Swyer syndrome presenting as dysgerminoma: A case report / Journal of the ASEAN Federation of Endocrine Societies

@#Complete gonadal dysgenesis with 46,XY karyotype is a clinical condition characterized by the absence of testicular tissue but typical Mullerian structures in a phenotypically female individual. The condition presents as primary amenorrhoea or delayed puberty. Eventually, malignant neoplasms may arise. We report a case of a 16-year-old patient with Swyer syndrome presenting with primary amenorrhoea and with previous diagnosis four years earlier of a malignant dysgerminoma in the right ovary.

Swyer syndrome (46, XY complete gonadal dysgenesis): A rare case of primary amenorrhea / Philippine Journal of Obstetrics and Gynecology

@#Swyer syndrome is a type of gonadal dysgenesis wherein a 46,XY karyotype presents with a female phenotype. It is a rare cause of disorder in sexual development that occurs in 1:100,000 births. Local studies are currently limited to few case reports. Sex-determining region on the Y chromosome gene mutation is the root cause of nonfunctional gonads with no hormonal or reproductive potential. They are born with normal female external genitalia but not suspected until puberty when menses do not occur or if secondary sexual characteristics do not develop. This report presents the case of a 23-year-old phenotypically female presenting with primary amenorrhea and hypogastric discomfort. Ultrasound revealed an infantile cervix and uterus with streak left ovarian tissue and a cystic mass on the right pelvic area. Gonadotropin levels were elevated, and the karyotype showed a normal male 46,XY. Laparoscopic bilateral gonadectomy with salpingectomy was done, which revealed dysgerminoma on bilateral ovarian tissues. In conclusion, this report describes a rare case of Swyer syndrome associated with ovarian dysgerminoma. Accurate and prompt diagnosis, using a systematic approach in evaluating primary amenorrhea, is crucial in initiating treatment. Our goal is to ensure hormonal replacement, fertility preservation, psychosexual and emotional stress reduction, and overall patient survival.

Linear and Nonlinear Heart Rate Variability Analysis in Gonadal Dysgenesis (Swyer Syndrome): A Case Report

Abstract Swyer syndrome is one of the disorders of sexual differentiation. Previous studies have demonstrated increased sympathetic activity with heart rate variability (HRV) analysis with decreasing estradiol levels. One patient presented a pure 46, XY gonadal dysgenesis with female phenotype. Cardiac autonomic modulation was assessed through HRV analysis while at rest. This research analyzed linear and nonlinear indexes. HRV analysis showed reduced parasympathetic and global modulation with an apparent increase in sympathetic tone and a loss of HR fractal dynamics toward correlated behavior, characterized by low entropy and high determinism of time series.

Swyer syndrome: A case of primary amenorrhea in an 18-year-old with gonadal mixed germ cell tumor / Philippine Journal of Obstetrics and Gynecology

@#<p>An 18-year-old, G0, with primary amenorrhea consulting because of a rapidly enlarging abdominal mass was diagnosed with Swyer syndrome or 46 XY pure gonadal dysgenesis and subsequently underwent staging laparotomy for mixed germ cell tumor (dysgerminoma and yolk sac tumor) arising from her dysgenetic gonad. Bleomycin, etoposide, cisplatin regimen for three to four cycles was planned but the patient was lost to follow-up. A prompt evaluation of her amenorrhea and a timely gonadectomy could have averted the development of malignancy.</p>

Genetic analysis of a 46,XY female with sex reversal due to duplication of NR0B1 gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the pathogenesis of a 46,XY female with sex reversal.@*METHODS@#Peripheral blood lymphocytes of the patient were subjected to G-banding karyotype analysis. Sex chromosomes were analyzed with fluorescence in situ hybridization (FISH). SRY gene was analyzed by Sanger sequencing. The whole exome of the patient was subjected to next generation sequencing. Copy number variations (CNVs) of the NR0B1, SF1, SRY, SOX9 and WNT4 genes were validated by multiplex ligation-dependent probe amplification (MLPA).@*RESULTS@#The patient had a 46,XY karyotype. FISH analysis showed that her sex chromosomes were X and Y. No mutation was found in the SRY gene, and no pathogenic mutation was detected in her exome. However, a duplication spanning approximately 67.31 kb encompassing the MAGEB1, MAGEB3, MAGEB4 and NR0B1 genes at Xp21, was predicted by software analysis. MLPA confirmed duplication of the NR0B1 gene in the patient and her mother.@*CONCLUSION@#A duplication fragment of Xp21 encompassing the NR0B1 gene in the 46,XY female with sex reversal is transmitted from her asymptomatic carrier mother. Attention should be paid towards the insidious nature and high morbidity of this duplication.

Single scrotal-incision orchidopexy without ligation of processus vaginalis for palpable undescended testis / 中华男科学杂志

Objective@#To determine the feasibility and short-term effect of single scrotal-incision orchidopexy (SSIO) without ligation of the processus vaginalis (PV) in the treatment of palpable undescended testis (PUDT).@*METHODS@#This retrospective study included 109 cases of PUDT (125 sides) and 15 cases of impalpable undescended testis (IUDT). The former underwent SSIO without PV ligation (group A, n = 53) or standard inguinal orchidopexy with PV ligation (group B, n = 56) while the latter received laparoscopic exploration (group C). We analyzed the success rate of SSIO in the management of PUDT, postoperative complications, and incidence rates of hernia and hydrocele, and compared the relevant parameters between groups A and B.@*RESULTS@#The median age of the PUDT patients was 1.4 (0.6－11.0) years. Group A included 24 cases of left PUDT (2 with hydrocele), 20 cases of right PUDT (1 with hydrocele), and 9 cases of bilateral PUDT, the success rate of which was 95.1%. Group B consisted of 27 cases of left PUDT, 22 cases of right PUDT (3 with hernias), and 7 cases of bilateral PUDT. The rate of PV patency in the PUDT patients was 80.8% (101/125). Laparoscopic exploration of the 15 IUDT patients revealed 2 cases of congenital testis absence, 6 cases of testis dysplasia, all treated by surgical removal, 3 cases of staying around the inner ring, descended by inguinal orchidopexy, and the other 4 treated by laparoscopic surgery. The incisions healed well in all cases, with no testicular atrophy, inguinal hernia or hydrocele.@*CONCLUSIONS@#Single scrotal-incision orchidopexy without PV ligation is a safe and feasible procedure for the treatment of palpable undescended testis, which avoids the risk of inguinal hernia or hydrocele.

Female with 46, XY karyotype

Disorders of sex development (DSD) are congenital conditions characterized by atypical development of chromosomal, gonadal, and phenotypic sex. 46, XY DSD can result from disorders of testicular development or disorders of androgen synthesis/action. Prophylactic gonadectomy should be considered in patients with 46, XY DSD because of the increased risk of gonadal malignancy. We report two rare cases of 46, XY DSD, including XY pure gonadal dysgenesis and complete androgen insensitivity syndrome, who underwent a prophylactic gonadectomy.

The XY female: A rare case of Swyer syndrome with dysgerminoma

Swyer Syndrome is a pure form of gonadal dysgenesis that although rare, should not be disregarded in the differential diagnosis of patients who present with primary amenorrhea and abdominopelvic mass. The dysgenetic gonads fail to produce antimullerian hormone in an individual with Swyer Syndrome who is genetically male, resulting in feminization and absence of virilization. Phenotypically female, they usually seek consult at a later time during their teenage years due to primary amenorrhea. Our index patient consulted due to a large abdominopelvic mass and primary amenorrhea. Hormonal assay showed a hypergonadotropic hypogonadism endocrinologic milieu, and on karyotyping, showed a genetically male individual. This paper shall discuss an in-depth pre-operative, surgical and post-operative management of patients diagnosed with Swyer Syndrome.

Gonadoblastoma in a Swyer syndrome: A case report

Swyer syndrome is a form of complete gonadal dysgenesis, characterized by a 46, XY karyotype with female phenotype. They present with primary amenorrhea and absence of secondary sexual characteristics. It is believed to be due to SRY gene deletions or mutations. They are born with female external genitalia and not suspected until puberty fails to occur. This paper presents a case of 22-year old female with female external genitalia, an infantile uterus and cervix and streak gonads and absent secondary sexual characteristics, who presented with primary amenorrhea. Gonadotropin levels are elevated with low estradiol levels. Karyotype showed a normal male 46,XY. Since the streak gonads have the propensity for tumor development in 20-30% of the cases, laparoscopic bilateral gonadectomy with salpingectomY was done which showed gonadoblastoma on the right gonad. Early diagnosis is crucial in the initiation of treatment to prevent osteoporosis and enhance development of secondary sexual characteristics and eventually initiation of menstruation. In-vitro fertilization using donor oocyte has proven to be successful in some reported cases.

Clinical Features of 32 Patients with XO/XY Gonadal Dysgenesis / 中国医学科学院学报

Objective To summarize the clinical features of XO/XY gonadal dysgenesis. Method We retrospectively analyzed the clinical data of patients with XO/XY gonadal dysgenesis admitted to Peking Union Medical College Hospital from January 2008 to May 2015. Results Totally 32 patients with XO/XY gonadal dysgenesis were included. The social gender was female in all subjects and the age 6 to 33 years. Patients presented mainly with primary amenorrhea or short stature,and usually had specific somatic signs of Turner's syndrome. The breast development of 27 patients (84.38%) was less than level 3. The armpit hair was sparse or absent in 28 patients (87.5%) and the pubic hair was sparse or absent in 26 patients (81.25%).Other findings include naive vulva (n=18,56.25%)) and enlarged clitoris (n=5,15.63%). The average level of follicle stimulating hormone was (78.56±35.62) mIU/ml,the luteinizing hormone level was (20.23±11.35) mIU/ml,the estradiol level was (9.94±8.21) pg/ml,and the testosterone level was (0.24±0.18) ng/ml. All patients received prophylactic gonadectomy. The histopathology results showed a variety of gonads,and gonadal malignancy were observed in 4 patients.Conclusions Patients with XO/XY gonadal dysgenesis manifest primary amenorrhea or short stature,poorly developed secondary sexual characteristics,and elevated gonadotropin level. The gonads have increased risk of gonadal malignancy.

Testicular teratoma in children: Analysis of 64 cases / 中华男科学杂志

<p><b>OBJECTIVE</b>To improve the diagnosis and treatment of testicular teratoma in children by analysis of clinical data.</p><p><b>METHODS</b>We retrospectively analyzed the clinical data about 64 cases of testicular teratoma treated in the Children's Hospital of Chongqing Medical University from 1995 to 2014.</p><p><b>RESULTS</b>Sixty-one of the cases presented painless scrotal mass with a sense of bearing down and the other 3 cases were confirmed because of empty scrotum diagnosed as cryptorchidism. The level of serum alpha fetal protein ( AFP) was obviously increased in 46 cases but normal in the other 18 preoperatively. Ultrasonography manifested abnormal inhomogeneous echo zones with calcification or necrosis. X-ray examination presented patchy or curvilinear high-density shadows in 28 cases. Forty-one of the patients underwent testis-sparing surgery (TSS) , 20 received high inguinal orchiectomy, and 3 refused surgical treatment. Pathological examination revealed 3 mature germinal layers in the 49 cases of mature teratoma and immature germinal tissue, including the original neural tube, and 11 cases of immature teratoma. The mature cases were exempted from chemotherapy, while the immature cases received the combination of cisplatin, etoposide, and bleomycin (PEB). The patients were followed up for 2 years postoperatively, which revealed no recurrence or metastasis.</p><p><b>CONCLUSION</b>Most children with testicular teratoma presented painless scrotal mass with a sense of bearing down and with abnormal serum AFP in most cases. Ultrasonography and plain radiography of the scrotum contribute to the diagnosis of the tumor. TSS is the main treatment option and intraoperative frozen-section can help the surgeons decide on the surgical mode. Postoperative chemotherapy is necessitated for immature teratoma but not for mature cases.</p>

Complete androgen insensitivity syndrome in three sisters

Disorders of sexual development [DSD] are congenital anomalies due to atypical development of chromosomes, gonads and anatomy. Complete androgen insensitivity syndrome [CAIS], also known as testicular feminization [TF] is a rare DSD disease. The majority of CAIS patients apply to hospital with the complaint of primary amenorrhea or infertility. Given that CAIS patients are all phenotypically female while having 46, XY karyotypes, CAIS diagnosis should be disclosed in an age-appropriate manner preferably by a mental health professional. Cases are reported here for three 46XY siblings consistent with CAIS

Long-term disease free and successful pregnancy in a woman with gonadal dysgenesis and malignant germ cell tumor

To report a case of long-term disease free and successful pregnancy after fertility sparing staging surgery with adjuvant chemotherapy in a 46,Xy gonadal dysgenetic with malignant germ cell tumor. A case report from a university hospital about a 19-year-old female with 46,XY karyotype [Swyer syndrome]. The patient underwent bilateral gonadectomy and staging with uterus preservation. Six course adjuvant chemotherapy with VBP [Vinblastin, Bleomycin, Cisplatin] was given. The case got pregnant through IVF- embryo donation. Disease free period and successful pregnancy is reported. After treatment the patient is free of the disease after 11 years follow-up. She underwent in vitro fertilization treatment with oocyte donation and gave birth to a healthy ch. Improved multimodality treatment, allowance for consideration of fertility options for some women with gynecologic cancers. Since major concern in women with XY gonadal dysgenesis is ovarian malignancy, even with stage II dysgerminoma hysterectomy may not be required in some cases considering the opportunity for childbearing with the use of embryo transfer

Safety and effectiveness of testicular prosthesis implantation for testis loss: clinical observation of 18 cases / 中华男科学杂志

<p><b>OBJECTIVE</b>To investigate the effect and safety of the implantation of a new type of testicular prosthesis in the treatment of testis loss.</p><p><b>METHODS</b>We recruited for this study 18 patients with testis loss treated by testicular prosthesis implantation, including 10 cases of prostate cancer, 3 cases of anorchia, 2 case of orchiatrophy, 2 cases of hermaphroditism and 1 case of cryptorchidism. The prosthesis was a hollow silicone elastomer YH-G1 made in China, selected according to the volume of the scrotum and the size of the contralateral testis.</p><p><b>RESULTS</b>Thirteen of the patients received testicular prosthesis implantation with orchiectomy, and the other 5 underwent the procedure 6 months later. The operation time of testicular prosthesis implantation was (22.6 +/- 4.6) min, ranging from 15 to 30 minutes. All the patients were discharged after 12 hours of postoperative observation, with a mean hospital stay of (1.3 +/- 0.4) days. A follow-up after 6 months revealed no complications in 17 cases. Rejection occurred in 1 case at 3 months after the implantation, ending in the removal of the prosthesis. Of the 17 successful cases, 15 were very satisfied with the size of the prosthesis, 14 with its weight, 12 with its comfortableness, and all with the appearance of the scrotum and the position of the prosthesis, while 5 found the implant too rigid.</p><p><b>CONCLUSION</b>The implantation of the new home-made silicone elastomer testicular prosthesis YH-G1 was safe and effective for the treatment of testis loss, and could meet the esthetic and psychological requirements of the patient. But further observation is needed for its long-term complications and influence on the patient's quality of life.</p>

A case of 46, XY gonadal dysgenesis (Swyer syndrome) with yolk sac tumor

This is a case of a 23 years-old single, nulligravid with primary amenorrhea, sexual infantilism, tall stature who presented with abdominal enlargement. Ultrasound showed a small uterus, thin tall stature who presented with abdominal enlargement. Ultrasound showed a small uterus, thin endometrium, bilateral adnexal solid masses. Extensive diagnostic work-up for the etiology of the priamry amenorrhea led to the diagnosis of Swyer syndrome. Karyotyping showed 46, XY. On laparotomy, both gonads were solid with tumor implants on the omentum, mesentery and serosa of the small uterus. Total hysteroctomy with bilateral salpingo-gonadectomy, infracolic omentectomy, tumor debulking and biopsy of implants were done. Histopathologic report showed yolf sac (endodermal sinus tumor), both gonads and aforementioned implants. The risk of neoplasia in such cases is discussed.

Twin delivery of a 46,XY gonadal dysgenetic woman following vitrified oocytes donation / 中华医学杂志(英文版)

A 46,XY gonadal dysgenetic woman gave birth to two healthy girls following vitrified oocytes donation. The loss of SRY gene was considered as the cause of this patient. Although similar cases have been reported about pregnancies of 46,XY pure gonadal dysgenetic women, successful delivery from vitrified oocytes has been hardly reported yet. Oocytes vitrification technique provides a beneficial way by saving superfluous oocytes from the pregnancy patients to these women who need.

Diagnostic Laparoscopy for the Management of Impalpable Testes

PURPOSE: Controversy exists regarding the best approach to impalpable testes. We determined the usefulness of diagnostic laparoscopy for the management of impalpable testes. MATERIALS AND METHODS: Between 2000 and 2008, 86 patients with a mean age of 34 months underwent diagnostic laparoscopy. An inguinal canal exploration was performed in all cases, except in patients in whom the internal spermatic vessels terminated intraperitoneally with a blind end. RESULTS: The undescended testis was right-sided in 24 patients (27.9%), left-sided in 47 patients (54.7%), and bilateral in 15 patients (17.4%). Three patients (3.5%) had bilateral impalpable testes. The vas and vessels traversed the internal ring in 51 of 89 impalpable testes (57.3%); 20 (22.5%) were localized intraperitoneally, and 18 (20.2%) were diagnosed as vanishing testes. Open orchiopexies were performed on 24 testes (27.0%) and orchiectomies were performed on 43 nubbin testes (48.3%). After a mean follow-up period of 30 months, 12 of the 14 testes (85.7%) were viable following open conventional orchiopexy, compared with 6 of the 10 testes (60%) following a 1-stage Fowler-Stephens orchiopexy. CONCLUSIONS: Diagnostic laparoscopy is a very helpful and minimally invasive technique in the diagnosis of impalpable testes, especially when preoperative ultrasonography is not sufficiently informative.

Association of 45, X/46, XY mosaicism with disorders of sex development: the clinical analysis of 5 cases / 中华儿科杂志

<p><b>OBJECTIVE</b>To analyze clinical characteristics of children with 45, X/46, XY mosaicism and explore effective managements for them.</p><p><b>METHOD</b>Five children with 45, X/46, XY mosaicism were all in puberty period, of whom, three were female and two male. The standing height, weight and sexual development were measured. The levels of sex hormones, other endocrine parameters were also determined, and imaging examinations were performed.</p><p><b>RESULT</b>All the patients had disorders of sex development, of whom, 4 had short stature, and the HtSDs was -2.8 ± 1.1. The results of laboratory indexes suggested that 4 had hypergonadotropic hypogonadism, with the average level of LH (13.5 ± 5.8) IU/L and FSH (56.8 ± 37.4) IU/L. Imaging examinations revealed that 2 cases had cryptorchidism, 1 had immature uterus, 1 had testicular dysgenesis and 1 had normal testis. Three patients received rhGH treatment and 1 took gender assignment into account.</p><p><b>CONCLUSION</b>Patients with mosaic 45, X/46, XY karyotypes had a wide range of phenotypic manifestations, and disorders of sex development and short stature were the main clinical features. However, the disorders of sex development varied among these patients. And the management for them depends upon many factors and needs to be individualized based on the cooperation with different clinical departments.</p>

Karyotype analysis of qualified sperm donors on preliminary screening / 中华男科学杂志

<p><b>OBJECTIVE</b>To explore the significance of karyotype analysis in screening sperm donors.</p><p><b>METHODS</b>From January 1, 2004 to December 31, 2008, a total of 2537 potential sperm donors passed our preliminary screening, and all were routinely karyo-typed via peripheral blood. Follow-ups were conducted on the pregnancy outcome and congenital malformation after artificial insemination with the sperm from the qualified donors.</p><p><b>RESULTS</b>Among the 2537 qualified sperm donors, 2362 were of the normal karyotype 46, XY and 135 showed polymorphism. Abnormal karyotype was found in 6 cases, and controversial abnormal karyotype in 34.</p><p><b>CONCLUSION</b>Karyotype analysis can reduce the risk of chromosomal disease in neonates from artificial insemination, and genetic counseling for abnormal karyotype sperm donors may help them solve their future reproductive problems.</p>

Congenital pouch colon with unilateral renal agenesis and monarchism

Congenital pouch colon, also known as congenital short colonor "Pouch colon syndrome", is a rare condition that occurs in association with anorectal malformations; colon is either partially or completely replaced by pouch-like dilatation and communicates with the urogenital tract by means of a fistula. This anomaly is exclusively seen in Northern parts of India with only a few cases reported from elsewhere. A 1-day old neonate was presented with abdominal distension due to lack of passage of meconium. Clinical and radiological investigations revealed ano-rectal malformation. Incidental findings were left sided renal agenesis and right sided anorchia. Laparotomy revealed congenital pouch colon which was dealt accordingly. The baby is now healthy and awaiting further reconstructive surgery. Although urogenital anomalies are not uncommon with congenital pouch colon, the finding of renal agenesis with unilateral anorchia is quite rare