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 Her menstruation was stopped by progestogens and which later on withdrawn successfully without any further onset of menstruation.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 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 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 SUN-069 A 14 Year Old Female with Primary Amenorrhea

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Varshini Chakravarthy ◽  
Sehar Ejaz
Keyword(s):  
Hormone Replacement ◽  
Breast Development ◽  
Delayed Puberty ◽  
Primary Amenorrhea ◽  
Total Testosterone ◽  
Normal Limits ◽  
Disorder Of Sexual Development ◽  
Slow Progression ◽  
History Of ◽  
Swyer Syndrome

Abstract Background: Swyer Syndrome is an extremely rare disorder of sexual development. These patients often present with primary amenorrhea during adolescence and are phenotypically female with 46 XY chromosomes. Given the association of invasive gonadal malignancies with this disorder, suspicion should be high in patients who present with a stagnant or decreased rate of pubertal progression. We present a case of Swyer Syndrome in a 14-year-old female with primary amenorrhea in the setting of decreased pubertal progression. Case: A 14-year-old female presents with a chief complaint of primary amenorrhea. She first noticed breast budding 2 years prior but reports no significant increase in breast tissue over the last 2 years. She does not appreciate any other signs of puberty. She denies any acne, body odor, hirsutism, hair loss, or abdominal/pelvic pain. She denies any changes in her diet or physical activity and is not on any medication. No history of cancer, surgeries, or radiation exposure. There is no family history of infertility or delayed puberty. Her vitals on presentation are within normal limits. Her growth parameters are the following: weight-69.9 kilos, height-163 cm, and BMI-26.3. Physical exam shows a well-appearing adolescent with grossly female external genitalia and the breast exam is SMR II. No pubic or axillary hair appreciated on the exam. Although our patient did not meet the traditional definition of primary amenorrhea, a workup was started due to the slow progression of puberty. Initial blood testing shows normal blood count, electrolytes and thyroid levels. DHEA-S androstenedione, free and total testosterone were all within normal limits. Further results such as LH (25.4 uIU/mL), FSH (56.5 mIU/mL) and estradiol (22 pg/mL) along with low levels of AMH (0.52 ng/mL) and inhibin A (1pg/mL) confirms suspicion for ovarian insufficiency. Chromosomal analysis and pelvic ultrasound findings of a small uterus and ovaries led to our diagnosis of Swyer syndrome. Our patient had surgical resection of both ovaries and fallopian tubes and the ovarian pathology showed gonadoblastoma with invasive dysgerminoma in both gonads. She was started on hormone replacement after gonadectomy. Conclusion: Although Swyer syndrome is uncommon with an incidence of 1 in 80,000, this case illustrates that suspicion for Swyer Syndrome should be high in patients with slow progression of puberty and primary amenorrhea (1). Early diagnosis is critical, as patients with gonadal dysgenesis are at great risk for germ cell cancers. Though most of these patients have an identifiable genetic mutation, we were unable to elicit the exact mutation in our patient despite whole-genome sequencing. References: Jaideep Khare, Prasun Deb, Prachi Srivastava & Babul H. Reddy (2017) Swyer syndrome: The gender swayer?, Alexandria Journal of Medicine, 53:2, 197–200, DOI: 10.1016/j.ajme.2016.05.006 Varshini Chakravarthy, Sehar Ejaz. A 16-Year-Old With Amenorrhea and Delayed Breast Development - Medscape - Jan 14, 2020

A case of successful swyer syndrome treatment in two sisters

2014 ◽  
Vol 18 (4 (72)) ◽  
Author(s):  
L. I. Sehediy
Keyword(s):  
Hormone Replacement Therapy ◽  
Replacement Therapy ◽  
Hormone Replacement ◽  
Treatment Method ◽  
Primary Amenorrhea ◽  
Elevated Concentration ◽  
Laboratory Findings ◽  
Egg Donor ◽  
Twin Pregnancies ◽  
Swyer Syndrome

A case of successful Swyer syndrome treatment in two sisters has been described. Phenotypically both patients were women with 46, XY karyotype. Anamnesis: primary amenorrhea and infertility in both cases, an USG scan revealed decrease in size of the uterus and ovaries, laboratory findings: essentially elevated concentration of gonatropins in the blood serum. Laparoscopic gonadectomy has been performed. Hormone replacement therapy has been administered, regular period has developed in both patients under the received hormone replacement therapy. Infertility treatment was provided by an egg donor IVF cycle. The fact of a singleton and twin pregnancies occurrence which resulted respectively in one mature and two premature children confirms effectiveness of the applied treatment method.

scholarly journals A patient with Turner syndrome received the percutaneous vertebroplasty seven times: a case report and literature review

2021 ◽  
Vol 26 (1) ◽  
Author(s):  
Longyu Li ◽  
Yifang Shi ◽  
Nan Zhao ◽  
Zhengpei Liu ◽  
Zhe Zhao ◽  
...  
Keyword(s):  
Case Report ◽  
Turner Syndrome ◽  
Rare Case ◽  
Percutaneous Vertebroplasty ◽  
Hormone Replacement ◽  
Estrogen Deficiency ◽  
Vertebral Compression Fractures ◽  
Severe Osteoporosis ◽  
Replacement Treatment ◽  
Number Of Patients

Abstract Background Turner syndrome (TS) is characterized as the complete or partial absence of one X chromosome and is an extremely rare disease affecting approximately 1:2500 live female births. Though the prevalence of osteoporosis among women with TS is estimated to be around 55–64% and they suffer more frequently from fractures than normal, few reports concerning TS patients with osteoporosis are able to be seen due to tiny number of patients. Case presentation Here, we report a rare case of TS with osteoporosis, who has undergone percutaneous vertebroplasty (PVP) seven times because of several vertebral compression fractures (VCFs). G-banded karyotype analysis was performed and the result was 45,X[43]/47,XXX[17], indicating that the patient was a mosaicism of TS karyotype and Trisomy X syndrome karyotype. TS is the underlying cause of low level of estrogen for this patient. The interaction of aging, estrogen deficiency and intestinal dysbacteriosis leads to her severe osteoporosis and multi-segmental VCFs. The aim of this report is to provide recommendations regarding the management of TS patients with osteoporosis by reviewing the clinical presentation of TS, the influence of estrogen deficiency in osteoporosis, etc. Conclusions Early diagnosis and hormone replacement treatment are essential for TS patients to prevent osteoporosis and reduce the risk of fractures. This is a rare case report describing TS patient with severe osteoporosis and VCFs.

scholarly journals Disorder of Sexual Development with Sex Chromosome Mosaicism 46 XY and 47 XXY

2013 ◽  
Vol 4 (1) ◽  
pp. 34-37
Author(s):  
Sampath Kumar Govindaraj ◽  
Lakshmidevi Muralidhar ◽  
Rajiv Kumar Saxena
Keyword(s):  
Sexual Development ◽  
Sex Chromosome ◽  
Tanner Stage ◽  
Testicular Atrophy ◽  
Breast Development ◽  
Primary Amenorrhea ◽  
Cell Hyperplasia ◽  
Chromosome Mosaicism ◽  
Disorder Of Sexual Development ◽  
Patient Reported

ABSTRACT Incidence of abnormalities of sex chromosome is reported to be 1 in 448 new born babies. The association between clinical phenotype and sex chromosome abnormality is highly variable. A 34-year-old unmarried female patient reported to out patient department with complaints of primary amenorrhea and occasional pain in the lower abdomen. On examination, her height was 160 cm and body mass index (BMI) was 27 kg/m2. Breast development was Tanner stage 4, pubic hair was tanners stage 1 and no axillary hair was noted. Ultrasonography showed a hypoechoic structure in the place of uterus measuring around 1.7 × 1.1 × 1.0 cm and hypoechoic structures were also noted in relation to iliac vessels suggestive of gonads. Karyotyping showed 46 XY and 47 XXY mosaicism. Bilateral gonadectomy was done and histopathology showed testicular atrophy with Leydig cell hyperplasia. This case is reported in view of the interesting clinical presentation of this rare mosaicism. How to cite this article Govindaraj SK, Muralidhar L, Venkatesh S, Saxena RK. Disorder of Sexual Development with Sex Chromosome Mosaicism 46 XY and 47 XXY. Int J Infertility Fetal Med 2013;4(1):34-37.

scholarly journals A Patient With Turner Syndrome Recieved the Percutaneous Vertebroplasty Seven Times: a Case Report and Literature Review

2021 ◽  
Author(s):  
Longyu Li ◽  
Yifang Shi ◽  
Nan Zhao ◽  
Zhengpei Liu ◽  
Zhe Zhao ◽  
...  
Keyword(s):  
Case Report ◽  
Turner Syndrome ◽  
Rare Case ◽  
Percutaneous Vertebroplasty ◽  
Hormone Replacement ◽  
Estrogen Deficiency ◽  
Vertebral Compression Fractures ◽  
Severe Osteoporosis ◽  
Replacement Treatment ◽  
Number Of Patients

Abstract Background Turner syndrome (TS) is characterized as the complete or partial absence of one X chromosome and is an extremely rare disease affecting approximately 1:2,500 live female births. Though the prevalence of osteoporosis among women with TS is estimated to be around 55-64% and they suffer more frequently from fractures than normal, few reports concerning TS patients with osteoporosis are able to be seen due to tiny number of patients. Case presentation Here we report a rare case of TS with osteoporosis, who has undergone percutaneous vertebroplasty (PVP) seven times because of several vertebral compression fractures (VCFs). G-banded karyotype analysis was performed and the result was 45,X[43]/47,XXX[17], indicating that the patient was a mosaicism of TS karyotype and Trisomy X syndrome karyotype. TS is the underlying cause of low level of estrogen for this patient. The interaction of aging, estrogen deficiency and intestinal dysbacteriosis leads to her severe osteoporosis and multi-segmental VCFs. The aim of this report is to provide recommendations regarding the management of TS patients with osteoporosis by reviewing the clinical presentation of TS, the influence of estrogen deficiency in osteoporosis, etc.Conclusions Early diagnosis and hormone replacement treatment are essential to prevent osteoporosis and reduce the risk of fractures. This is a rare case report describing TS patient with severe osteoporosis and VCFs.

scholarly journals XY Female: Two Cases with Different Gonads presenting as Primary Amenorrhea

2012 ◽  
Vol 4 (1) ◽  
pp. 23-25
Author(s):  
Badekai Poornima Ramachandra Bhat ◽  
H Mahesha Navada
Keyword(s):  
Hormone Replacement ◽  
Tumor Development ◽  
Androgen Insensitivity Syndrome ◽  
The Other ◽  
Delayed Puberty ◽  
Primary Amenorrhea ◽  
Complete Androgen Insensitivity Syndrome ◽  
Androgen Insensitivity ◽  
Swyer Syndrome ◽  
Xy Female

ABSTRACT Two 18-year-old female patients admitted to the hospital with the complaints of primary amenorrhea. The clinical examination and investigations revealed one of them as complete androgen insensitivity syndrome and the other Swyer syndrome. Bilateral gonadectomy was performed and hormone replacement therapy started for both the patients. These two conditions should be considered in the differential diagnosis in every adolescent female patient with delayed puberty and the importance of early gonadectomy should be stressed in order to avoid the risk of gonadal tumor development. How to cite this article Bhat BPR, Navada HM. XY Female: Two Cases with Different Gonads presenting as Primary Amenorrhea. World J Endocr Surg 2012;4(1):23-25.

scholarly journals Complete Androgen Insensitivity Syndrome: From Bench to Bed

2021 ◽  
Vol 22 (3) ◽  
pp. 1264
Author(s):  
Nina Tyutyusheva ◽  
Ilaria Mancini ◽  
Giampiero Igli Baroncelli ◽  
Sofia D’Elios ◽  
Diego Peroni ◽  
...  
Keyword(s):  
Receptor Gene ◽  
Hormone Replacement ◽  
Basic Research ◽  
Well Being ◽  
Androgen Receptor Gene ◽  
Androgen Insensitivity Syndrome ◽  
Primary Amenorrhea ◽  
Complete Androgen Insensitivity Syndrome ◽  
Androgen Insensitivity

Complete androgen insensitivity syndrome (CAIS) is due to complete resistance to the action of androgens, determining a female phenotype in persons with a 46,XY karyotype and functioning testes. CAIS is caused by inactivating mutations in the androgen receptor gene (AR). It is organized in eight exons located on the X chromosome. Hundreds of genetic variants in the AR gene have been reported in CAIS. They are distributed throughout the gene with a preponderance located in the ligand-binding domain. CAIS mainly presents as primary amenorrhea in an adolescent female or as a bilateral inguinal/labial hernia containing testes in prepubertal children. Some issues regarding the management of females with CAIS remain poorly standardized (such as the follow-up of intact testes, the timing of gonadal removal and optimal hormone replacement therapy). Basic research will lead to the consideration of new issues to improve long-term well-being (such as bone health, immune and metabolic aspects and cardiovascular risk). An expert multidisciplinary approach is mandatory to increase the long-term quality of life of women with CAIS.

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.

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