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.

Author: Guran JoJozahn
Country: Djibouti
Language: English (Spanish)
Genre: Literature
Published (Last): 12 April 2011
Pages: 348
PDF File Size: 7.71 Mb
ePub File Size: 12.15 Mb
ISBN: 697-2-26475-662-1
Downloads: 92915
Price: Free* [*Free Regsitration Required]
Uploader: Miran

Dysgenesis gonadal type XX. Dysgenesis gonadal type XY. Nat Genet ;4: Antenatal diagnosis Antenatal diagnosis is possible if a genital malformation is suspected with imaging. Disgenesias gonadais e tumores: With appropriate management, the risk of malignancy is low and the psychological and clinical outcome for patients is good.

XY gonadal dysgenesis

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. The latter group includes those with Turner syndrome i. The absence of a 45,X lineage is of importance for the management and prognosis.

Summary Epidemiology The prevalence is unknown.

Prog Med Genet ;9: Ovarian function in Turner syndrome: Other gonadal tumor, maligns or not, also occur in gonadal dysgenesis. Management and treatment Management should involve removal of streak gonadal tissue as there is a high risk for malignancy.


Diagnosis is made on the basis of the clinical findings together with cytogenetic analysis, endocrine investigations, molecular genetic studies, and sometimes surgical exploration with biopsy and removal of streak gonads. There are several forms of gonadal dysgenesis. In this case, as the child had normal LH, FSH and testosterone levels, a testis in the scrotal fold and good response to testosterone injections, he had a male sex assignment.

Only comments written in English can be processed. Associationd’un syndrome anatomo-pathologique de pseudohermaphroditisme masculin, d’une tumeur de Wilms, d’une nephropathie disgennesia et gonadak mosaicisme XX XY. We present a case of one of the least common of these disorders, 46XY partial gonadal dysgenesis. Only comments written in English can be processed. Other search option s Alphabetical list.

Barakat syndrome Tricho—rhino—phalangeal syndrome. Basic and clinical approach to Turner syndrome. The documents contained in this web site are presented for information purposes only.

Clinical description The clinical manifestations are highly dsgenesia, ranging from partial virilisation and ambiguous genitalia at birth to patients with a completely male or female phenotype. Detection of diisgenesia 45,X lineage changed both the diagnosis to MGD and also the prognosis.

Gonadal dysgenesis is a defective embryonic development of the gonads. Diagnosis is made on the basis of clinical findings with cytogenic analysis, endocrine investigations, molecular genetic studies, and sometimes surgical exploration with biopsy.


Disgenesia gonadal XY

Neurologic anomalies in Perrault syndrome. Clinical and pathologic spectrum of 46,XY gonadal dysgenesis: Consensus statement on management of intersex disorders. Also, the lack of testosterone means that no dihydrotestosterone is formed and consequently the external genitalia fail to virilizeresulting in normal female genitalia.

He was the first child of young unrelated parents; according to them, two maternal cousins had micropenis and gynecomastia. Without testosteronethe wolffian ducts fail to develop, so no internal male organs are formed.

CiteScore measures average gonsdal received per document published. Cancer Genet Cytogenet ; Vaginal septum Vaginal hypoplasia Imperforate hymen Vaginal adenosis Cloacal exstrophy Vaginal atresia. Exclusion of chromosome mosaicism: Health care resources for this disease Expert centres Diagnostic tests 66 Patient organisations 20 Orphan drug s 0.

Gonadal dysgenesis and tumors: genetic and clinical features

SJR uses a similar algorithm as the Google page rank; it provides a quantitative and qualitative measure of the journal’s impact. Environmental factors maternal progesterone intake during pregnancyand impaired prenatal growth have also been associated with 46,XY CGD.

Urol Clin North Am ;