We report here a rare case of bilateral pure gonadoblastoma which accounts for only 0.2% of all ovarian tumours seen at Universiti Kebangsaan Malaysia from 1980 to 1987. This tumour occurred in an 18 year old Chinese "female" who presented with primary amenorrhoea. Examination showed a phenotypic female with poorly developed external gentalia. Exploratory laparotomy revealed a hypoplastic uterus, rudimentary fallopian tubes and streak gonads. Histological examination of the gonads showed a mixed tumour comprising large germ cells and smaller sex cord derivatives arranged in characteristic nests or islands containing hyaline material.
Right and left ; Gonadoblastoma ; Gonads ; Female ; Case Report

45X/47XYY mosaicism is a very rare sex chromosomal disorder with limited clinical information. We experienced an unusual mosaic syndrome in a 16-year old woman with a phenotypic female, short stature, and immature secondary sexual characteristics. We performed both gonadectomy and found a gonadoblastoma in one gonad and dysgerminoma in another gonad.
Adolescent ; Chromosome Disorders ; Dysgerminoma* ; Female ; Gonadoblastoma* ; Gonads ; Humans ; Mosaicism

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

Gonadal tumors occur in a small percentage of patients who are diagnosed as having gonadal dysgenesis. Most of the tumors were gonadoblastomas and dysgerminomas. We present here with brief review of literature one case of mixed germ cell tumor of phenotycally typical female without sexual ambiguity who presented with primary amenorrhea, short stature and minimal abnormal somatic features, whose chromosome analysis showed 45,X/ 46,X, +mar karyotype.
Amenorrhea ; Dysgerminoma ; Female ; Germ Cells* ; Gonadal Dysgenesis ; Gonadoblastoma ; Gonads* ; Humans ; Karyotype ; Neoplasms, Germ Cell and Embryonal*

Ovarian tumors in patients with Turner's syndrome are extremely rare. Turner syndrome occurs in 1 of 4000 to 10,000 live births, giving an approximate incidence of 1 to 2,500 live female births. Approximately half of the patients with Turner syndrome have "pure" 45,X cells in peripheral blood lymphocytes. Thirty to forty percents of Turner syndrome patients present mosaicism: 10-15% of the total group are 45,X/46,XX and 2 to 5% are 45,X/46,XY. In 45,X/46,XY Turner syndrome, the risk of developing a tumor is as high as 15-25%, with the possible development of dysgerminoma or gonadoblastoma. Recently, we experienced a case of a very rare left ovarian mature cystic teratoma in a 45,X/46,XX Turner syndrome, so report with a brief review of literature.
Dysgerminoma ; Female ; Gonadoblastoma ; Humans ; Incidence ; Live Birth ; Lymphocytes ; Mosaicism ; Parturition ; Teratoma* ; Turner Syndrome*

45,X/47,XYY mosaicism is a rare sex chromosomal disorder with clinical information limited to 25 cases in the literature. We report an unusual mosaic Turner syndrome case in a 35-year old Korean woman with a phenotypic female, primary amenorrhea, short stature, immature secondary sexual characteristics. Cytogenetic analysis including G- and Q-banding revealed 45,X/47,XYY mosaicism, and SRY gene was demonstrated by polymerase chain reaction(PCR). Prophylactic bilateral gonadectomy was performed because the presence of Y-chromosomal sequences in Turner stigmata may predispose this patient to gonadoblastoma formation.
Adult ; Amenorrhea ; Christianity ; Chromosome Disorders ; Cytogenetic Analysis ; Female ; Genes, sry ; Gonadoblastoma ; Humans ; Mosaicism ; Turner Syndrome*

Existence of Y derived chromosome in Turner patients is significant due to the risk of gonadoblastoma development, but cytogenetic analysis may fail to detect low levels of Y chromosomal materials. Recent studies using PCR based methods showed higher sensitivity to detect Y-specific sequences, in patients who were Y chromosome-negative cytogenetically. In this study PCR was performed on 44 Turner patients with no Y chromosome by cytogenetic analysis to detect the SRY, AMELY, ZFY, and DYZ1 sequences. Of seven patients whose karyotypes were 45,X/46,X,+mar, three patients were positive for SRY, ZFY, and AMELY. DYZ1 sequences was negative in them. And any of SRY, ZFY, AMELY, and DYZ1 sequences was detected in the remaining 37 patients. This result shows that PCR analysis for Y-specific sequences in Turner patients, especially in patients who have marker chromosome is a significant effort.
Cytogenetic Analysis ; Genes, sry ; Gonadoblastoma ; Humans ; Karyotype ; Polymerase Chain Reaction ; Turner Syndrome* ; Y Chromosome

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

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