The peculiarities of osteal system maturation in patients w ith primary estrogenic deficit

In patients with congenital ovarian insufficiency, particularly with gonadal dysgenesis, the retarded bone remodelingprevents the bone tissue from achieving its final, peak density and leads to the lagging of skeletal system maturation. This may result in high risk of limb and backbone fractures.The article analyzes the results of the examination of 142 patients with different forms of gonadal dysgenesis. The treatment included the preparations containing estrogens, which were identical with natural ones (Divina, Divitren, Divigel). The data received substantiate the necessity of eliminating the estrogenic deficit in patients with gonadal dysgenesis earlier than it is usually done.

Cranial bones mark hormonal disturbances in patients with gonadal dysgenesis

The data on roentgenologic peculiarities o f cranial bones including sella turcica in patients with gonadal dysgenesis are drawn in the paper. Besides that, the authors analyze the changes in size and configuration o f sella turcica under hormonal replacement therapy.

45,X/46,XY Mosaicism with Male Phenotype: Case Report

Mixed gonadal dysgenesis is the most common chromosomal abnormality with ambiguous genitalia, defined as a 45,X/46,XY mosaicism. It can present with a normal male phenotype, ambiguous genitalia, or features of Turner syndrome. A 14-year-old patient was referred to the genetics clinic due to hypospadia, cryptorchidism, and aortic coarctation. During the physical examination, short stature, webbed neck, and Blashko lines on his back were noted. He had a previous karyotype reported as normal. However, due to an inadequate evolution and a low resolution on the previous test, a higher resolution karyotype was performed, identifying a mosaicism 45,X/46,XY. A multidisciplinary board examined the case, and follow-up with tumor markers was carried out to evaluate the presence of gonadoblastoma, one of the main complications in these patients. Treatment should be transdisciplinary and focused on the particular characteristics of each case. Other treatment alternatives include corrective surgery and hormonal therapy.

AS PECULIARIDADES DA DISGENESIA GONADAL MISTA (46, XY/45,X): UMA REVISÃO DA LITERATURA

Disgenesia Gonadal Mista é um distúrbio do desenvolvimento sexual do cromossomo sexual, comumente está relacionada ao mosaicismo cromossômico dos cariótipos 45,X/46,XY, além de apresentar gônadas digenéticas e uma anatomia reprodutiva tanto interna quanto externa mutáveis. Este trabalho tem por objetivo revisar a literatura sobre pacientes masculinos pediátricos portadores de Disgenesia Gonadal Mista. Revisão de literatura realizada por buscas em artigos relevantes ao tema nas plataformas digitais PubMed e Scielo, com o uso da palavra-chave: “mixed gonadal dysgenesis”.