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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Nat Genet ;1: Management and treatment Management should involve removal of streak gonadal tissue as there is a high risk for malignancy.

Dysgenesis gonadal type XY.

Gonadal tumors in disorders of sexual differentiation. Views Read Edit View history. They appear to be normal girls and are generally considered so. All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License. Although Y-specific sequences are seldom cytogenetically evident, dysgenetic gonads are potentially prone to developing tumors.

Segundo Lippe e cols. Depending on further evaluations, particularly hormone measurements, surgical exploration and gonadal biopsy may be necessary to reach a specific diagnosis 1,2. When first examined by us, weight was 2. Diagnostic methods 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. The finding of bilateral streak gonads in phenotypic females with a 46,XX or 46,XY karyotype characterizes pure gonadal dysgenesis.

The documents contained in this web site are presented for information purposes only. Epidemiological, endocrine and metabolic features in Turner syndrome.

Urol Clin North Am ; D ICD – 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. With early diagnosis, surgery and hormone treatment can result in good outcome, both cosmetically and functionally.


Although disgeneia cases of 46,XY CGD occur sporadically, genetic counseling may be offered to affected families and should be adapted depending on the mode of inheritance associated with the genetic anomaly identified. Barakat syndrome Tricho—rhino—phalangeal syndrome. Patients present during adolescence or early adulthood with normal female external genitalia but lack pubertal development although adrenarche is normal.


Obst Gynecol Surv ; Psychomotor development is normal. Ainda emSalo e cols.

Management of patients requires a multi-disciplinary team. Management and treatment Multidisciplinary management in a centre for DSDs should be favoured in cases of obvious ambiguous genitalia, allowing informed decisions for sex assignment and planning of procedures.

EmAlvarez-Nava e cols. The person is externally female with streak gonadsand if left untreated, will not experience puberty. Antenatal diagnosis Antenatal diagnosis is possible if a genital malformation is suspected with imaging and if a familial background exists.

Limitations of G-banding karyotype analysis with peripheral lymphocytes in diagnosing mixed gonadal dysgenesis. Infertility is an important management issue; however, pregnancy may be feasible through zygote egg donation.

Heredity and cancer in man. Semin Perinatol ; Although the etiology is not completely understood, 46,XY CGD results from failure of testicular development due to disruption of the underlying genetic pathways and several genes have been implicated: Our patient, a day-old infant, was referred to us before gender assignment dishenesia to sex ambiguity.

Disgenesia gonadal parcial XY. Diagnóstico en edad adulta | Progresos de Obstetricia y Ginecología

Swyer syndromeor XY gonadal dysgenesisis a type of hypogonadism in a person whose karyotype is 46,XY. Syndrome of the month: Arch Pathol Lab Med ; Advances in pathology of intersex conditions.

This page was last edited on 7 Octoberat The distribution of chromosomal genotypes associated with Turner syndrome: In addition, karyotype analysis of both lymphocytes and gonadal fibroblasts has revealed different levels of mosaicism, and the phenotype of gonads and external genitalia is more consistent with the chromosome constitution of gonads than that of lymphocytes Environmental factors maternal progesterone intake during pregnancyand impaired prenatal growth have also been associated with 46,XY CGD.

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CiteScore measures average citations received per document published. All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License. Early manifestations of testicular dysgenesis in children: Subscribe to our Newsletter. Turner Syndrome Study Group. Diagnostic methods Diagnosis is made by cytogenetic analysis of chromosome status. Chinese Journal of Cancer Research.

We present a case of one of the least common of these disorders, 46XY partial gonadal dysgenesis. In some patients, the possibility of growth hormone treatment needs to be discussed if short stature is found.

XY gonadal dysgenesis

This finding changed the diagnosis from 46,XY DSD, partial gonadal dysgenesis, to sex chromosome DSD, mixed gonadal dysgenesisthe prognosis short stature, risk of cardiovascular, renal and urinary anomalies, autoimmune thyroid disease, among others and the follow-up of the child which must be similar to those of Turner syndrome patients 8and also brought the possibility of hGH treatment to improve final height 9.

Swyer syndrome represents one phenotypic result of a failure of the gonads to develop properly, and hence is part of a class of conditions termed gonadal dysgenesis. Summary Epidemiology The prevalence disgeensia unknown. At this point it is usually possible for a physician to make a diagnosis of Swyer syndrome.