10 Výsledek
BACKGROUND
Gonadal dysgenesis (GD) is associated with increased risk of gonadal malignancy. Determining a patient's risk and appropriate timing of gonadectomy is challenging, but immunohistochemical markers (IHM) may help establish the diagnosis of malignant germ cell tumors (GCT). Our objective was
Context Most of the knowledge on the factors involved in human sexual development stems from studies of rare cases with disorders of sex development. Here, we have described a novel 46, XY complete gonadal dysgenesis syndrome caused by homozygous variants in PPP2R3C gene. This gene encodes B″gamma
Gonadoblastomas are rare mixed germ cell neoplasms, which are frequently diagnosed in testes excised for other reasons. In human patients these tumours are usually associated with undescended testes or dysgenetic gonads. This report describes a 10-year-old male dog with mixed gonadal dysgenesis
Gonadoblastoma is a rare ovarian neoplasm which belongs to "germ cell-sex cord-stromal tumor" category. This tumor is frequently associated with invasive germ cell malignancy. It commonly arises in dysgenetic gonads of young individuals who are phenotypically females but possess 46XY karyotype. It
In a review of 102 cases with various intersex states, the frequency of intratubular germ cell neoplasia (IGCN) unclassified in testes of children and adolescents was 6%. It was seen in 2 of 87 cases in the prepubertal age group and 4 of 23 cases in the pubertal age group. The frequency of IGCN was
Turner syndrome or the gonadal dysgenesis syndrome which is monosomic because of the lack of an X chromosome (45 X) is associated to a greater incidence of autoimmune, particularly thyroidal, disorders and inflammatory intestinal disease, but is rarely associated to hepatic disorders. A female
Turner syndrome is a condition caused by numeric and structural abnormalities of the X chromosome, and is characterized by a series of clinical features, the most common being short stature and gonadal dysgenesis. An increased frequency of autoimmune diseases as well as an elevated incidence of
Disorders of sexual development represent a pathologic and clinical challenge. Many different clinical syndromes exist, and several classifications have been proposed in relation to different risks for malignant degeneration. The morphology, cytogenetics, and immunophenotype of a monolateral
The study centered on a controversy about whether long-term estrogen replacement therapy may ameliorate the osteoporosis seen in patients with Turner's syndrome. This study comprised 26 adult patients with Turner's syndrome (9 treated and 17 untreated or insufficiently treated) and 12 adult women
OBJECTIVE
The purpose of the study was to define the histological origin of gonadoblastomas, allowing the identification of high-risk patients.
METHODS
Sixty paraffin-embedded gonadectomy or gonadal biopsy samples of 43 patients with gonadal dysgenesis were selected from our archives. We studied the