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 A Rare Case of Swyer Syndrome

2019 ◽  
Vol 9 (2) ◽  
pp. 174-176
Author(s):  
Faria Afsana ◽  
Md Faruque Pathan ◽  
Shamshad Jahan Shelly
Keyword(s):  
Rare Case ◽  
Sex Differentiation ◽  
Hormone Replacement ◽  
Tanner Stage ◽  
Pubic Hair ◽  
Primary Amenorrhea ◽  
Abdominal Ultrasonography ◽  
Replacement Treatment ◽  
Patient Reported ◽  
Swyer Syndrome

Swyer syndrome is caused by abnormal sex differentiation during the embryonic period, resulting in incomplete intrauterine masculinization and undifferentiated gonads. The present case report describes a patient with Swyer syndrome associated with gonadoblastoma. At age of 16 years, this patient reported with primary amenorrhea at Gynae Department of the BIRDEM general Hospital. A physical examination revealed that the patient was at Tanner stage 4 with respect to axillary hair, breasts and pubic hair; she had normal vagina and a small cervix. As her examination findings revealed normal, she was referred to Endocrine outpatient (OPD) for further evaluation. Her karyotyping revealed 46XXY, abdominal ultrasonography revealed adnexal tumor in both sides. On laparotomy, complex tumor was found in both adnexal regions and both ovaries were resected and histopathology revealed gonadoblastoma. The patient was subjected to subsequent chemotherapy. She was treated with a combination of estrogens and progestogens to induce cyclical bleeding, which she discontinued after 3 years. She was lost to follow up for 16 years and again reported to endocrine OPD with irregular menstrual bleeding. Presence of any residual gonadal functional tissue was searched both biochemically and by imaging and the result was negative. Her menstruation was stopped by progestogens and which later on withdrawn successfully without any further onset of menstruation. In conclusion, this report describes an extremely rare case of Swyer syndrome with gonadoblastoma and spontaneous menstruation after a long period of discontinuation of hormone replacement treatment. Birdem Med J 2019; 9(2): 174-176

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.

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 Covid-19 Symptomatic Patients with Oral Lesions: Clinical and Histopathological Study on 123 Cases of the University Hospital Policlinic of Bari with a Purpose of a New Classification

2021 ◽  
Vol 10 (4) ◽  
pp. 757
Author(s):  
Gianfranco Favia ◽  
Angela Tempesta ◽  
Giuseppe Barile ◽  
Nicola Brienza ◽  
Saverio Capodiferro ◽  
...  
Keyword(s):  
University Hospital ◽  
Severe Illness ◽  
Histopathological Study ◽  
Warning Sign ◽  
Histopathological Analysis ◽  
Oral Lesions ◽  
New Classification ◽  
Early Lesions ◽  
Ulcerative Lesions ◽  
The University

The aim of this study is to report on the oral lesions detected in 123 patients diagnosed at the University Hospital of Bari from October 2020 to December 2020, focusing on the correlation of clinical and pathological features in order to purpose a new classification. Methods. General and specialistic anamnesis were achieved and oral examination was performed. The following data were collected: age/gender, general symptoms and form of Covid-19, presence and features of taste disorders, day of appearance of the oral lesions, type and features of oral lesions and day of beginning of therapies. If ulcerative lesions did not heal, biopsy was performed. Results. Many types of oral lesions were found and classified into four groups considering the timing of appearance and the start of the therapies. Early lesions in the initial stages of Covid-19 before the start of therapies was observed in 65.9% of the patients. In the histopathological analysis of four early lesions, thrombosis of small and middle size vessels was always noticed with necrosis of superficial tissues. Conclusion. The presence of oral lesions in early stages of Covid-19 could represent an initial sign of peripheral thrombosis, a warning sign of possible evolution to severe illness. This suggests that anticoagulant therapies should start as soon as possible.

scholarly journals Development and delivery of a work experience week programme for mechanical engineering

2020 ◽  
pp. 030641902098104
Author(s):  
A Gonzalez-Buelga ◽  
I Renaud-Assemat ◽  
B Selwyn ◽  
J Ross ◽  
I Lazar
Keyword(s):  
Work Experience ◽  
Mechanical Engineering ◽  
Engineering Students ◽  
Impact Analysis ◽  
Legal Term ◽  
Stage 4 ◽  
Engineering Design Problem ◽  
Hands On ◽  
University Of Bristol ◽  
The University

This paper focuses on the development, delivery and preliminary impact analysis of an engineering Work Experience Week (WEW) programme for KS4 students in the School of Civil, Aerospace and Mechanical Engineering (CAME) at the University of Bristol, UK. Key stage 4, is the legal term for the two years of school education which incorporate GCSEs in England, age 15–16. The programme aims to promote the engineering profession among secondary school pupils. During the WEW, participants worked as engineering researchers: working in teams, they had to tackle a challenging engineering design problem. The experience included hands-on activities and the use of state-of-the-art rapid prototyping and advanced testing equipment. The students were supervised by a group of team leaders, a diverse group of undergraduate and postgraduate engineering students, technical staff, and academics at the School of CAME. The vision of the WEW programme is to transmit the message that everybody can be an engineer, that there are plenty of different routes into engineering that can be taken depending on pupils’ strengths and interests and that there are a vast amount of different engineering careers and challenges to be tackled by the engineers of the future. Feedback from the participants in the scheme has been overwhelmingly positive.

INDEX OF SUSPICION

1992 ◽  
Vol 13 (11) ◽  
pp. 435-437
Author(s):  
Summer Smith ◽  
John L. Green ◽  
Susan K Lynch ◽  
Mark J. Polak
Keyword(s):  
Early Diagnosis ◽  
Physical Exertion ◽  
Tanner Stage ◽  
Pubic Hair ◽  
Acting Out ◽  
History Of ◽  
Prolonged Fatigue ◽  
Axillary Hair ◽  
Case Presentations ◽  
Diagnosed Diabetes

This section of Pediatrics in Review reminds clinicians of those conditions that can present in a misleading fashion and require suspicion for early diagnosis. Emphasis has been placed on conditions in which early diagnosis is important and that the general pediatrician might be expected to encounter, at least once in a while. The reader is encouraged to write possible diagnoses for each case before turning to the discussion, which is on the following page. We invite readers to contribute case presentations and discussions. Case 1 Presentation A 17-year-old boy is admitted to the hospital for evaluation and management of recently diagnosed diabetes mellitus. His mother expresses concern about his acting-out behavior and about frequent difficulties in drinking from a glass due to tremors. On examination he is found to be 68.5 inches tall, and he has a mild scoliosis. Evaluation of sexual development reveals axillary hair at Tanner stage III, pubic hair at stage V, penile length of 8 cm, left testicular volume of 3.0 x 1.8 cm, and an undescended right testicle. No breast tissue is palpable. Case 2 Presentation A 16-year-old girl is seen at your office with a history of prolonged fatigue and weakness. She has missed school frequently over the past 4 to 5 months, having had many vague complaints of "no energy," headaches, sore throats, aching knees, and the feeling that she will almost "pass out" if she does gymnastics or physical exertion of any kind.

Performance of Strongly Bowed Stators in a Four-Stage High-Speed Compressor

2004 ◽  
Vol 126 (3) ◽  
pp. 333-338 ◽  
Author(s):  
Axel Fischer ◽  
Walter Riess ◽  
Joerg R. Seume
Keyword(s):  
Mass Flow ◽  
High Speed ◽  
Static Pressure ◽  
Pressure Ratio ◽  
Axial Compressor ◽  
Pressure Rise ◽  
Maximum Pressure ◽  
Controlled Diffusion ◽  
Stage 4 ◽  
The University

The FVV sponsored project “Bow Blading” (cf. acknowledgments) at the Turbomachinery Laboratory of the University of Hannover addresses the effect of strongly bowed stator vanes on the flow field in a four-stage high-speed axial compressor with controlled diffusion airfoil (CDA) blading. The compressor is equipped with more strongly bowed vanes than have previously been reported in the literature. The performance map of the present compressor is being investigated experimentally and numerically. The results show that the pressure ratio and the efficiency at the design point and at the choke limit are reduced by the increase in friction losses on the surface of the bowed vanes, whose surface area is greater than that of the reference (CDA) vanes. The mass flow at the choke limit decreases for the same reason. Because of the change in the radial distribution of axial velocity, pressure rise shifts from stage 3 to stage 4 between the choke limit and maximum pressure ratio. Beyond the point of maximum pressure ratio, this effect is not distinguishable from the reduction of separation by the bow of the vanes. Experimental results show that in cases of high aerodynamic loading, i.e., between maximum pressure ratio and the stall limit, separation is reduced in the bowed stator vanes so that the stagnation pressure ratio and efficiency are increased by the change to bowed stators. It is shown that the reduction of separation with bowed vanes leads to a increase of static pressure rise towards lower mass flow so that the present bow bladed compressor achieves higher static pressure ratios at the stall limit.

INDEX OF SUSPICION

1994 ◽  
Vol 15 (12) ◽  
pp. 495-497
Author(s):  
Elliott M. Friedman ◽  
Alexandre T. Rotta ◽  
Vincent J. Menna
Keyword(s):  
Urinary Tract Infection ◽  
Early Diagnosis ◽  
Acute Urinary Retention ◽  
Positive Culture ◽  
Tanner Stage ◽  
Pubic Hair ◽  
The Past ◽  
Hair Development ◽  
Case Presentations ◽  
Similar Episode

This section of Pediatrics in Review reminds clinicians of those conditions that can present in a misleading fashion and require suspicion for early diagnosis. Emphasis has been placed on conditions in which early diagnosis is important and that the general pediatrician might be expected to encounter, at least once in a while. The reader is encouraged to write possible diagnoses for each case before turning to the discussion, which is on the following page. We invite readers to contribute case presentations and discussions. Case 1 Presentation A 13-year-old girl comes to you because it is so painful for her to urinate that she has developed acute urinary retention. Over the past 6 months she has had recurrent mild abdominal cramps; exactly 1 month ago she experienced a similar episode of dysuria. At that time she was able to urinate and was diagnosed by positive culture as having a urinary tract infection, for which she was treated. While preparing to catheterize her, you notice that this young woman is Tanner stage 5 in breast and pubic hair development, yet she states that she has never had a menstrual period. Her mother recalls her own menarche at age 11 years. Observations during the procedure allow you to determine the underlying cause of her problems.

scholarly journals Cryptomenorrhoea due to imperforate hymen: a case report

2019 ◽  
Vol 8 (7) ◽  
pp. 2946
Author(s):  
Romi Bansal ◽  
Priyanka . ◽  
Sneha .
Keyword(s):  
Female Genital Tract ◽  
Lower Abdominal Pain ◽  
Tanner Stage ◽  
Urogenital Sinus ◽  
Imperforate Hymen ◽  
Satisfactory Condition ◽  
Stage 4 ◽  
Complete Failure ◽  
Axillary Hair

Imperforate hymen is a rare obstructive congenital anomaly of the female genital tract which arises as a result of complete failure of canalisation of the inferior end of the vaginal plate at the junction between the urogenital sinus and the vagina. Its prevalence is 0.05%-0.1%. We are presenting a case of 14 years old girl who came with complaints of lower abdominal pain since 10 days not associated with nausea, vomiting and diarrhoea. She had not attained menarche but her secondary sexual characters were developed with breast, pubic and axillary hair in tanner stage 4. MRI revealed hematocolpos and hematometra with imperforate hymen. Hymenotomy was performed and 300-400 ml of thick tarry colour blood was drained. Her postoperative period was uneventful, and patient was discharged in satisfactory condition. On follow up after 1 month, patient resumed normal menses.

Laryngeal Langerhans Cell Histiocytosis: A Case Report and Literature Review

2020 ◽  
pp. 000348942095488
Author(s):  
Allen S. Zhou ◽  
Lei Li ◽  
Thomas L. Carroll
Keyword(s):  
Literature Review ◽  
Langerhans Cell Histiocytosis ◽  
Medical Center ◽  
Tertiary Care ◽  
Rare Condition ◽  
Surgical Excision ◽  
Langerhans Cell ◽  
Histopathological Analysis ◽  
Current Case ◽  
Tertiary Care Medical Center

Objective: To describe a case of laryngeal Langerhans cell histiocytosis, discuss its characteristic features and management, and provide a review of the available literature. Methods: A patient presenting to a tertiary care medical center with dyspnea and hoarseness is described. A literature review of laryngeal Langerhans cell histiocytosis cases was performed through a search of articles indexed in the National Institutes of Health PubMed system. Results: We report a case of a 69-year old male, who presented with a laryngeal mass highly suspicious for laryngeal squamous cell carcinoma, was treated with laser excision, and was subsequently found to have laryngeal Langerhans cell histiocytosis upon histological analysis. Including our current case, we found six prior reported cases of laryngeal Langerhans cell histiocytosis in the literature. Of the six cases, four were in adults, while two were in children. Dyspnea is a common presenting complaint present in all cases. Smoking may be a potential risk factor. Conclusions: Laryngeal Langerhans cell histiocytosis is a rare condition and an important consideration in the differential diagnosis of patients presenting with a laryngeal mass and symptoms of dyspnea or hoarseness. Biopsy and histopathological analysis are key to the diagnosis. Surgical excision and radiotherapy are successful treatments used in clinical practice.

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