gonadal dysgenesis/phosphatase

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Association of immunohistochemical markers with premalignancy in Gonadal Dysgenesis.

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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

PPP2R3C gene variants cause syndromic 46,XY gonadal dysgenesis and impaired spermatogenesis in humans.

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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

Bilateral gonadoblastomas in a dog with mixed gonadal dysgenesis.

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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

Bilateral Gonadoblastoma With Dysgerminoma in a Phenotypically Normal Female With 46XX Karyotype: Report of a Rare Case and Literature Review

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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

Testicular intratubular germ cell neoplasia in children and adolescents with intersex.

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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

[Chronic asymptomatic intrahepatic cholestasis associated with Turner's syndrome].

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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

Multiorgan autoimmunity in a Turner syndrome patient with partial monosomy 2q and trisomy 10p.

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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

Morphology and immunophenotyping of a monolateral ovotestis in a 46,XderY/45,X mosaic individual with ambiguous genitalia.

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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

Bone demineralization, biochemical indices of bone remodeling, and estrogen replacement therapy in adults with Turner's syndrome.

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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

Gonadoblastoma arising in undifferentiated gonadal tissue within dysgenetic gonads.

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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

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