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. El estudio genético reveló cariotipo 46 XY con mutación cG> T (30Ile) en el exón 1 del gen SRY, confirmando el diagnóstico de disgenesia gonadal.

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Orphanet: Disgenesia gonadal parcial 46 XY

Only comments seeking to improve the quality and accuracy of information gonaval the Orphanet website are accepted. The next steps of the evaluation usually include checking a karyotype and imaging of the pelvis. Disgenesias gonadais e tumores: Alternative pathway for DHT synthesis in fetal testis; XY individuals may appear phenotypically female or have ambiguous genitalia.

Disease definition 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 presence of female external and internal genitalia despite the 46,XY karyotype. Surgical intervention in minors with DSD is controversial, particularly in those being reared female.

All cases are sporadic. Gross examination of surgical specimens. Clear Turn Off Turn On.

XY gonadal dysgenesis

Although an XY karyotype can also indicate a person with complete androgen insensitivity syndromethe absence of breasts, and the presence of a uterus and pubic hair exclude the possibility. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted.

More detailed information for clinicians ordering genomic testing can be found here. Precocious puberty in children: Complete gonadal dysgenesis in clinical practice: Dysgenetic testis decreased size and number of seminiferous tubules, reduced number or absence of germ cells, peritubular fibrosis, and hyperplasia of Leydig cells.


Evaluation Strategy The initial evaluation of an individual suspected of having a nonsyndromic disorder of sex development is to determine the chromosome complement. Psychological support should also be offered to patients and their families. Barbaro et al []Barbaro et al []Ledig et al []White et al []Barbaro et al [].

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. Genetic counseling is the process of providing individuals and families with information on the nature, inheritance, and implications of genetic disorders to help them make informed medical and personal decisions.

Clinical description Patients present during adolescence or early adulthood with normal female external genitalia but lack pubertal development although adrenarche is normal. SRY gene deletion of or loss-of-function mutations; Yp Steroidogenic factor-1 and human disease.

Sex-limited autosomal recessive inheritance: The same occurred with incomplete or gnadal gonadal dysgenesis PGDwhich designated the existence of bilateral dysgenetic testes 4,5. Annals of Pediatrics is the Body of Scientific Expression of the Association and is the vehicle through which members communicate. For synonyms and outdated names see Nomenclature. In patients with male sex assignment, orchidopexy is required for fixation of the testes in the scrotum and biopsy may be recommended at the time of puberty.

InfancyNeonatal ICD To improve our services and products, we use “cookies” own or third parties authorized to show advertising related to client preferences through the analyses of navigation customer behavior.

For an introduction to multigene panels click here. Care of girls and women with Turner syndrome: Clinical Guidelines and Handbook for Parents. Nat Immun Cell Growth Regul ; The genes included in the panel and diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. Urol Clin North Am ; Deletions of 9p24 vary in size, including large, cytogenetically visible deletions or smaller deletions.


The child was delivered by cesarean section after an uneventful week pregnancy. Only comments written in English can be processed. Swyer syndromeor XY gonadal dysgenesisis a 466 of hypogonadism in a person whose karyotype is 46,XY.

J Mol Med Berl80pp.


Nat Genet ; Molecular mapping of the putative gonadoblastoma locus on the Y chromosome. You can change the settings or obtain more information by clicking here. Int J Pediatr Endocrinol.

Infants with female sex assignment present with varying degrees of virilization and may show manifestations of other clinical features of Turner syndrome see this term.

Pediatr Adolesc Endocrinol ;8: Ostrer []Baxter et al []. J Clin Endocrinol Metab ; Infants with male sex assignment may present with cryptorchidism, partial testicular dysgenesis, and hypospadias.

Management should involve removal of streak gonadal tissue as there is a high risk for malignancy. For questions regarding permissions or whether a specified use is allowed, contact: When male sex of rearing is chosen, surgical options may include hypospadias repair, orchiopexy, scrotoplasty, and phalloplasty.

A wide use of the classification proposed by the Chicago Consensus is necessary to avoid misunderstanding both in research and clinical practice. Segundo Gonacal e cols.

Individuals with sex-limited autosomal recessive 46,XY nonsyndromic disorder of testicular development are frequently unable to reproduce. Precocious puberty PP is defined as the development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys.