Objective: To evaluate the incidence, treatment, and survival outcomes of Swyer syndrome with gonadal non-dysgerminoma malignant germ cell tumor (MGCT-NDG). Methods: A retrospective study was performed on Swyer syndrome patients with MGCT-NDG between January 2011 and December 2022 in Peking Union Medical College Hospital to investigate their characteristics and outcomes. Results: A total of 15 patients (4.9%, 15/307) with Swyer syndrome were identified in 307 MGCT-NDG patients. The average age at diagnosis of MGCT-NDG and Swyer syndrome were (16.8±6.7) and (16.7±6.6) years, respectively. Six cases were preoperatively diagnosed as Swyer syndrome, of which 4 cases received bilateral gonadectomy with or without hysterectomy, while the other 2 cases underwent removal of gonadal tumor and unilateral gonadectomy with hysterectomy, respectively. Of the 9 patients postoperatively diagnosed as Swyer syndrome, unilateral gonadectomy, removal of gonadal tumor, and unilateral gonadectomy with hysterectomy were performed in 6 patients, 2 patients, and 1 patient, respectively. Mixed malignant germ cell tumor (MGCT;10 cases), yolk sac tumor (4 cases), and immature teratoma (1 case) were the pathological subtypes, in the descending order. There were International Federation of Gynecology and Obstetrics (FIGO) stage Ⅰ in 6 cases, stage Ⅱ in 3 cases, stage Ⅲ in 5 cases, and stage Ⅳ in 1 case, respectively. Eleven patients received reoperation for residual gonadectomy after a average delay of (7.9±6.2) months, including 8 MGCT-NDG patients and 1 gonadoblastoma patient, no tumor involved was seen in the remaining gonads in the other 2 cases. Ten patients experienced at least one recurrence, with a median event free survival of 9 months (5, 30 months), of which 2 patients received surgery only at the time of initial treatment. All patients with recurrence received surgery and combined with postoperative chemotherapy. After a median follow-up of 25 months (15, 42 months), 10 patients were disease-free, 3 patients died of the tumor, 1 died of side effects of leukemia chemotherapy, and 1 survived with disease. Conclusion: The incidence rate of Swyer syndrome in patients with MGCT-NDG is about 4.9%; timely diagnosis and bilateral gonadectomy should be emphasized to reduce the risk of reoperation and second carcinogenesis in this population.
Female ; Humans ; Retrospective Studies ; Gonadal Dysgenesis, 46,XY/surgery* ; Gonadoblastoma/surgery* ; Neoplasms, Germ Cell and Embryonal/surgery* ; Ovarian Neoplasms/pathology*

Objective: To summarize the experience in diagnosis and treatment of 45, X Turner syndrome (TS) with gonadal Y chromosome mosaicism and bilateral gonadoblastoma (Gb) secreting human chorionic gonadotrophin(HCG). Methods: A female patient aged 5 years and 3 months was admitted to the hospital with a complaint of "enlarged breasts for 27 months, and elevated blood β-HCG for 8 months". The clinical data were summarized, and related literature up to March 2022 with the key words"Turner syndrome" "Gonadoblastoma" "Y chromosome" "human chorionic gonadotropin" "precocious" in PubMed, CNKI and Wanfang databases were reviewed. Results: The girl went to the local hospital for 2-month breast development at age of 3 years, and was found with a heart murmur diagnosed with "pulmonary venous malformation and atrial septal defect (secondary foramen type)". Surgical correction was performed. She experienced the progressive breast development, rapid linear growth and markedly advanced skeletal age, which cannot be explained by partial activation in the hypothalamic-pituitary-gonadal axis determined at the age of 3 years and 7 months in local hospital. Then whole-exome sequencing revealed chromosome number abnormality 45, X, which was confirmed by Karyotyping. At the age of 4 years and 6 months, serum β-HCG was found to be elevated (24.9 U/L) with no lesion found at the local hospital. On physical examination, she was found with breast development, pubic hair development and clitoromegaly with elevated serum testosterone (1.96 μg/L) and β-HCG (32.3 U/L). Sex determining region Y(SRY) gene was negative in peripheral blood sample. Thoracic and abdominal CT, head and pelvic magnetic resonance imaging were normal. Exploratory laparotomy confirmed the presence of a left adnexal tumor and a right fibrous streak gonad. During surgery, simultaneous samples of bilateral gonadal and peripheral venous blood were obtained and serum β-HCG, estradiol and testosteron concentrations was higher to lower from left gonadal venous blood, right gonadal venous blood, to peripheral venous blood. Bilateral gonadectomy was performed. Histopathology revealed bilateral gonadoblastomas. SRY was positive in bilateral gonadal tissues. After surgery, serum E₂, testerone and β-HCG returned to normal. So far 4 cases of HCG-secreting gonadoblastoma had been reported worldwide. The phenotypes of the 4 cases were all female, with virilization or amenorrhea, and the preoperative peripheral blood β-HCG concentrations were 74.4, 5.0, 40 456.0, and 42.4 U/L, respectively. Conclusions: There is a high risk of Gb in TS with Y chromosome components. Gb is infrequently presented with breast development, and Gb associated with HCG secretion is rare. Karyotyping should be performed in a phenotypic female with masculinization, and virilization in TS indicates the presence of Y chromosome material with concurrent androgen secreting tumors.
Humans ; Female ; Child, Preschool ; Gonadoblastoma/surgery* ; Turner Syndrome/complications* ; Virilism ; Chorionic Gonadotropin ; Ovarian Neoplasms

Child ; Gonadoblastoma/surgery* ; Humans ; Male ; Ovarian Neoplasms/pathology* ; Testicular Neoplasms/pathology*

Adolescent ; Chemotherapy, Adjuvant ; Female ; Gonadal Dysgenesis, 46,XY ; diagnosis ; drug therapy ; metabolism ; Gonadoblastoma ; diagnosis ; drug therapy ; metabolism ; Humans ; Neoplasms, Germ Cell and Embryonal ; diagnosis ; drug therapy ; metabolism ; Ovarian Neoplasms ; diagnosis ; drug therapy ; metabolism

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.

Human ; Female ; Young Adult ; Gonadoblastoma ; Estradiol ; Menstruation ; Salpingectomy ; Amenorrhea ; Cervix Uteri ; Gene Deletion ; Gonadal Dysgenesis, 46,xy ; Gonads ; Turner Syndrome ; Puberty ; Oocytes ; Gonadotropins

Androgen insensitivity syndrome (AIS) is a disorder of sexual development characterized by a female phenotype with a 46 XY karyotype. Most patients present with primary amenorrhea; however,1.1% of patients present with an inguinal mass. Most commonly, seminoma arising from the gonads are found.                                                                                This report represents the case of a 15 year-old female looking adolescent who initially presented with an abdominopelvic mass. A diagnosis of AIS was made based on the physical examination findings, endocrine profiling, imaging studies and karyotyping. She underwent cytoscopy, exploratory laparotomy,adhesiolysis, tumor debulking, frozen section, bowel run, repair of serosal tear, Jackson-Pratt drain insertion, bilateral percutaneous nephrostomy under combined spinal and epidural anesthesia. Histopathologic examination of the excised mass revealed a mixed germ cell tumor. This paper will discuss the diagnostic approach as well as the management and prognosis of patients with AIS associated with mixed germ cell tumor.

Human ; Female ; Adolescent ; Androgen-insensitivity Syndrome ; Gonadoblastoma ; Feminization ; Germ Cells ; Feminization ; Adolescent ; Testosterone ; Genitalia ; Phenotype ; Karyotype

PURPOSE: Testicular microlithiasis (TM) is a relatively rare clinical entity of controversial significance characterized by the existence of hydroxyapatite microliths located in the seminiferous tubules. The aim of this study was to observe the natural course of changes in the calcific density of pediatric TM. MATERIALS AND METHODS: We included a total of 23 TM patients undergoing scrotal ultrasound (US) on at least two occasions from July 1997 to August 2014. We retrospectively analyzed the patient characteristics, clinical manifestations, specific pathological features, and clinical outcomes. We measured the calcified area and compared the calcific density between the initial and final USs. RESULTS: The mean age at diagnosis was 11.3+/-4.6 years, and the follow-up period was 79.1+/-38.8 months (range, 25.4-152.9 months). During the follow-up period, no patients developed testicular cancer. Calcific density on US was increased in the last versus the initial US, but not to a statistically significant degree (3.74%+/-6.0% vs. 3.06%+/-4.38%, respectively, p=0.147). When we defined groups with increased and decreased calcification, we found that diffuse TM was categorized into the increased group to a greater degree than focal TM (10/20 vs. 4/23, respectively, p=0.049). In addition, five of eight cases of cryptorchidism (including two cases of bilateral cryptorchidism) were categorized in the increased calcification group. CONCLUSIONS: Diffuse TM and cryptorchidism tend to increase calcific density. Close observation is therefore recommended for cases of TM combined with cryptorchidism and cases of diffuse TM.
Adolescent ; Calcification, Physiologic ; *Calculi/complications/epidemiology/pathology/physiopathology ; Child ; Cryptorchidism/diagnosis/etiology ; Densitometry/methods ; Follow-Up Studies ; Gonadoblastoma/diagnosis/etiology ; Humans ; Male ; Republic of Korea ; Scrotum/*ultrasonography ; Seminiferous Tubules/*pathology ; *Testicular Diseases/complications/epidemiology/pathology/physiopathology ; *Testicular Neoplasms/diagnosis/epidemiology/etiology

TSPY1 (testis-specific protein, Y-linked 1) gene family, located in male-specific region of Y-chromosome (MSY), has the maximum number of copies organized as a long tandem repeat array in protein-coding gene families of human genome. TSPY1 is identified to be the most important candidate gene for gonadoblastoma, and its coding protein can promote the proliferation and differentiation of tumor cells. Recently, TSPY1 gene family is also proposed to play an important role in spermatogenesis. In this review, the structure characteristics of the gene family were illustrated, and the functional studies of TSPY1 in the process of tumorigenesis and spermatogenesis were discussed.
Cell Cycle Proteins ; genetics ; Chromosomes, Human, Y ; genetics ; Gene Dosage ; Genetic Predisposition to Disease ; genetics ; Gonadoblastoma ; genetics ; Humans ; Male ; Spermatogenesis ; genetics ; Testicular Neoplasms ; genetics

OBJECTIVETo discuss the diagnosis and treatment of inflammatory myofibroblastic tumor (IMT) of the prostate.

METHODSWe retrospectively analyzed the clinical data of a case of IMT of the prostate and reviewed relevant literature. The patient was a 62-year-old man, who was twice referred to the local hospital for recurrence of dysuria. He was diagnosed as with benign prostatic hyperplasia (BPH) and twice underwent transurethral resection of the prostate (TURP). But frequent recurrence of dysuria followed postoperatively, for which he came to our hospital and received another TURP and transurethral resection of the bladder tumor (TURBT). Pathological findings showed chronic inflammation of the bladder, papillary hyperplasia with mild dysplasia in regional urothelial and IMT of the prostate. Six months later, the patient came again to our hospital for recurrence of dysuria. Computed tomography revealed a large mass in the bladder.

RESULTSThe patient underwent laparoscopic bladder radical resection and ileal conduit diversion, simultaneously with pelvic lymph node dissection. The pathological examination confirmed it to be an IMT of the prostate with the bladder but not regional lymph nodes involved. An 11-month follow-up showed neither local recurrence nor distant metastasis.

CONCLUSIONIMT of the prostate is a rare borderline lesion, whose diagnosis is very difficult and mainly depends on pathological findings. IMT of the prostate is liable to recur and even invade the bladder. Radical resection is recommended for patients with large and recurrent tumors, and close follow-up is strongly warranted.

Gonadoblastoma ; Humans ; Male ; Middle Aged ; Prostatic Neoplasms ; Retrospective Studies

Two types of gynecologic tumors are commonly described in the Turner syndrome, the first one is gonadoblastoma, which occurs in patients with Y chromosome abnormalities, and the second one is endometrial carcinoma which is mostly related with exogenous estrogen usage. Here, we describe an extremely rare case of squamous cell carcinoma of the vulva in a virgin woman with Turner syndrome. A 35-years old single, virgin woman referred to our Oncology Department with warty, necrotized, exophytic 6-7 cm vulvar mass. She had a history of primary amenorrhea and mosaic Turner syndrome was determined in her karyotype analysis. Biopsy specimen of the vulvar mass revealed squamous cell carcinoma of the vulva, and total vulvectomy with inguinal femoral lymphadenectomy was performed. The postoperative course was uneventful and there has been no recurrence of the disease up to date. Women with Turner syndrome have streak ovaries that produce very low estrogen and the squamous cell carcinoma of the vulva may have developed at an early age with Turner syndrome because of this low estrogen value similar to postmenopausal women. The current case is a special case due to its age of occurrence, virgin and Turner syndrome status.
Amenorrhea ; Biopsy ; Carcinoma, Squamous Cell ; Endometrial Neoplasms ; Estrogens ; Female ; Gonadoblastoma ; Humans ; Karyotype ; Lymph Node Excision ; Ovary ; Recurrence ; Turner Syndrome ; Vulva ; Y Chromosome