Publications by authors named "Rafaela Vieira Correa"
Background: Paracentesis is a routine medical procedure quite relevant in clinical practice. There are risks of complications related to paracentesis, so it is essential a proper trainee for the younger practicer.
Objective: The article describes the construction and the application of a low cost paracentesis simulator for undergraduate medical students and it also describes the perception of students about the simulator as well.
Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.
Birth Defects Res C Embryo Today
December 2016
Article Synopsis
- Steroidogenic factor 1 (NR5A1) is crucial for the development and function of the adrenal glands and gonads, with mutations leading to various disorders in sexual development and fertility in both 46,XY and 46,XX individuals.
- In 46,XY individuals, mutations can result in atypical female genitalia and other sex development disorders, while in 46,XX individuals, they may lead to primary ovarian insufficiency and related symptoms.
- The wide range of phenotypes associated with NR5A1 mutations indicates that other genetic factors may influence the outcomes, emphasizing the importance of recognizing these mutations in cases of gonadal dysfunction.
Tall stature and poor breast development after estrogen replacement in a hypergonadotrophic hypogonadic patient with a 45,X/46,X,der(X) karyotype with SHOX gene overdosage.
Arq Bras Endocrinol Metabol
November 2008
SHOX is exclusively expressed in the developing distal limb bones of human embryos and in the first and second pharyngeal arches. It works as a promoter for linear growth and as a repressor of growth plate fusion. It was reported, recently, that SHOX overdosage and gonadal estrogen deficiency have led to tall stature due to continued growth.
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