Disease definition. 46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development. 46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the. Statistics. Original breve. Pubertad precoz periférica: disgenesia gonadal completa 46 XY. Peripheral precocious puberty: 46, XY complete gonadal dysgenesis.
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Gonadal dysgenesis and tumors: genetic and clinical features
Only comments seeking to improve the quality and accuracy of information on the Orphanet website are disgnesia. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. The degree of genital ambiguity varies along a spectrum, ranging from an almost female phenotype with clitoromegaly at one extreme to an almost male phenotype with isolated hypospadias at the other.
Many patients present ambiguous genitalia or severe micropenis associated with complete regression of testicular tissue in one or both sides. Depending on the mutation, patients can have adrenal insufficiency or renal involvement i. Wilms tumors or nephrotic syndrome.
Gonsdal SRY mutations are de novo mutations, however some cases of X-linked inheritance have been observed. SF-1 is a nuclear receptor and regulator of multiple genes involved in adrenal and gonadal development, steroidogenesis, and the reproductive axis. Therefore, affected patients may also have adrenal insufficiency. Syndromic forms of 46,XY PGD have been associated with WT-1 mutations, which lead to variable testicular dysgenesis and an increased risk of renal abnormalities, namely Wilms tumors or nephrotic syndrome.
Diagnosis is made on the basis of clinical findings with cytogenic analysis, endocrine investigations, molecular genetic studies, and sometimes surgical exploration with biopsy.
XY gonadal dysgenesis
The absence of a 45,X lineage is of importance for the management and prognosis. Antenatal diagnosis is possible if a genital malformation is suspected with imaging and if a familial background exists. Management of patients requires a multi-disciplinary disgenesiw.
Psychological evaluation and counseling of parents is necessary. The determination of social sex should consider etiological diagnosis, penis size, ethnic traditions, sexual identity and the acceptance of assigned social sex by the parents. Hormone therapy in patients with female social sex is based on estrogen and progesterone for those patients where uterus is present in order to induce menses and estrogen alone in patients without a uterus.
Androgen replacement, including testosterone injections, is given to patients with male social sex.
Surgery is required to allow development of adequate external genitalia and removal of internal structures inappropriate for social sex, and should be carried out before 2 years of age.
Bilateral gonadectomy should be performed before puberty to avoid degeneration of dysgenetic tissue in patients reared as females due to the relatively high risk of gonadal malignancy.
With early diagnosis, surgery and hormone treatment can result in good outcome, both cosmetically and functionally. Infertility is almost always present. Other search option s Alphabetical list. Summary and related texts. Check this box if you wish to receive a copy of your message.
Disease definition 46,XY partial gonadal dysgenesis 46,XY PGD is a disorder of sex development DSD associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype. InfancyNeonatal ICD Summary Epidemiology The prevalence is unknown.
Etiology 46,XY PGD is a heterogeneous disorder associated with partial abnormality of both Leydig cell and Sertoli cell function that may result from deletions or point mutations in the SRY gene or dose sensitive sex NR0B1 locus duplication on the X chromosome. Diagnostic methods Diagnosis is made on the basis of clinical findings with cytogenic analysis, endocrine investigations, molecular genetic studies, and sometimes surgical exploration with biopsy.
Antenatal diagnosis Antenatal diagnosis is possible if a genital malformation is suspected with imaging and if a familial background exists.
Genetic counseling Genetic counseling is mandatory. Management and treatment Management of patients requires a multi-disciplinary team. Prognosis With early diagnosis, surgery and hormone treatment can result in good outcome, both cosmetically and functionally.
Additional information Further information on this disease Classification s 6 Gene s 11 Disability Clinical signs and symptoms Other website s 2. Gobadal care resources for this disease Expert centres Diagnostic tests 66 Patient organisations 20 Orphan drug s 0.
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