Jéssica Mallmann Erbes Schaefer Martins, Barbara Leitao Braga, Klevia Nunes Feitosa Sampaio, Tamires de Souza Garcia, Juliana Van de Sande Lee, Edson Cechinel, Genoir Simoni, Marilza Leal Nascimento, Paulo Cesar Alves da Silva, Maria C V Fragoso, Tania A A S Bachega, Mirian Y Nishi, Berenice B Mendonca
Beckwith-Wiedemann syndrome (BWS) is a common genetic congenital disease characterized by somatic overgrowth and its broad clinical spectrum includes pre- and post-natal macrosomia, macroglossia, visceromegaly, increased risk of neonatal hypoglycemia, and development of embryonic tumors. BWS occurs due to genetic/epigenetic changes involving growth-regulating genes, located on region 11p15, with an important genotype-phenotype correlation. Congenital adrenal hyperplasia (CAH) comprises a spectrum of autosomal recessive diseases presenting a variety of clinical manifestations due to a deficiency in one of the enzymes involved in cortisol secretion...
February 29, 2024: Archives of Endocrinology and Metabolism