A Case of 45,X/46,XY Mosaicism Presenting as Swyer Syndrome

BackgroundSwyer syndrome is a difference of sex development that is typically associated with mutations in genes responsible for testicular development. It is speculated that some cases may result from cryptic 45,X/46,XY mosaicism leading to abnormal gonadal development. The presence or absence of a 45,X lineage is important for prognosis and management.CaseWe present a case of apparent Swyer syndrome associated with a 46,XY chromosomal complement in lymphocytes and 45,X/46,XY mosaicism on analysis of her noncancerous gonad. Gonadal histology was consistent with a 45,X phenotype.Summary and ConclusionThis case demonstrates the clinical variability in the presentation of 45,X/46,XY mosaicism and highlights the importance of thorough genetic testing that includes consideration of chromosomal mosaicism. We will discuss the implications of this diagnosis for management.     

Differentiating Swyer Syndrome and Complete Androgen Insensitivity Syndrome: A Diagnostic Dilemma

BackgroundSwyer syndrome and complete androgen insensitivity syndrome are disorders of sex development in which patients present a female phenotype and 46,XY karyotype.CaseThe authors present a case report of an 18-year-old patient with primary amenorrhea and delayed puberty. The karyotype was 46,XY. No mutations of sex-determining region Y gene and androgen receptor genes were identified, and imaging methods failed to show müllerian structures. A diagnosis of complete androgen insensitivity syndrome was presumed, but after hormonal replacement therapy was started a “hidden” uterus developed, leading to the definite diagnosis of Swyer syndrome.Summary and ConclusionThe diagnosis of Swyer syndrome can be challenging, because visualization of müllerian structures is sometimes difficult and analysis of genetic mutations is not helpful in the majority of cases.     

Swyer syndrome: presentation and outcomes

Objective  To establish the spectrum of presentation, natural history and gynaecological outcomes in women with Swyer syndrome.
Design  Retrospective notes review.
Setting  Tertiary referral centre for disorders of sex development.
Population  A total of 29 adult women with Swyer syndrome.
Methods  Information was collected on age at diagnosis, biometric characteristics, timing of gonadectomy, histology of gonad, bone mineral density, uterine size and fertility.
Main outcome measures  Age at diagnosis, risk of gonadal malignancy, bone mineral density, uterine size.
Results  With regard to presentation, 26/29 (90%) women in this series presented with delayed puberty, and the median age at diagnosis was 17.2 years (range 0–55 years). The median age at gonadectomy was 18 years (range 9–33 years). Histology of the gonad was available in 22 women and demonstrated streak gonads with no evidence of malignancy in 12, dysgerminoma in 7 and gonadoblastoma in 3. The youngest patient diagnosed with dysgerminoma was 10 years old. The median height of the women was 1.73 m (range 1.54–1.95 m). Twelve out of the 20 (60%) women had evidence of osteopenia on dual energy X-ray absorptiometry scan. The uterine size and shape was assessed in eight women after completion of induction of puberty, and the uterine cross-section was found to be significantly lower than that in normal controls. Fertility was achieved with ovum donation in three women, all of whom had live births and one subsequently had a second successful pregnancy.
Conclusion  Early diagnosis of Swyer syndrome is necessary in view of the risk of dysgerminoma that can develop at an early age. Adequate hormone replacement is required to maintain bone mineral density and may improve the uterine size and shape.     

Gonadoblastoma bilateral y disgerminoma asociados en un síndrome de Swyer

Swyer syndrome is a pure gonadal dysgenesis with female phenotype and 46 XY karyotype. Affected individuals have dysgenetic and non-functioning gonads. The risk of gonadal neoplasia is high at between 25% and 30%. The most frequently reported malignancies are gonadoblastoma and disgerminoma. We report a case of bilateral gonadoblastoma and dysgerminoma in a female patient with this syndrome.     

Familial Swyer syndrome: a rare genetic entity

Swyer syndrome is a pure gonadal dysgenesis associated with a 46 XY karyotype and primary amenorrhea in a phenotypic female. Individuals in this syndrome are at an increased risk for development of gonadal malignancies. Swyer syndrome (gonadal dysgenesis) running in families is rare event and few such scenarios were reported in the literature. Here we are presenting this rare entity involving three affected siblings born to a non-consanguineous couple. Index case - A 23-year-old female with primary amenorrhea is presented with a mass per abdomen. The clinical findings and laboratory investigations revealed hypergonadotropic hypogonadism picture and, imaging revealed a left ovarian tumor. Primary surgical debulking of ovarian cancer was done, histopathology of which revealed a dysgerminoma FIGO stage IIIC. The family history of the patient revealed a similar pattern as the elder sister had primary amenorrhea and had succumbed to ovarian cancer and the younger sister also has primary amenorrhea. Karyotype of all the three patients revealed a male genotype with a female phenotype. The early diagnosis of the patients with Swyer syndrome is very important because of the increased risk for the development of malignancy. This is a rare event to have two sisters with ovarian cancers in three siblings affected with familial gonadal dysgenesis syndrome each of them having a different genotype and first of its kind to ever be reported in literature.     

Disgerminoma y síndrome de Swyer

Swyer syndrome is a pure gonadal dysgenesis with a 46XY karyotype, normal female phenotype, and complete lack of functioning gonadal tissue, which is represented by bilateral, nonfunctioning, rudimentary streak gonads composed of fibrous tissue, with normal female internal genitalia. They present most often with primary amenorrhea. To date, 20% of these are explained by a mutation or a deletion in SRY. In 80%, SRY is apparently normal. The risk of gonadal neoplasia is high, dictating early prophylactic removal of these dysgenetic gonads. Laparoscopic surgery is recommended. Gonadoblastoma and dysgerminoma are the most frequently reported malignancies.     

Urinary Incontinence in Puberty: A Rare Clinical Presentation of the Herlyn-Werner-Wunderlich Syndrome

BackgroundWe report on an unusual presentation of Herlyn-Werner-Wunderlich syndrome in two 11-year-old girls within a year of menarche. The setting was a training and research hospital.CaseWe present two patients in the pubertal period with cyclic abdominal pain and urinary incontinence who received hysteroscopic septal resection. Menstrual flow was resumed and the complaints of incontinence were eliminated after the hysteroscopic resection of the vaginal septum.Summary and ConclusionOverflow incontinence was completely resolved after septum resection in two patients. The risk of stricture is high in Herlyn-Werner-Wunderlich syndrome if the septum is partially excised to open the obstruction, whereas the risk of stricture is low if a complete or wide excision is performed. In the presence of abdominal pain and urinary incontinence in puberty, Herlyn-Werner-Wunderlich syndrome must be considered in the differential diagnosis, and a detailed evaluation of the urinary system and pelvic anatomy must be performed.     

Unexpected diagnosis of stage IIA dysgerminoma in streak gonad in a patient with Swyer syndrome: a case report

Patients with Swyer syndrome, which is also known as 46,XY pure gonadal dysgenesis, are at an increased risk of gonadoblastoma and germ cell tumor. Prophylactic gonadectomy is recommended for these patients. We report a case of stage IIA dysgerminoma arising in a streak gonad in a patient with Swyer syndrome, which was not diagnosable preoperatively and intraoperatively. The patient was primarily amenorrheic and identified as female phenotypically. She underwent gonadectomy at 27 years of age. Preoperative image analysis showed a relatively small uterus without adnexal masses. Laparoscopic findings showed bilateral streak gonads. Postoperatively, histopathological examination revealed that the patient had dysgerminoma in her left streak gonad. Preoperative and intraoperative diagnosis of dysgerminoma in normal size ovaries is thought to be difficult. Although it is rare, considering the occurrence of dysgerminoma in streak gonad with extension to the mesosalpinx, prompt prophylactic gonadectomy is strongly recommended for these patients regardless of the size of the ovaries.     

Dysgerminoma in a Prepubertal Girl with Complete 46XY Gonadal Dysgenesis: Case Report and Review of the Literature

BackgroundComplete 46XY gonadal dysgenesis (Swyer syndrome) is a rare and challenging diagnosis among prepubertal girls, as estrogen insufficiency becomes evident only during adolescence, with nonspecific symptoms such as primary amenorrhea and/or delayed puberty. Unfortunately, girls with Swyer syndrome are at high risk for malignancies in the dysgenetic gonads, which can be prevented only by performing prophylactic bilateral gonadectomy.CaseWe present a 9-year-old patient with Swyer syndrome diagnosed with dysgerminoma in the right gonad and gonadoblastoma in the left gonad after prophylactic bilateral gonadectomy.Summary and ConclusionConcerning the high risk of early gonadoblastoma and its malignant transformation, we recommend performing prophylactic bilateral gonadectomy at the time of diagnosis, even if the patient is prepubertal.     

Dysgerminoma in a 10-Year Old with 45X/46XY Turner Syndrome Mosaicism

BackgroundTurner syndrome is a genetic disorder resulting from the absence of or structural abnormality of one X chromosome. The presence of Y chromosome material in girls with Turner syndrome confers an increased risk of benign and malignant germ cell tumor and prophylactic bilateral gonadectomy is recommended.CaseA 10-year-old Turner mosaic syndrome (45X/46XY) patient underwent prophylactic gonadectomy after unremarkable preoperative pelvic imaging. Histopathology showed a streak right gonad, and left gonad with gonadoblastoma with limited degree of infiltrating germinoma.Summaryand ConclusionGonadoblastoma and dysgerminoma have been reported in girls with Turner mosaic who carry Y chromosome material. Prophylactic gonadectomy should be considered in these girls without delay.     

Turner Syndrome with Y Chromosome: Spontaneous Thelarche,Menarche, and Risk of Malignancy

Study ObjectiveGirls with Turner syndrome with Y-chromosome material (TS + Y) are assumed to have nonfunctional gonads with increased tumor risk, therefore prophylactic gonadectomy is recommended at diagnosis. In this study we aimed to determine rates of spontaneous thelarche (ST) and spontaneous menarche (SM), and prevalence of gonadal tumor and malignancy in girls with TS + Y, to further inform discussions about gonadectomy.DesignRetrospective review of clinical and pathology data.SettingMulticenter study involving 4 United States children's hospitals.ParticipantsPatients included those with a genetically proven diagnosis of TS + Y and phenotypically female genitourinary exam.InterventionsDemographic characteristics, pubertal development, and gonadal pathology data were abstracted from clinical records. Data for ST were analyzed for patients aged 13 years and older and SM for patients older than 15 years.Main Outcome MeasuresST, SM, prevalence of gonadal tumor, and malignancy.ResultsForty-four patients met inclusion criteria. Nineteen patients were 13 years or older; 8/19 (42%) had ST and reached Tanner stages 2-4 and 2 (11%) had normal ovarian pathology. Nineteen patients were 15 years or older; 2/19 (11%) had SM. Thirty-seven patients underwent gonadectomy; 35 had available pathology results. Gonadoblastoma was identified in 35/7 patients (19%), 1 in situ germ cell neoplasia, and 1 dysgerminoma (3%). One patient with bilateral gonadoblastoma had ST and SM.ConclusionIn this multicenter cohort, 42% of girls with TS + Y entered puberty spontaneously and 11% had SM, supportive of gonadal function. Risk of tumor was similar to previous reports. To achieve informed decision-making, discussions about gonadectomy should incorporate potential for gonadal function and tumor risk.     

Swyer Syndrome: A Case of Dysgerminoma Solely within the Fallopian Tube

Background46XY pure gonadal dysgenesis (Swyer syndrome) is a rare disorder of sexual development. Patients have a 46XY karyotype, though phenotypically they appear female with normal external genitalia and vagina. Although patients exhibit normal Müllerian structures (uterus, fallopian tubes, and vagina), they possess a pair of bilateral undifferentiated gonad streaks. Delayed puberty and primary amenorrhea are the common presentations. There is an increased risk of developing tumors in the gonads and therefore a bilateral gonadectomy is recommended.CaseA 16-year-old girl who presented with primary amenorrhea was diagnosed with Swyer syndrome. She underwent prophylactic bilateral gonadectomy and salpingectomies. She was discovered to have no gonadal malignancy, conversely dysgerminoma solely within the fallopian tube.Summary and ConclusionBoth bilateral salpingectomies and bilateral gonadectomies should be recommended as the operation of choice in patients with Swyer Syndrome.     

Breast cancer,ovarian gonadoblastoma and cervical cancer in a patient with Peutz-Jeghers Syndrome

BACKGROUND: Peutz-Jeghers Syndrome (PJS) is a rare autosomal dominant disorder characterized by gastrointestinal hamartomatous polyps and mucocutaneous pigmentation. Patients with PJS have increased risk for gastrointestinal, breast, and female genital tract cancers. CASE: Multiple genital tract cancers in a 34-year-old woman with PJS are described. The patient, who was admitted to our department with severe vaginal bleeding, was performed right salpingo-oophorectomy because of pure gonadoblastoma in 1996. In 2003, concomitant to cervical carcinoma, breast cancer was diagnosed. Patient underwent left modified radical mastectomy due to the invasive papillary carcinoma. The patient received six cycles combination chemotherapy and radiation therapy because of stage IIIB cervical cancer. CONCLUSION(S): This is the first case report presenting PJS associated with multiple genital tract tumors including ovarian gonadoblastoma in literature. The clinical significance of these tumors in PJS patients has been reviewed.     

A Rare Presentation of the Syndrome of Inappropriate Antidiuretic Hormone in a 12-Year-Old Girl as the Initial Presentation of an Immature Ovarian Teratoma

Background

Immature ovarian teratoma is very rare in childhood. We report on a 12-year-old girl with immature ovarian teratoma who presented initially with syndrome of inappropriate antidiuretic hormone.