Gonadal dysgenesis is classified as any congenital developmental disorder of the reproductive system in the male or female. It is the defective development of. English Spanish online dictionary Term Bank, translate words and terms with different pronunciation options. El síndrome de Swyer-James es un desorden de los cromosomas sexuales y la diferenciación sexual caracterizado por una disgenesia gonadal pura 46 XY en.
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Patients are born as females without ambiguity. However, affected individuals present during adolescence or young adulthood with either delayed or absent puberty resulting in primary or sometimes secondary amenorrhea.
The internal and external genitalia are normally developed. Associated findings occur infrequently: Ovarian dysgenesis results from genetic defects of ovarian development.
Although the underlying etiology remains unknown in most cases, several genes have been implicated including homozygous or compound heterozygous inactivating mutations of the follicle-stimulating hormone receptor gene FSHR ; 2pp16mutations in the BMP15 gene Xp Inactivating FSHR mutations are inherited in an autosomal recessive manner, BMP15 mutations are inherited in an X-linked manner and NR5A1 mutations are autosomal dominant in the great majority of cases.
Diagnosis requires an evaluation of hormonal status gonadal and adrenallaboratory investigations to screen for infectious or autoimmune disorders, karyotype analysis, molecular studies and sometimes laparoscopy with biopsy of ovarian tissue. The differential diagnosis should include other causes of POF, as well as 46,XY complete gonadal dysgenesis see these terms.
Management should include hormone replacement therapy. Calcium and vitamin D supplements may glnadal be proposed. Psychological support should also be offered to patients and their families.
Orphanet: Disgenesia gonadal pura 46 XX
Infertility is an important management issue; however, pregnancy may be feasible through zygote egg donation. Other search option s Alphabetical list.
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Check this box if you wish to receive a copy of your message. Disease definition 46,XX gonadal dysgenesis 46,XX GD is a primary ovarian defect leading to premature ovarian failure POF; see this term in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation. AdolescentAdult ICD Clinical description Xisgenesia are born as females without ambiguity.
Etiology Ovarian dysgenesis disgenessia from genetic defects of ovarian development. Diagnostic methods Diagnosis requires an evaluation of hormonal status gonadal and adrenallaboratory investigations to screen for infectious or autoimmune disorders, karyotype analysis, molecular studies and sometimes laparoscopy with biopsy of ovarian tissue.
Differential diagnosis Gonadzl differential diagnosis should include other causes of POF, as well as 46,XY complete gonadal dysgenesis see these terms. Antenatal diagnosis Prenatal molecular diagnosis is feasible in cases where a mutation has been identified. Genetic counseling Genetic counseling may be offered.
disgenesia gonadal pura
Management and treatment Management should include hormone replacement therapy. Prognosis With appropriate management, the physiological and clinical outcome for patients is good. Health care resources for this disease Expert centres Diagnostic tests 39 Patient organisations 25 Orphan drug s 0. Specialised Social Services Eurordis directory. The documents contained in this web site are presented for information purposes only.
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.