Banca de QUALIFICAÇÃO: REINALDO LUNA DE OMENA FILHO

Uma banca de QUALIFICAÇÃO de MESTRADO foi cadastrada pelo programa.
STUDENT : REINALDO LUNA DE OMENA FILHO
DATE: 09/07/2021
TIME: 14:00
LOCAL: Instituto de Ciências Biológicas e da Saúide
TITLE:

Genital ambiguity in a series of cases from the disorders/differences of sex development ambulatory of the Prof. Alberto Antunes University Hospital of UFAL - 2008 – 2018.

KEY WORDS:

Disorders of sex development; genital ambiguity; androgen synthesis or action disorders; congenital adrenal hyperplasia; disorders of gonadal differentiation.

PAGES: 119
BIG AREA: Ciências Biológicas
AREA: Genética
SUBÁREA: Genética Humana e Médica
SUMMARY:

Genital ambiguity (GA) is a phenotype in which the anatomic sex attribution is not clear and belongs to the big group of the disorders/differences of sex development (DSD). The prevalence is of 1:4,500 live births and its aetiology is predominantly genetic. The GA occurs either in individuals with XX, XY normal sexual chromosomes, among those with numerical or structural sexual chromosomes abnormalities. In 2008, at the, The DSD ambulatory of the University Hospital of the Federal University of Alagoas was initiated. Nowadays this is a regular service delivered by a multidisciplinary team. The aim of this study was to describe the epidemiological, genetic, and clinical profile of 73 individuals with GA assisted from 2008 to 2018. Data was gathered using a unique protocol and database. The karyotype was a universal test. The AR, SRD5A2, HSD17B3, NR5A1 and CYP21A2 genes analyses were performed according to clinical indication. Individuals The age over 90 days of life at first assessment was defined as inadequate. This age range was predominant as well as the moderate to severe degree of GA. Androgen synthesis or action disorders (DSD XY) were the largest group, followed by androgen excess (all represented by congenital adrenal hyperplasia) and disorders of gonadal differentiation (DGD). New variants in HSD17B3, NR5A1 and CYP21A2 genes were identified. Among DGD, two rare cases of Klinefelter Syndrome plus ovotesticular DSD, and gonadal mixed dysgenesis plus Down Syndrome were identified. This is the first description of the epidemiological, genetic, and clinical profile of GA in Alagoas. Overall data corroborate the literature. The study has also identified rare and new aetiologies which may contribute to better understand the DSD. This knowledge may inform health policies definitions for patients with DSD and education of health professionals.  Throughout 10 years, the DSD ambulatory achieved a multidisciplinary model of care, with individualized assessment. The dialogue between health managers multidisciplinary team is needed to exchange experiences aiming to improve the health care based on the study results.

BANKING MEMBERS:
Presidente - 3221982 - ISABELLA LOPES MONLLEO
Interno - 1544773 - TIAGO GOMES DE ANDRADE
Externo à Instituição - SAMIR BUAINAIN KASSAR - Tiradentes