gonadal dysgenesis


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Related to gonadal dysgenesis: gonadal agenesis, Swyer syndrome, XY gonadal dysgenesis

dysgenesis

 [dis-jen´ĕ-sis]
defective development; see also dysplasia and malformation.
gonadal dysgenesis
1. defective development of the gonads.
2. turner's syndrome and its variants.

go·nad·al dys·gen·e·sis

defective gonadal development, varying types and degrees of which have been identified, including gonadal aplasia or agenesis, rudimentary gonads, congenitally defective gonads, and true hermaphroditism; the character of the external genitalia, genital ducts, and secondary sexual development are only sometimes uniquely related to a given type of gonadal dysgenesis XO GONADAL DYSGENESIS51 consists of monosomy X with a gonadal streak rather than a true ovary, notably seen in Turner syndrome; XX GONADAL DYSGENESIS51 is an autosomal recessive disorder with a female karyotype, streak gonads, and primary amenorrhea, but with no body features of Turner syndrome; XY GONADAL DYSGENESIS51 is an X-linked disorder associated with a male karyotype and a female habitus, streaked gonads, and absence of secondary sexual characteristics.
Synonym(s): ovarian dysgenesis

gonadal dysgenesis

a general designation for a variety of conditions involving anomalies in the development of the gonads, such as Turner's syndrome, hermaphroditism, and gonadal aplasia.

gonadal dysgenesis

A condition characterized by underdeveloped or imperfectly formed gonads; the prototypic GD is Turner syndrome–45, X0, which occurs in 1:2-7000 ♀ births Clinical Short stature, webbed neck, cubitus valgus, micrognathia with high arched palate, epicanthal folds, lymphedema of hands and feet, aortic coarctation, renal malformation, osteoporosis, DM, widely spaced nipples, sexual infantilism. See Intersex syndromes.

go·nad·al dys·gen·e·sis

(gō-nad'ăl dis-jen'ĕ-sis)
Defective gonadal development; types include gonadal aplasia or agenesis, rudimentary gonads, congenitally defective gonads, and true hermaphroditism.
References in periodicals archive ?
Although ambiguous genetalia was the commonest presentation but CAIS mainly presented with inguinal hernia or primary amenorrhea and partial gonadal dysgenesis presented with delayed puberty and micropenis or hypospadias.
Translocations involving autosomes and the X chromosome with gonadal dysgenesis have been described by a few studies.
In patients with genital ambiguity due to mixed gonadal dysgenesis or ovotesticular DSD, sex definition is a challenge involving prognosis about adult gender identity, anticipated quality of sexual function, surgical options and risks, fertility potential, evidence of fetal CNS exposure to androgens, gonadal malignancy risk, and psychosocial factors (familial, social, and cultural) [1, 2].
Most of the secondary sexual characteristics do not develop, and menses are absent in the majority of phenotypically female patients with pure gonadal dysgenesis.
About 30 percent of patients with pure gonadal dysgenesis, and 15 percent with mixed gonadal dysgenesis go on to develop gonadal tumors.
Hypergonadotropic hypogonadism (Primary ovarian failure) due to unilateral or bilateral gonadal dysgenesis or agenesis had been also described in a few case reports in association with MRKHS.
Results: Of the 61 patients, 23 were undervirilized male (UVM), 29 had congenital adrenal hyperplasia (CAH), 4 had clitoromegaly, four gonadal dysgenesis and one aphalia.
Differential diagnosis must be conducted with other reasons of amenorrhea primaria (6) that deal with sexual secondary normal characters; the most frequent being: gonadal dysgenesis, androgen insensibility, agenesis of vagina and uterus, vaginal transverse septum, and imperforated hymen.
This review focuses on 3 selected topics of gynecologic pathology with implications for the practicing surgical pathologist: evaluation of hereditary breast-ovarian cancer syndrome (BRCA1 /BRCA2) mutation-carrier specimens; assessment of microsatellite instability and hereditary nonpolyposis colorectal carcinoma (HNPCC)/Lynch syndrome in endometrial carcinomas; and prophylactic surgery for gonadal dysgenesis.
Beyond 90 days, evaluate for PCOS, eating disorders, thyroid disease, hyperprolactinemia, gonadal dysgenesis, or premature ovarian failure.
These types of disorders include gonadal dysgenesis (incomplete development of the gonads) and hermaphroditism, presence of gonads that contain both ovarian and testicular tissues.
In mixed gonadal dysgenesis, some cells in the body have only a single X chromosome (female) and other cells have XY chromosomes (male).