Estradiol ◽  
Tanner Stage ◽  
Pubic Hair ◽  
Breast Development ◽  
Normal Male ◽  
Primary Amenorrhea ◽  
Homozygous Mutation ◽  
Tall Stature ◽  
Disorder Of Sex Development ◽  
Sex Development

Context.Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease due to specific enzyme deficiencies in the adrenal steroidogenesis pathway.Case Description.A 40-year-old Chinese woman was referred to the Endocrine Unit for the work-up of a syndrome characterized by long-lasting and multidrug resistant high blood pressure, severe hypokalemia with metabolic alkalosis, and primary amenorrhea. The patient presented with sexual infantilism, lack of breast development, absence of axillary and pubic hair, tall stature, and slenderness. CT scan revealed enlarged adrenal glands bilaterally and the absence of the uterus, the ovaries, and the Fallopian tubes. Furthermore, diffuse osteopenia and osteoporosis and incomplete ossification of the growth plate cartilages were demonstrated. Chromosomal analysis showed a normal male 46,XY, karyotype, and on molecular analysis of theCYP17A1gene she resulted homozygous for the g.4869T>A; g.4871delC (p.Y329Kfs?) mutation in exon 6. Hydrocortisone and ethinyl-estradiol supplementation therapy led to incomplete withdrawal of antihypertensive drug and breast development progression to Tanner stage B2 and slight height increase, respectively.Conclusions.We describe a late-discovered case of CAH with 46,XY disorder of sex development. Deficiency of 17α-hydroxylase/17,20-lyase due to a homozygous CYP17A1 gene mutation was the underlying cause. Laboratory, imaging, and genetic features are herein reported and discussed.

45,X/46,XY ovotesticular disorder of sex development revisited: undifferentiated gonadal tissue may be mistaken as ovarian tissue

2017 ◽  
Vol 30 (8) ◽  
Author(s):  
Juliana Gabriel Ribeiro de Andrade ◽  
Liliana Aparecida Lucci De Angelo Andrade ◽  
Gil Guerra-Junior ◽  
Andréa Trevas Maciel-Guerra
Keyword(s):  
Germ Cells ◽  
Gonadal Dysgenesis ◽  
Case Reports ◽  
Ovarian Tissue ◽  
Case Presentation ◽  
Disorder Of Sex Development ◽  
Gonadal Tissue ◽  
Sex Development ◽  
Genital Ambiguity ◽  
The Right

AbstractBackground:The 45,X/46,XY karyotype has been associated with mixed gonadal dysgenesis (MGD) and ovotesticular disorder of sex development (DSD). Our aim was to revise the diagnosis of ovotesticular DSD in two patients in the context of a retrospective study of 45,X/46,XY subjects with genital ambiguity.Case presentation:Patient 1 had a left streak gonad; the right one was considered an ovotestis. Patient 2 had a right testis; the left gonad was considered an ovary. Revision of the histological sections was performed. Both the “ovarian” part of the right gonad of patient 1 and the left “ovary” of patient 2 contained ovarian-type stroma with clusters of sex-cordlike structures and rare germ cells, compatible with undifferentiated gonadal tissue (UGT). Misdiagnosis of ovarian tissue in patients with 45,X/46,XY mosaicism or its variants could also be found in six published case reports.Conclusions:A distinction between 45,X/46,XY ovotesticular DSD and MGD should be made on past and future cases keeping in mind that UGT may be mistaken as ovarian tissue.

scholarly journals Consultation Liaison Psychiatry on Case Management of Children with Mixed Gonadal Dysgenesis Mosaicism 45X (60%) and 46XY (40%)

2021 ◽  
Vol 5 (2) ◽  
pp. 62-66
Author(s):  
Jeffriey Agung ◽  
Yunias Setiawati
Keyword(s):  
Quality Of Life ◽  
Gender Identity ◽  
Gonadal Dysgenesis ◽  
Case Reports ◽  
Disorder Of Sex Development ◽  
Mixed Gonadal Dysgenesis ◽  
Sex Development ◽  
Psychological Stressors

There is an increasing in admitted patients with cases of gender identity disorder in the daycare clinic of the Child and Adolescent Psychiatry Division Dr. Soetomo, it is necessary to increase understanding and clinical ability in relation to gender identity disorders through psychiatry consultation discussion, so that management can be achieved properly and comprehensively. Disorder of sex development (DSD) is a medical disorder that is associated with an incompatibility between chromosomes, gonads, phenotypes and anatomy which is characterized by the development of external genital organs that are incompatible with whether it is male or female. Genetalia ambiguos can cause significant psychological stressors for patients or their families, where as a result of the conditions experienced, it will lead to gender dysphoria with the resulting effects, among others, in the form of anxiety, depression and low self-esteem, to affect the quality of life of children as adolescents and adults. . The method of preparing this report is a case analysis and the role of CLP which is given based on the results of the examination and references to management in the field of psychiatry of children and adolescents in cases of DSD from children aged 12 years. Conducted to strengthen the adaptation of patients to problems identifying gender development and to their families by emphasizing the importance of achieving optimal quality of life for children. The results of the case reports describe the role of Consultation Liason Psychiatry through communication and consultation between related areas of expertise, supportive psychotherapy and continuous Cognitive Behavior Therapy (CBT) techniques along with psychoeducation in families providing good development results with results in reducing patient anxiety and depression, based on children's scoring Depression Inventory (CDI) of patients with Mosaicism, Mixed Gonadal Dysgenesis (MGD). The conclusion of this case report is that the problem of psychological stressors that arise in DSD requires psychiatric assistance according to the stages of child development. The important role of psychiatrists in the management of DSD cases has been recognized and stated in the joint consensus for the treatment of individuals with DSD since 2006. CLP needs to be built because of the complexity of treatment and therapy in DSD cases, which involve subspecialty pediatric endocrinology, urology, psychiatry, gynecology, genetics, workers. social nurse and medical ethics. described in the algorithm below in the management of cases of gender dysphoric. Keywords: disorder of sex development; mixed gonadal dysgenesis; consulation liason psychiatry disorder of sex development; mixed gonadal dysgenesis; consulation liason psychiatry

scholarly journals 220 46,XY disorder of sex development – partial gonadal dysgenesis – case report

2021 ◽  
Author(s):  
Matea Melša ◽  
Miram Pasini ◽  
Nevena Krnić ◽  
Marija Mikloš ◽  
Kristina Crkvenac Gornik ◽  
...  
Keyword(s):  
Case Report ◽  
Gonadal Dysgenesis ◽  
Disorder Of Sex Development ◽  
Sex Development ◽  
Partial Gonadal Dysgenesis
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